Incidental Mutation 'R4993:Rims2'
| ID |
385050 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rims2
|
| Ensembl Gene |
ENSMUSG00000037386 |
| Gene Name |
regulating synaptic membrane exocytosis 2 |
| Synonyms |
RIM2, 2810036I15Rik, Syt3-rs |
| MMRRC Submission |
042587-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.661)
|
| Stock # |
R4993 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
39061681-39547768 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39317841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 640
(V640A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154153
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042917]
[ENSMUST00000082054]
[ENSMUST00000227243]
[ENSMUST00000228839]
|
| AlphaFold |
Q9EQZ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042917
AA Change: V640A
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000048719
Gene: ENSMUSG00000037386
AA Change: V640A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Pfam:FYVE_2
|
30 |
154 |
9.5e-18 |
PFAM |
|
low complexity region
|
315 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
521 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
540 |
N/A |
INTRINSIC |
|
PDZ
|
646 |
725 |
8.27e-16 |
SMART |
|
low complexity region
|
740 |
748 |
N/A |
INTRINSIC |
|
C2
|
790 |
897 |
4.08e-21 |
SMART |
|
low complexity region
|
905 |
919 |
N/A |
INTRINSIC |
|
low complexity region
|
1085 |
1101 |
N/A |
INTRINSIC |
|
low complexity region
|
1116 |
1130 |
N/A |
INTRINSIC |
|
low complexity region
|
1208 |
1238 |
N/A |
INTRINSIC |
|
C2
|
1432 |
1535 |
3.78e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082054
AA Change: V680A
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000080711
Gene: ENSMUSG00000037386
AA Change: V680A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
24 |
N/A |
INTRINSIC |
|
Pfam:FYVE_2
|
76 |
194 |
2.2e-11 |
PFAM |
|
low complexity region
|
355 |
375 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
551 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
580 |
N/A |
INTRINSIC |
|
PDZ
|
686 |
765 |
8.27e-16 |
SMART |
|
low complexity region
|
780 |
788 |
N/A |
INTRINSIC |
|
C2
|
830 |
937 |
4.08e-21 |
SMART |
|
low complexity region
|
945 |
959 |
N/A |
INTRINSIC |
|
low complexity region
|
1075 |
1086 |
N/A |
INTRINSIC |
|
low complexity region
|
1166 |
1196 |
N/A |
INTRINSIC |
|
C2
|
1390 |
1493 |
3.78e-16 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227243
AA Change: V640A
PolyPhen 2
Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000227381
AA Change: V360A
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228867
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele show reduced body size, aberrant insulin granule exocytosis, and impaired secretion of hormones associated with glucose homeostasis. Mice homozygous for another knock-out allele show a slightly reduced body size, abnormal maternal behavior and premature death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| 9130008F23Rik |
G |
T |
17: 41,191,052 (GRCm39) |
Q126K |
probably benign |
Het |
| Abca15 |
C |
A |
7: 120,000,941 (GRCm39) |
N1492K |
probably damaging |
Het |
| Afap1l2 |
C |
T |
19: 56,906,472 (GRCm39) |
D402N |
probably damaging |
Het |
| Akap11 |
A |
G |
14: 78,750,408 (GRCm39) |
F660L |
probably damaging |
Het |
| Bcl3 |
T |
C |
7: 19,554,102 (GRCm39) |
T89A |
probably benign |
Het |
| Bub1b |
T |
C |
2: 118,467,251 (GRCm39) |
I858T |
possibly damaging |
Het |
| Cdk19 |
A |
G |
10: 40,352,214 (GRCm39) |
D288G |
possibly damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,502,530 (GRCm39) |
D202V |
probably damaging |
Het |
| Dip2c |
T |
G |
13: 9,625,259 (GRCm39) |
Y584* |
probably null |
Het |
| Dpf3 |
A |
T |
12: 83,378,635 (GRCm39) |
|
probably null |
Het |
| Drp2 |
G |
A |
X: 133,342,065 (GRCm39) |
R567H |
probably damaging |
Homo |
| Emid1 |
G |
T |
11: 5,081,512 (GRCm39) |
Q212K |
probably benign |
Het |
| Esm1 |
C |
T |
13: 113,349,933 (GRCm39) |
Q118* |
probably null |
Het |
| Fahd2a |
T |
G |
2: 127,278,284 (GRCm39) |
I308L |
probably benign |
Het |
| Fanci |
T |
C |
7: 79,085,126 (GRCm39) |
*851Q |
probably null |
Het |
| Fastkd1 |
C |
A |
2: 69,533,084 (GRCm39) |
V428F |
probably damaging |
Het |
| Fat2 |
A |
T |
11: 55,173,918 (GRCm39) |
I2265N |
probably damaging |
Het |
| Gale |
C |
A |
4: 135,694,171 (GRCm39) |
H191Q |
probably damaging |
Het |
| Ghsr |
T |
A |
3: 27,426,403 (GRCm39) |
V153E |
possibly damaging |
Het |
| Gpc6 |
A |
G |
14: 117,861,951 (GRCm39) |
N289S |
possibly damaging |
Het |
| Hoxb6 |
A |
T |
11: 96,191,537 (GRCm39) |
Y153F |
probably damaging |
Het |
| Ints3 |
T |
C |
3: 90,322,814 (GRCm39) |
T139A |
probably benign |
Het |
| Irf2bp2 |
A |
G |
8: 127,319,410 (GRCm39) |
S256P |
probably benign |
Het |
| Klf4 |
G |
T |
4: 55,530,640 (GRCm39) |
P148Q |
probably damaging |
Het |
| Loxl1 |
T |
G |
9: 58,219,820 (GRCm39) |
H117P |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,348,445 (GRCm39) |
K225E |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,267,344 (GRCm39) |
V1678D |
probably damaging |
Het |
| Med1 |
A |
T |
11: 98,054,730 (GRCm39) |
F398Y |
probably damaging |
Het |
| Mfap2 |
T |
C |
4: 140,742,889 (GRCm39) |
*186Q |
probably null |
Het |
| Mfsd3 |
T |
C |
15: 76,586,182 (GRCm39) |
L105P |
probably damaging |
Het |
| Mlxip |
T |
G |
5: 123,533,357 (GRCm39) |
I122S |
probably damaging |
Het |
| Mmrn2 |
A |
T |
14: 34,118,355 (GRCm39) |
Y107F |
probably damaging |
Het |
| Mtg1 |
G |
T |
7: 139,720,196 (GRCm39) |
D88Y |
probably null |
Het |
| Mutyh |
T |
A |
4: 116,675,132 (GRCm39) |
S426R |
probably benign |
Het |
| Myo16 |
C |
T |
8: 10,526,094 (GRCm39) |
T878I |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,768,755 (GRCm39) |
Y912* |
probably null |
Het |
| Ncor1 |
A |
C |
11: 62,234,167 (GRCm39) |
I669R |
probably damaging |
Het |
| Ndufs1 |
T |
C |
1: 63,202,935 (GRCm39) |
I210V |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,357,194 (GRCm39) |
C657R |
probably damaging |
Het |
| Noct |
C |
T |
3: 51,157,442 (GRCm39) |
T260I |
probably damaging |
Het |
| Nr1h4 |
A |
T |
10: 89,334,042 (GRCm39) |
M102K |
probably benign |
Het |
| Obscn |
G |
A |
11: 59,015,587 (GRCm39) |
R1054C |
possibly damaging |
Het |
| Or10ag58 |
T |
A |
2: 87,265,496 (GRCm39) |
F222I |
probably benign |
Het |
| Or1j20 |
C |
A |
2: 36,760,000 (GRCm39) |
Q141K |
probably benign |
Het |
| Or2a57 |
A |
G |
6: 43,213,390 (GRCm39) |
M283V |
possibly damaging |
Het |
| Or51ah3 |
T |
A |
7: 103,210,524 (GRCm39) |
I280N |
possibly damaging |
Het |
| Or52z14 |
A |
T |
7: 103,252,863 (GRCm39) |
M1L |
probably benign |
Het |
| Or5p75-ps1 |
G |
A |
7: 108,107,450 (GRCm39) |
M62I |
probably damaging |
Het |
| Otol1 |
C |
A |
3: 69,926,211 (GRCm39) |
Q129K |
probably benign |
Het |
| Otx1 |
A |
T |
11: 21,948,532 (GRCm39) |
|
probably null |
Het |
| Pcdhac2 |
C |
A |
18: 37,279,304 (GRCm39) |
N761K |
probably damaging |
Het |
| Pde1c |
A |
T |
6: 56,127,609 (GRCm39) |
M452K |
probably damaging |
Het |
| Phkg2 |
T |
C |
7: 127,173,113 (GRCm39) |
Y24H |
probably damaging |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Prg4 |
C |
T |
1: 150,336,432 (GRCm39) |
C97Y |
probably damaging |
Het |
| Ptdss1 |
T |
C |
13: 67,093,352 (GRCm39) |
V64A |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,289,231 (GRCm39) |
K324E |
probably damaging |
Het |
| Rfx5 |
G |
A |
3: 94,863,126 (GRCm39) |
V73I |
probably benign |
Het |
| Riiad1 |
T |
C |
3: 94,380,170 (GRCm39) |
T42A |
probably benign |
Het |
| Rnpep |
G |
T |
1: 135,190,770 (GRCm39) |
S592Y |
possibly damaging |
Het |
| Scap |
T |
C |
9: 110,207,458 (GRCm39) |
L431P |
probably damaging |
Het |
| Siglec1 |
T |
A |
2: 130,915,281 (GRCm39) |
I1437F |
possibly damaging |
Het |
| Skic3 |
T |
A |
13: 76,331,055 (GRCm39) |
M1495K |
probably damaging |
Het |
| Skint1 |
T |
C |
4: 111,885,530 (GRCm39) |
|
probably null |
Het |
| Slc44a1 |
A |
G |
4: 53,543,644 (GRCm39) |
E396G |
probably damaging |
Het |
| Slc4a2 |
T |
C |
5: 24,639,867 (GRCm39) |
F521S |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,004,129 (GRCm39) |
S394R |
probably damaging |
Het |
| Socs1 |
A |
G |
16: 10,602,549 (GRCm39) |
S63P |
probably benign |
Het |
| Spopfm2 |
C |
T |
3: 94,083,623 (GRCm39) |
G63R |
probably damaging |
Het |
| Sun1 |
T |
G |
5: 139,211,088 (GRCm39) |
S20A |
possibly damaging |
Het |
| Tac4 |
A |
T |
11: 95,156,068 (GRCm39) |
K50* |
probably null |
Het |
| Tasor |
T |
A |
14: 27,151,071 (GRCm39) |
W16R |
possibly damaging |
Het |
| Tcaf2 |
A |
G |
6: 42,619,574 (GRCm39) |
I151T |
probably damaging |
Het |
| Tcf4 |
T |
C |
18: 69,814,840 (GRCm39) |
V587A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,571,253 (GRCm39) |
K24801* |
probably null |
Het |
| Tuba3b |
G |
T |
6: 145,566,999 (GRCm39) |
M413I |
possibly damaging |
Het |
| Ufl1 |
C |
T |
4: 25,267,832 (GRCm39) |
A280T |
possibly damaging |
Het |
| Ugt2b5 |
T |
A |
5: 87,287,532 (GRCm39) |
I212L |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,205,459 (GRCm39) |
T685A |
probably benign |
Het |
| Uqcrc1 |
T |
A |
9: 108,773,878 (GRCm39) |
V183D |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,642,917 (GRCm39) |
N4093S |
probably benign |
Het |
| Vmn1r167 |
C |
T |
7: 23,204,653 (GRCm39) |
S121N |
probably damaging |
Het |
| Vmn1r47 |
A |
G |
6: 89,999,740 (GRCm39) |
S291G |
possibly damaging |
Het |
| Vmn2r108 |
A |
G |
17: 20,701,449 (GRCm39) |
V17A |
probably benign |
Het |
| Vmn2r58 |
T |
A |
7: 41,487,176 (GRCm39) |
H573L |
probably benign |
Het |
| Xirp1 |
C |
T |
9: 119,847,858 (GRCm39) |
V342I |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,051,204 (GRCm39) |
M2226V |
possibly damaging |
Het |
| Zfp467 |
G |
A |
6: 48,415,963 (GRCm39) |
H230Y |
probably damaging |
Het |
| Zfp595 |
T |
A |
13: 67,464,465 (GRCm39) |
K599N |
probably damaging |
Het |
| Zfp819 |
C |
A |
7: 43,266,720 (GRCm39) |
T401K |
probably benign |
Het |
|
| Other mutations in Rims2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00339:Rims2
|
APN |
15 |
39,323,011 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL00502:Rims2
|
APN |
15 |
39,370,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00556:Rims2
|
APN |
15 |
39,320,070 (GRCm39) |
splice site |
probably null |
|
|
IGL00811:Rims2
|
APN |
15 |
39,155,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00827:Rims2
|
APN |
15 |
39,335,755 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01642:Rims2
|
APN |
15 |
39,321,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02951:Rims2
|
APN |
15 |
39,398,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03009:Rims2
|
APN |
15 |
39,430,393 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03080:Rims2
|
APN |
15 |
39,399,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03102:Rims2
|
APN |
15 |
39,322,989 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03252:Rims2
|
APN |
15 |
39,315,748 (GRCm39) |
missense |
probably benign |
|
|
IGL03365:Rims2
|
APN |
15 |
39,339,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03393:Rims2
|
APN |
15 |
39,326,009 (GRCm39) |
splice site |
probably null |
|
|
IGL03409:Rims2
|
APN |
15 |
39,320,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
rhyme
|
UTSW |
15 |
39,315,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4486001:Rims2
|
UTSW |
15 |
39,339,916 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0009:Rims2
|
UTSW |
15 |
39,398,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0009:Rims2
|
UTSW |
15 |
39,398,362 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0078:Rims2
|
UTSW |
15 |
39,398,251 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0367:Rims2
|
UTSW |
15 |
39,326,011 (GRCm39) |
splice site |
probably null |
|
|
R0401:Rims2
|
UTSW |
15 |
39,373,028 (GRCm39) |
splice site |
probably benign |
|
|
R0531:Rims2
|
UTSW |
15 |
39,430,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0791:Rims2
|
UTSW |
15 |
39,543,021 (GRCm39) |
splice site |
probably benign |
|
|
R0838:Rims2
|
UTSW |
15 |
39,544,421 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1201:Rims2
|
UTSW |
15 |
39,479,720 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1318:Rims2
|
UTSW |
15 |
39,381,222 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1457:Rims2
|
UTSW |
15 |
39,374,710 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R1619:Rims2
|
UTSW |
15 |
39,370,382 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1672:Rims2
|
UTSW |
15 |
39,155,584 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1743:Rims2
|
UTSW |
15 |
39,543,046 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1766:Rims2
|
UTSW |
15 |
39,325,976 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1779:Rims2
|
UTSW |
15 |
39,545,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1804:Rims2
|
UTSW |
15 |
39,300,439 (GRCm39) |
nonsense |
probably null |
|
|
R1985:Rims2
|
UTSW |
15 |
39,208,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1986:Rims2
|
UTSW |
15 |
39,208,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2113:Rims2
|
UTSW |
15 |
39,374,722 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2260:Rims2
|
UTSW |
15 |
39,341,962 (GRCm39) |
nonsense |
probably null |
|
|
R2510:Rims2
|
UTSW |
15 |
39,449,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3693:Rims2
|
UTSW |
15 |
39,341,971 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3937:Rims2
|
UTSW |
15 |
39,301,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4425:Rims2
|
UTSW |
15 |
39,301,320 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4453:Rims2
|
UTSW |
15 |
39,155,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4474:Rims2
|
UTSW |
15 |
39,325,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4518:Rims2
|
UTSW |
15 |
39,300,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4526:Rims2
|
UTSW |
15 |
39,301,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4833:Rims2
|
UTSW |
15 |
39,399,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4936:Rims2
|
UTSW |
15 |
39,301,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Rims2
|
UTSW |
15 |
39,315,824 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5054:Rims2
|
UTSW |
15 |
39,381,265 (GRCm39) |
splice site |
probably null |
|
|
R5072:Rims2
|
UTSW |
15 |
39,325,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5171:Rims2
|
UTSW |
15 |
39,300,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5429:Rims2
|
UTSW |
15 |
39,208,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5623:Rims2
|
UTSW |
15 |
39,342,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5624:Rims2
|
UTSW |
15 |
39,208,809 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5685:Rims2
|
UTSW |
15 |
39,300,602 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5784:Rims2
|
UTSW |
15 |
39,399,383 (GRCm39) |
splice site |
probably null |
|
|
R5790:Rims2
|
UTSW |
15 |
39,544,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5822:Rims2
|
UTSW |
15 |
39,339,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5963:Rims2
|
UTSW |
15 |
39,300,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Rims2
|
UTSW |
15 |
39,155,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Rims2
|
UTSW |
15 |
39,538,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6239:Rims2
|
UTSW |
15 |
39,061,758 (GRCm39) |
start codon destroyed |
unknown |
|
|
R6407:Rims2
|
UTSW |
15 |
39,315,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6418:Rims2
|
UTSW |
15 |
39,373,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6495:Rims2
|
UTSW |
15 |
39,381,208 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6502:Rims2
|
UTSW |
15 |
39,398,251 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6753:Rims2
|
UTSW |
15 |
39,430,369 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6855:Rims2
|
UTSW |
15 |
39,208,911 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6948:Rims2
|
UTSW |
15 |
39,374,737 (GRCm39) |
missense |
probably benign |
|
|
R7058:Rims2
|
UTSW |
15 |
39,449,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7167:Rims2
|
UTSW |
15 |
39,300,473 (GRCm39) |
missense |
probably benign |
|
|
R7217:Rims2
|
UTSW |
15 |
39,339,885 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7223:Rims2
|
UTSW |
15 |
39,300,428 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7289:Rims2
|
UTSW |
15 |
39,301,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7459:Rims2
|
UTSW |
15 |
39,381,235 (GRCm39) |
missense |
probably benign |
|
|
R7663:Rims2
|
UTSW |
15 |
39,370,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7792:Rims2
|
UTSW |
15 |
39,061,923 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7836:Rims2
|
UTSW |
15 |
39,544,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8082:Rims2
|
UTSW |
15 |
39,339,919 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8489:Rims2
|
UTSW |
15 |
39,479,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8730:Rims2
|
UTSW |
15 |
39,381,239 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8830:Rims2
|
UTSW |
15 |
39,300,758 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8857:Rims2
|
UTSW |
15 |
39,543,044 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8893:Rims2
|
UTSW |
15 |
39,398,350 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9010:Rims2
|
UTSW |
15 |
39,315,786 (GRCm39) |
nonsense |
probably null |
|
|
R9030:Rims2
|
UTSW |
15 |
39,339,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9287:Rims2
|
UTSW |
15 |
39,543,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9395:Rims2
|
UTSW |
15 |
39,155,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Rims2
|
UTSW |
15 |
39,300,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9506:Rims2
|
UTSW |
15 |
39,335,832 (GRCm39) |
missense |
probably damaging |
0.97 |
|
X0034:Rims2
|
UTSW |
15 |
39,300,930 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Rims2
|
UTSW |
15 |
39,544,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rims2
|
UTSW |
15 |
39,342,086 (GRCm39) |
frame shift |
probably null |
|
|
Z1177:Rims2
|
UTSW |
15 |
39,301,165 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGATTTGCTTTGATCGGATC -3'
(R):5'- TGAGTTTGCAGGAACAATTGGC -3'
Sequencing Primer
(F):5'- GCTTTGATCGGATCTTAAAACCTTG -3'
(R):5'- GCAGGAACAATTGGCAATATTTTAG -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation