Incidental Mutation 'R5595:4930562C15Rik'
ID |
437801 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
4930562C15Rik
|
Ensembl Gene |
ENSMUSG00000022518 |
Gene Name |
RIKEN cDNA 4930562C15 gene |
Synonyms |
|
MMRRC Submission |
043147-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
R5595 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
4653280-4685550 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 4682143 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 991
(F991S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097784
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100211]
[ENSMUST00000171105]
[ENSMUST00000176394]
[ENSMUST00000176982]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000100211
AA Change: F991S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000097784 Gene: ENSMUSG00000022518 AA Change: F991S
Domain | Start | End | E-Value | Type |
coiled coil region
|
74 |
101 |
N/A |
INTRINSIC |
coiled coil region
|
181 |
211 |
N/A |
INTRINSIC |
internal_repeat_1
|
289 |
315 |
2.54e-5 |
PROSPERO |
internal_repeat_1
|
314 |
341 |
2.54e-5 |
PROSPERO |
low complexity region
|
360 |
377 |
N/A |
INTRINSIC |
low complexity region
|
402 |
424 |
N/A |
INTRINSIC |
low complexity region
|
452 |
469 |
N/A |
INTRINSIC |
low complexity region
|
573 |
604 |
N/A |
INTRINSIC |
low complexity region
|
616 |
627 |
N/A |
INTRINSIC |
low complexity region
|
630 |
647 |
N/A |
INTRINSIC |
low complexity region
|
652 |
672 |
N/A |
INTRINSIC |
Pfam:DUF4795
|
745 |
960 |
1.7e-46 |
PFAM |
low complexity region
|
1095 |
1109 |
N/A |
INTRINSIC |
low complexity region
|
1111 |
1125 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171105
AA Change: F152S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000127814 Gene: ENSMUSG00000022518 AA Change: F152S
Domain | Start | End | E-Value | Type |
Pfam:DUF4795
|
37 |
125 |
1.1e-20 |
PFAM |
low complexity region
|
256 |
270 |
N/A |
INTRINSIC |
low complexity region
|
272 |
286 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000175762
AA Change: F55S
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176394
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176982
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000180566
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180939
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
A |
G |
7: 43,147,296 (GRCm39) |
I218T |
possibly damaging |
Het |
9930111J21Rik2 |
C |
T |
11: 48,910,538 (GRCm39) |
A632T |
possibly damaging |
Het |
Akt1 |
A |
T |
12: 112,625,050 (GRCm39) |
L166Q |
probably null |
Het |
Alpk2 |
A |
T |
18: 65,399,319 (GRCm39) |
D2086E |
probably damaging |
Het |
Ankrd11 |
A |
T |
8: 123,621,043 (GRCm39) |
C915* |
probably null |
Het |
Ankrd44 |
T |
C |
1: 54,801,506 (GRCm39) |
T274A |
probably damaging |
Het |
Ankrd44 |
A |
T |
1: 54,774,209 (GRCm39) |
I398K |
probably damaging |
Het |
Arhgef2 |
A |
G |
3: 88,550,283 (GRCm39) |
T663A |
probably benign |
Het |
Btbd16 |
G |
A |
7: 130,425,033 (GRCm39) |
M471I |
possibly damaging |
Het |
Btbd16 |
C |
A |
7: 130,425,034 (GRCm39) |
Q472K |
probably damaging |
Het |
Cdc37 |
G |
A |
9: 21,054,509 (GRCm39) |
R39C |
probably damaging |
Het |
Cnnm1 |
A |
G |
19: 43,453,596 (GRCm39) |
N537S |
possibly damaging |
Het |
Cop1 |
T |
A |
1: 159,077,643 (GRCm39) |
D159E |
probably benign |
Het |
Crtac1 |
C |
T |
19: 42,402,390 (GRCm39) |
V73I |
probably benign |
Het |
Cryz |
T |
A |
3: 154,312,155 (GRCm39) |
V84E |
probably damaging |
Het |
Ctnnd2 |
C |
T |
15: 30,669,689 (GRCm39) |
L433F |
probably benign |
Het |
Ctsq |
C |
A |
13: 61,184,874 (GRCm39) |
D271Y |
probably benign |
Het |
Cyp3a25 |
A |
C |
5: 145,931,673 (GRCm39) |
|
probably null |
Het |
Dmbt1 |
G |
C |
7: 130,655,797 (GRCm39) |
W412C |
probably benign |
Het |
Eif4e1b |
G |
A |
13: 54,934,529 (GRCm39) |
V131I |
possibly damaging |
Het |
Epha1 |
A |
G |
6: 42,341,568 (GRCm39) |
V494A |
possibly damaging |
Het |
Fbxl4 |
T |
C |
4: 22,433,641 (GRCm39) |
S593P |
probably damaging |
Het |
Fbxo41 |
G |
A |
6: 85,456,883 (GRCm39) |
P429S |
probably benign |
Het |
Fem1al |
T |
C |
11: 29,774,288 (GRCm39) |
N390D |
probably benign |
Het |
Fgfr3 |
G |
A |
5: 33,887,347 (GRCm39) |
C204Y |
probably damaging |
Het |
Gbf1 |
T |
C |
19: 46,272,861 (GRCm39) |
V1665A |
possibly damaging |
Het |
Htt |
T |
A |
5: 35,062,741 (GRCm39) |
V2825E |
probably damaging |
Het |
Irs1 |
A |
T |
1: 82,267,646 (GRCm39) |
V190E |
probably damaging |
Het |
Kics2 |
T |
C |
10: 121,576,052 (GRCm39) |
|
probably benign |
Het |
Klk1 |
T |
C |
7: 43,878,161 (GRCm39) |
|
probably null |
Het |
Kmt2d |
T |
C |
15: 98,747,905 (GRCm39) |
|
probably benign |
Het |
Meox1 |
T |
C |
11: 101,770,169 (GRCm39) |
E186G |
probably damaging |
Het |
Micu2 |
G |
A |
14: 58,209,201 (GRCm39) |
R86W |
probably damaging |
Het |
Mrgprb1 |
A |
T |
7: 48,097,432 (GRCm39) |
I160K |
probably damaging |
Het |
Nckap1l |
T |
A |
15: 103,384,085 (GRCm39) |
M561K |
possibly damaging |
Het |
Or4c104 |
A |
T |
2: 88,586,749 (GRCm39) |
I90N |
probably damaging |
Het |
Or52s6 |
A |
T |
7: 103,091,635 (GRCm39) |
S232T |
probably damaging |
Het |
Or56b35 |
A |
T |
7: 104,963,213 (GRCm39) |
M1L |
probably benign |
Het |
Otoa |
T |
A |
7: 120,721,200 (GRCm39) |
L405H |
probably damaging |
Het |
Phyhip |
A |
T |
14: 70,704,314 (GRCm39) |
M178L |
probably benign |
Het |
Pkd1l3 |
A |
T |
8: 110,382,152 (GRCm39) |
N1630I |
probably damaging |
Het |
Plek2 |
T |
A |
12: 78,940,883 (GRCm39) |
T247S |
probably benign |
Het |
Rhbdl3 |
T |
C |
11: 80,228,409 (GRCm39) |
V293A |
probably damaging |
Het |
Rock2 |
T |
A |
12: 16,992,810 (GRCm39) |
F193Y |
probably damaging |
Het |
Scn3a |
C |
T |
2: 65,291,057 (GRCm39) |
M1896I |
probably benign |
Het |
Snrnp200 |
T |
C |
2: 127,067,933 (GRCm39) |
V810A |
probably damaging |
Het |
Taar4 |
G |
A |
10: 23,836,639 (GRCm39) |
S83N |
probably damaging |
Het |
Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
Tec |
T |
A |
5: 72,926,087 (GRCm39) |
I322F |
possibly damaging |
Het |
Teddm2 |
T |
C |
1: 153,726,146 (GRCm39) |
I190V |
probably benign |
Het |
Tmem117 |
A |
G |
15: 94,992,765 (GRCm39) |
E475G |
probably damaging |
Het |
Trip10 |
T |
A |
17: 57,569,460 (GRCm39) |
Y495N |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,638,695 (GRCm39) |
V4035A |
possibly damaging |
Het |
Utrn |
C |
T |
10: 12,558,062 (GRCm39) |
V1466M |
possibly damaging |
Het |
Vasp |
A |
G |
7: 18,991,816 (GRCm39) |
|
probably benign |
Het |
Vmn1r89 |
A |
T |
7: 12,953,857 (GRCm39) |
M130L |
possibly damaging |
Het |
Vmn2r2 |
A |
T |
3: 64,034,036 (GRCm39) |
D495E |
possibly damaging |
Het |
Zfp213 |
A |
G |
17: 23,780,160 (GRCm39) |
V120A |
possibly damaging |
Het |
|
Other mutations in 4930562C15Rik |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00936:4930562C15Rik
|
APN |
16 |
4,682,510 (GRCm39) |
missense |
probably benign |
0.31 |
IGL01610:4930562C15Rik
|
APN |
16 |
4,669,429 (GRCm39) |
splice site |
probably benign |
|
IGL02869:4930562C15Rik
|
APN |
16 |
4,685,323 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL03242:4930562C15Rik
|
APN |
16 |
4,667,189 (GRCm39) |
missense |
unknown |
|
R0063:4930562C15Rik
|
UTSW |
16 |
4,678,912 (GRCm39) |
nonsense |
probably null |
|
R0063:4930562C15Rik
|
UTSW |
16 |
4,678,912 (GRCm39) |
nonsense |
probably null |
|
R0083:4930562C15Rik
|
UTSW |
16 |
4,667,406 (GRCm39) |
missense |
unknown |
|
R0565:4930562C15Rik
|
UTSW |
16 |
4,682,200 (GRCm39) |
missense |
probably benign |
0.22 |
R0630:4930562C15Rik
|
UTSW |
16 |
4,668,803 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0734:4930562C15Rik
|
UTSW |
16 |
4,668,198 (GRCm39) |
missense |
probably benign |
0.01 |
R1200:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
R1738:4930562C15Rik
|
UTSW |
16 |
4,682,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R1775:4930562C15Rik
|
UTSW |
16 |
4,669,422 (GRCm39) |
splice site |
probably null |
|
R1945:4930562C15Rik
|
UTSW |
16 |
4,653,549 (GRCm39) |
missense |
unknown |
|
R2132:4930562C15Rik
|
UTSW |
16 |
4,653,835 (GRCm39) |
missense |
unknown |
|
R2445:4930562C15Rik
|
UTSW |
16 |
4,682,261 (GRCm39) |
splice site |
probably null |
|
R2696:4930562C15Rik
|
UTSW |
16 |
4,668,228 (GRCm39) |
missense |
probably benign |
0.04 |
R4729:4930562C15Rik
|
UTSW |
16 |
4,667,187 (GRCm39) |
missense |
unknown |
|
R4779:4930562C15Rik
|
UTSW |
16 |
4,667,613 (GRCm39) |
missense |
unknown |
|
R4806:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
R4808:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
R4876:4930562C15Rik
|
UTSW |
16 |
4,667,536 (GRCm39) |
missense |
unknown |
|
R4931:4930562C15Rik
|
UTSW |
16 |
4,678,910 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4956:4930562C15Rik
|
UTSW |
16 |
4,672,816 (GRCm39) |
missense |
probably damaging |
0.99 |
R5085:4930562C15Rik
|
UTSW |
16 |
4,653,837 (GRCm39) |
nonsense |
probably null |
|
R5203:4930562C15Rik
|
UTSW |
16 |
4,653,462 (GRCm39) |
missense |
unknown |
|
R5229:4930562C15Rik
|
UTSW |
16 |
4,667,915 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5461:4930562C15Rik
|
UTSW |
16 |
4,682,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R5462:4930562C15Rik
|
UTSW |
16 |
4,682,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R5464:4930562C15Rik
|
UTSW |
16 |
4,682,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R6054:4930562C15Rik
|
UTSW |
16 |
4,653,729 (GRCm39) |
missense |
unknown |
|
R6405:4930562C15Rik
|
UTSW |
16 |
4,669,742 (GRCm39) |
missense |
probably damaging |
0.97 |
R6859:4930562C15Rik
|
UTSW |
16 |
4,669,799 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7124:4930562C15Rik
|
UTSW |
16 |
4,682,196 (GRCm39) |
missense |
probably benign |
0.02 |
R7139:4930562C15Rik
|
UTSW |
16 |
4,668,048 (GRCm39) |
missense |
probably benign |
0.00 |
R7182:4930562C15Rik
|
UTSW |
16 |
4,667,578 (GRCm39) |
missense |
unknown |
|
R7219:4930562C15Rik
|
UTSW |
16 |
4,667,508 (GRCm39) |
missense |
unknown |
|
R7366:4930562C15Rik
|
UTSW |
16 |
4,653,633 (GRCm39) |
missense |
unknown |
|
R7592:4930562C15Rik
|
UTSW |
16 |
4,667,138 (GRCm39) |
missense |
unknown |
|
R7759:4930562C15Rik
|
UTSW |
16 |
4,682,514 (GRCm39) |
missense |
probably benign |
0.01 |
R7789:4930562C15Rik
|
UTSW |
16 |
4,682,175 (GRCm39) |
missense |
probably benign |
0.01 |
R7873:4930562C15Rik
|
UTSW |
16 |
4,684,091 (GRCm39) |
missense |
probably benign |
|
R7916:4930562C15Rik
|
UTSW |
16 |
4,682,454 (GRCm39) |
nonsense |
probably null |
|
R8093:4930562C15Rik
|
UTSW |
16 |
4,669,368 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8169:4930562C15Rik
|
UTSW |
16 |
4,684,082 (GRCm39) |
missense |
probably benign |
0.00 |
R8278:4930562C15Rik
|
UTSW |
16 |
4,668,040 (GRCm39) |
missense |
probably benign |
0.33 |
R8372:4930562C15Rik
|
UTSW |
16 |
4,682,152 (GRCm39) |
missense |
probably damaging |
0.99 |
R8493:4930562C15Rik
|
UTSW |
16 |
4,653,453 (GRCm39) |
start codon destroyed |
unknown |
|
R8549:4930562C15Rik
|
UTSW |
16 |
4,681,061 (GRCm39) |
critical splice donor site |
probably null |
|
R8947:4930562C15Rik
|
UTSW |
16 |
4,665,292 (GRCm39) |
missense |
unknown |
|
R9137:4930562C15Rik
|
UTSW |
16 |
4,685,312 (GRCm39) |
missense |
probably benign |
|
R9339:4930562C15Rik
|
UTSW |
16 |
4,667,521 (GRCm39) |
missense |
unknown |
|
R9422:4930562C15Rik
|
UTSW |
16 |
4,667,153 (GRCm39) |
missense |
|
|
R9561:4930562C15Rik
|
UTSW |
16 |
4,680,980 (GRCm39) |
missense |
possibly damaging |
0.52 |
R9618:4930562C15Rik
|
UTSW |
16 |
4,667,418 (GRCm39) |
missense |
unknown |
|
R9747:4930562C15Rik
|
UTSW |
16 |
4,668,711 (GRCm39) |
missense |
probably damaging |
1.00 |
R9773:4930562C15Rik
|
UTSW |
16 |
4,668,057 (GRCm39) |
missense |
possibly damaging |
0.86 |
X0028:4930562C15Rik
|
UTSW |
16 |
4,685,231 (GRCm39) |
missense |
possibly damaging |
0.83 |
Z1176:4930562C15Rik
|
UTSW |
16 |
4,684,112 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTCTGTACTGGTTCACCAC -3'
(R):5'- AGCTTCCTCAAGGTACCCAAAG -3'
Sequencing Primer
(F):5'- TGATACTATCCAGAGCCCT -3'
(R):5'- GATCAGAGTTTCATCTCACATCTGGG -3'
|
Posted On |
2016-10-26 |