Incidental Mutation 'R4261:1700010I14Rik'
| ID |
322675 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
1700010I14Rik
|
| Ensembl Gene |
ENSMUSG00000023873 |
| Gene Name |
RIKEN cDNA 1700010I14 gene |
| Synonyms |
|
| MMRRC Submission |
041074-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4261 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
9207152-9227151 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9214066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 298
(S298P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118841
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024650]
[ENSMUST00000151609]
|
| AlphaFold |
Q7TPG0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024650
AA Change: S298P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024650
Gene: ENSMUSG00000023873
AA Change: S298P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
135 |
165 |
N/A |
INTRINSIC |
|
Pfam:TSNAXIP1_N
|
239 |
349 |
6.1e-36 |
PFAM |
|
low complexity region
|
351 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
|
coiled coil region
|
421 |
466 |
N/A |
INTRINSIC |
|
low complexity region
|
501 |
519 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136954
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151609
AA Change: S298P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118841
Gene: ENSMUSG00000023873
AA Change: S298P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
135 |
165 |
N/A |
INTRINSIC |
|
coiled coil region
|
321 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
|
coiled coil region
|
421 |
466 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2573 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,947,927 (GRCm39) |
D608G |
possibly damaging |
Het |
| Actr10 |
T |
C |
12: 70,999,759 (GRCm39) |
V185A |
probably benign |
Het |
| Adam9 |
G |
A |
8: 25,454,923 (GRCm39) |
Q733* |
probably null |
Het |
| Adamts4 |
C |
T |
1: 171,086,673 (GRCm39) |
P822S |
probably benign |
Het |
| Arhgap9 |
G |
C |
10: 127,164,334 (GRCm39) |
R537P |
probably damaging |
Het |
| Bsn |
T |
A |
9: 107,987,883 (GRCm39) |
|
probably benign |
Het |
| Car5a |
A |
T |
8: 122,671,488 (GRCm39) |
H15Q |
probably benign |
Het |
| Disp1 |
A |
T |
1: 182,870,950 (GRCm39) |
I490N |
probably damaging |
Het |
| Dlgap5 |
T |
G |
14: 47,651,245 (GRCm39) |
Y96S |
probably damaging |
Het |
| Dnah10 |
T |
A |
5: 124,807,201 (GRCm39) |
V162D |
possibly damaging |
Het |
| Dock7 |
A |
T |
4: 98,892,123 (GRCm39) |
M821K |
possibly damaging |
Het |
| Exoc3l |
T |
C |
8: 106,017,599 (GRCm39) |
R528G |
probably damaging |
Het |
| Fam234b |
G |
A |
6: 135,186,134 (GRCm39) |
G17E |
unknown |
Het |
| Grhl2 |
G |
A |
15: 37,361,067 (GRCm39) |
G617D |
possibly damaging |
Het |
| Herc1 |
CTGAGGACTCTTTG |
CTG |
9: 66,355,630 (GRCm39) |
|
probably null |
Het |
| Hoxd9 |
C |
A |
2: 74,526,031 (GRCm39) |
|
probably benign |
Het |
| Hspa9 |
A |
G |
18: 35,072,476 (GRCm39) |
S550P |
probably damaging |
Het |
| Ide |
A |
C |
19: 37,306,585 (GRCm39) |
S63A |
unknown |
Het |
| Kat6b |
T |
A |
14: 21,719,737 (GRCm39) |
I1363N |
probably damaging |
Het |
| Ltbp1 |
T |
A |
17: 75,598,362 (GRCm39) |
C614* |
probably null |
Het |
| Mphosph8 |
A |
G |
14: 56,911,922 (GRCm39) |
D315G |
probably benign |
Het |
| Mthfr-ps1 |
A |
C |
5: 78,622,330 (GRCm39) |
|
noncoding transcript |
Het |
| Mug1 |
A |
G |
6: 121,850,693 (GRCm39) |
T730A |
probably benign |
Het |
| Myef2 |
T |
C |
2: 124,957,399 (GRCm39) |
T119A |
possibly damaging |
Het |
| Pald1 |
A |
G |
10: 61,179,471 (GRCm39) |
L466P |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,481,512 (GRCm39) |
V286M |
probably damaging |
Het |
| Pcdhgb2 |
A |
G |
18: 37,824,950 (GRCm39) |
D647G |
probably damaging |
Het |
| Pdgfrb |
A |
C |
18: 61,210,703 (GRCm39) |
T737P |
probably benign |
Het |
| Pgk2 |
T |
G |
17: 40,518,274 (GRCm39) |
T385P |
probably benign |
Het |
| Pkp4 |
A |
G |
2: 59,135,506 (GRCm39) |
Y126C |
probably damaging |
Het |
| Plppr1 |
A |
G |
4: 49,300,993 (GRCm39) |
I109V |
probably benign |
Het |
| Ppcs |
A |
G |
4: 119,279,106 (GRCm39) |
F149L |
probably damaging |
Het |
| Ppp2r5d |
G |
A |
17: 46,998,007 (GRCm39) |
Q219* |
probably null |
Het |
| Raf1 |
C |
T |
6: 115,600,015 (GRCm39) |
|
probably null |
Het |
| Rfx7 |
C |
T |
9: 72,523,925 (GRCm39) |
R372W |
probably damaging |
Het |
| Robo4 |
C |
A |
9: 37,316,877 (GRCm39) |
S397R |
probably benign |
Het |
| Sat1 |
T |
C |
X: 153,998,182 (GRCm39) |
|
probably benign |
Het |
| Serpina1c |
T |
C |
12: 103,863,339 (GRCm39) |
K287R |
probably benign |
Het |
| Sgsm2 |
T |
A |
11: 74,782,854 (GRCm39) |
H34L |
probably damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,896,374 (GRCm39) |
Y498H |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,628,384 (GRCm39) |
Y14592F |
probably damaging |
Het |
| Ube3b |
T |
C |
5: 114,536,489 (GRCm39) |
F245S |
possibly damaging |
Het |
| Ugt3a1 |
G |
A |
15: 9,335,879 (GRCm39) |
|
probably null |
Het |
| Wdr91 |
T |
A |
6: 34,881,457 (GRCm39) |
S297C |
possibly damaging |
Het |
| Zcwpw2 |
T |
C |
9: 117,827,982 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in 1700010I14Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00988:1700010I14Rik
|
APN |
17 |
9,215,937 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01569:1700010I14Rik
|
APN |
17 |
9,215,827 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03024:1700010I14Rik
|
APN |
17 |
9,212,464 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03410:1700010I14Rik
|
APN |
17 |
9,220,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0017:1700010I14Rik
|
UTSW |
17 |
9,226,938 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0017:1700010I14Rik
|
UTSW |
17 |
9,226,938 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0324:1700010I14Rik
|
UTSW |
17 |
9,219,989 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0361:1700010I14Rik
|
UTSW |
17 |
9,211,378 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0482:1700010I14Rik
|
UTSW |
17 |
9,207,255 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0529:1700010I14Rik
|
UTSW |
17 |
9,211,228 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1102:1700010I14Rik
|
UTSW |
17 |
9,211,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:1700010I14Rik
|
UTSW |
17 |
9,211,324 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3620:1700010I14Rik
|
UTSW |
17 |
9,226,864 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4259:1700010I14Rik
|
UTSW |
17 |
9,214,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4687:1700010I14Rik
|
UTSW |
17 |
9,210,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:1700010I14Rik
|
UTSW |
17 |
9,224,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4839:1700010I14Rik
|
UTSW |
17 |
9,226,845 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4979:1700010I14Rik
|
UTSW |
17 |
9,220,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5225:1700010I14Rik
|
UTSW |
17 |
9,226,839 (GRCm39) |
nonsense |
probably null |
|
|
R5383:1700010I14Rik
|
UTSW |
17 |
9,211,532 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6031:1700010I14Rik
|
UTSW |
17 |
9,214,084 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6031:1700010I14Rik
|
UTSW |
17 |
9,214,084 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6505:1700010I14Rik
|
UTSW |
17 |
9,220,772 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6736:1700010I14Rik
|
UTSW |
17 |
9,211,100 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7089:1700010I14Rik
|
UTSW |
17 |
9,226,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7097:1700010I14Rik
|
UTSW |
17 |
9,224,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7292:1700010I14Rik
|
UTSW |
17 |
9,215,861 (GRCm39) |
nonsense |
probably null |
|
|
R7405:1700010I14Rik
|
UTSW |
17 |
9,220,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7567:1700010I14Rik
|
UTSW |
17 |
9,226,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:1700010I14Rik
|
UTSW |
17 |
9,220,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:1700010I14Rik
|
UTSW |
17 |
9,226,939 (GRCm39) |
missense |
unknown |
|
|
R8805:1700010I14Rik
|
UTSW |
17 |
9,226,737 (GRCm39) |
nonsense |
probably null |
|
|
R9007:1700010I14Rik
|
UTSW |
17 |
9,226,935 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9308:1700010I14Rik
|
UTSW |
17 |
9,220,667 (GRCm39) |
nonsense |
probably null |
|
|
R9400:1700010I14Rik
|
UTSW |
17 |
9,211,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCCATGCGATTTATTCCTGTGG -3'
(R):5'- TATAGGCCAGATCCTCACCTG -3'
Sequencing Primer
(F):5'- TCTAGCCAGTCTATGAGCAGACATG -3'
(R):5'- CACCTGGAGAACTTCATATAAGAATC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation