Incidental Mutation 'R0328:4932414N04Rik'
| ID |
25827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
4932414N04Rik
|
| Ensembl Gene |
ENSMUSG00000079324 |
| Gene Name |
RIKEN cDNA 4932414N04 gene |
| Synonyms |
|
| MMRRC Submission |
038537-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0328 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
68487135-68578876 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 68574624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 618
(H618L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055930]
[ENSMUST00000128259]
|
| AlphaFold |
Q8CEQ9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000055930
AA Change: H618L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000059809
Gene: ENSMUSG00000079324
AA Change: H618L
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
154 |
241 |
N/A |
INTRINSIC |
|
Pfam:DUF3496
|
265 |
361 |
8.5e-12 |
PFAM |
|
internal_repeat_1
|
456 |
597 |
1.76e-26 |
PROSPERO |
|
internal_repeat_1
|
601 |
737 |
1.76e-26 |
PROSPERO |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128259
AA Change: H618L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000135792
Gene: ENSMUSG00000079324
AA Change: H618L
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
5 |
39 |
6.02e-5 |
PROSPERO |
|
internal_repeat_1
|
209 |
242 |
6.02e-5 |
PROSPERO |
|
low complexity region
|
286 |
297 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.5%
- 20x: 90.8%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aacs |
T |
C |
5: 125,593,323 (GRCm39) |
V642A |
probably benign |
Het |
| Alms1 |
A |
G |
6: 85,587,796 (GRCm39) |
|
probably null |
Het |
| Arhgap39 |
A |
G |
15: 76,636,152 (GRCm39) |
|
probably benign |
Het |
| Bard1 |
C |
T |
1: 71,085,921 (GRCm39) |
V595I |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,937,953 (GRCm39) |
K2713E |
probably damaging |
Het |
| Calhm1 |
C |
T |
19: 47,129,742 (GRCm39) |
G260D |
possibly damaging |
Het |
| Ccdc154 |
A |
C |
17: 25,390,779 (GRCm39) |
K643T |
probably benign |
Het |
| Ccl4 |
T |
A |
11: 83,554,383 (GRCm39) |
S59T |
probably damaging |
Het |
| Cntd1 |
T |
C |
11: 101,174,259 (GRCm39) |
S73P |
probably benign |
Het |
| Colgalt2 |
A |
T |
1: 152,348,859 (GRCm39) |
D168V |
probably damaging |
Het |
| Fam117a |
T |
C |
11: 95,266,452 (GRCm39) |
|
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,476,827 (GRCm39) |
T1935A |
probably benign |
Het |
| Fbxw21 |
T |
A |
9: 108,975,653 (GRCm39) |
I248F |
possibly damaging |
Het |
| Fhod3 |
A |
T |
18: 25,246,657 (GRCm39) |
M1288L |
probably benign |
Het |
| Gm5114 |
T |
G |
7: 39,057,885 (GRCm39) |
K578T |
probably damaging |
Het |
| Gxylt2 |
A |
T |
6: 100,727,496 (GRCm39) |
|
probably benign |
Het |
| Helz |
G |
T |
11: 107,495,174 (GRCm39) |
A383S |
probably benign |
Het |
| Ift172 |
C |
A |
5: 31,421,195 (GRCm39) |
E968* |
probably null |
Het |
| Itpripl1 |
T |
C |
2: 126,983,924 (GRCm39) |
N66S |
possibly damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,423,265 (GRCm39) |
Y686H |
probably damaging |
Het |
| Ndrg1 |
C |
A |
15: 66,815,008 (GRCm39) |
|
probably benign |
Het |
| Ogdh |
T |
C |
11: 6,297,216 (GRCm39) |
V545A |
probably benign |
Het |
| Or10al5 |
A |
G |
17: 38,063,284 (GRCm39) |
I180V |
possibly damaging |
Het |
| P3h3 |
G |
A |
6: 124,831,269 (GRCm39) |
|
probably benign |
Het |
| Ppme1 |
A |
T |
7: 99,983,182 (GRCm39) |
|
probably null |
Het |
| Prkag1 |
T |
G |
15: 98,713,563 (GRCm39) |
D44A |
probably damaging |
Het |
| Prpf39 |
T |
C |
12: 65,090,145 (GRCm39) |
|
probably benign |
Het |
| Rabep1 |
C |
A |
11: 70,810,033 (GRCm39) |
R489S |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,523,168 (GRCm39) |
V75A |
possibly damaging |
Het |
| Sema3d |
T |
C |
5: 12,498,042 (GRCm39) |
L16P |
possibly damaging |
Het |
| Skida1 |
T |
C |
2: 18,051,997 (GRCm39) |
|
probably benign |
Het |
| Sptbn4 |
T |
C |
7: 27,063,595 (GRCm39) |
Y2277C |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,298,945 (GRCm39) |
I1047T |
possibly damaging |
Het |
| Syt17 |
A |
G |
7: 117,981,216 (GRCm39) |
Y369H |
probably benign |
Het |
| Tmem131l |
C |
T |
3: 83,829,238 (GRCm39) |
|
probably benign |
Het |
| Traf3ip2 |
A |
T |
10: 39,510,669 (GRCm39) |
D314V |
probably damaging |
Het |
| Ttc28 |
T |
G |
5: 111,431,933 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
C |
7: 45,874,872 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,602,969 (GRCm39) |
Y1884N |
possibly damaging |
Het |
| Vmn2r112 |
T |
A |
17: 22,824,251 (GRCm39) |
I502K |
probably benign |
Het |
| Vmn2r60 |
T |
C |
7: 41,791,744 (GRCm39) |
|
probably benign |
Het |
| Vmn2r63 |
T |
C |
7: 42,552,699 (GRCm39) |
I852M |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,995,405 (GRCm39) |
E414D |
probably benign |
Het |
| Wnt4 |
A |
G |
4: 137,022,754 (GRCm39) |
T106A |
probably damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,807 (GRCm39) |
N76K |
possibly damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,309,445 (GRCm39) |
T885A |
probably benign |
Het |
|
| Other mutations in 4932414N04Rik |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:4932414N04Rik
|
APN |
2 |
68,563,219 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01384:4932414N04Rik
|
APN |
2 |
68,575,749 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02170:4932414N04Rik
|
APN |
2 |
68,561,467 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02650:4932414N04Rik
|
APN |
2 |
68,571,881 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02707:4932414N04Rik
|
APN |
2 |
68,561,474 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02737:4932414N04Rik
|
APN |
2 |
68,566,904 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03351:4932414N04Rik
|
APN |
2 |
68,561,427 (GRCm39) |
missense |
probably benign |
|
|
R0362:4932414N04Rik
|
UTSW |
2 |
68,563,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0638:4932414N04Rik
|
UTSW |
2 |
68,547,572 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1201:4932414N04Rik
|
UTSW |
2 |
68,546,626 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1381:4932414N04Rik
|
UTSW |
2 |
68,561,430 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1456:4932414N04Rik
|
UTSW |
2 |
68,546,558 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2001:4932414N04Rik
|
UTSW |
2 |
68,571,800 (GRCm39) |
missense |
probably benign |
|
|
R2051:4932414N04Rik
|
UTSW |
2 |
68,541,392 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R2228:4932414N04Rik
|
UTSW |
2 |
68,559,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2292:4932414N04Rik
|
UTSW |
2 |
68,562,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2357:4932414N04Rik
|
UTSW |
2 |
68,569,844 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2484:4932414N04Rik
|
UTSW |
2 |
68,541,819 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3035:4932414N04Rik
|
UTSW |
2 |
68,575,762 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3916:4932414N04Rik
|
UTSW |
2 |
68,562,329 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R3950:4932414N04Rik
|
UTSW |
2 |
68,494,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3951:4932414N04Rik
|
UTSW |
2 |
68,494,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3952:4932414N04Rik
|
UTSW |
2 |
68,494,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4091:4932414N04Rik
|
UTSW |
2 |
68,575,722 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4118:4932414N04Rik
|
UTSW |
2 |
68,566,857 (GRCm39) |
missense |
probably benign |
|
|
R4153:4932414N04Rik
|
UTSW |
2 |
68,498,941 (GRCm39) |
intron |
probably benign |
|
|
R4210:4932414N04Rik
|
UTSW |
2 |
68,490,222 (GRCm39) |
start gained |
probably benign |
|
|
R4614:4932414N04Rik
|
UTSW |
2 |
68,575,804 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4818:4932414N04Rik
|
UTSW |
2 |
68,571,810 (GRCm39) |
missense |
probably benign |
|
|
R5202:4932414N04Rik
|
UTSW |
2 |
68,562,308 (GRCm39) |
missense |
probably benign |
|
|
R5466:4932414N04Rik
|
UTSW |
2 |
68,541,733 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5585:4932414N04Rik
|
UTSW |
2 |
68,571,770 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5602:4932414N04Rik
|
UTSW |
2 |
68,578,712 (GRCm39) |
makesense |
probably null |
|
|
R5846:4932414N04Rik
|
UTSW |
2 |
68,562,377 (GRCm39) |
missense |
unknown |
|
|
R5902:4932414N04Rik
|
UTSW |
2 |
68,539,281 (GRCm39) |
start codon destroyed |
probably null |
|
|
R6002:4932414N04Rik
|
UTSW |
2 |
68,492,768 (GRCm39) |
splice site |
probably null |
|
|
R6029:4932414N04Rik
|
UTSW |
2 |
68,524,370 (GRCm39) |
splice site |
probably null |
|
|
R6093:4932414N04Rik
|
UTSW |
2 |
68,490,214 (GRCm39) |
splice site |
probably benign |
|
|
R6168:4932414N04Rik
|
UTSW |
2 |
68,571,827 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6300:4932414N04Rik
|
UTSW |
2 |
68,561,453 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6322:4932414N04Rik
|
UTSW |
2 |
68,559,843 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6533:4932414N04Rik
|
UTSW |
2 |
68,546,662 (GRCm39) |
nonsense |
probably null |
|
|
R6547:4932414N04Rik
|
UTSW |
2 |
68,490,251 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R7309:4932414N04Rik
|
UTSW |
2 |
68,546,530 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7400:4932414N04Rik
|
UTSW |
2 |
68,496,547 (GRCm39) |
missense |
unknown |
|
|
R7454:4932414N04Rik
|
UTSW |
2 |
68,518,648 (GRCm39) |
missense |
unknown |
|
|
R7481:4932414N04Rik
|
UTSW |
2 |
68,494,575 (GRCm39) |
missense |
unknown |
|
|
R7498:4932414N04Rik
|
UTSW |
2 |
68,498,012 (GRCm39) |
missense |
unknown |
|
|
R7523:4932414N04Rik
|
UTSW |
2 |
68,569,673 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7523:4932414N04Rik
|
UTSW |
2 |
68,492,824 (GRCm39) |
missense |
unknown |
|
|
R7583:4932414N04Rik
|
UTSW |
2 |
68,569,670 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7701:4932414N04Rik
|
UTSW |
2 |
68,561,548 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7746:4932414N04Rik
|
UTSW |
2 |
68,559,339 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7778:4932414N04Rik
|
UTSW |
2 |
68,569,855 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7985:4932414N04Rik
|
UTSW |
2 |
68,494,693 (GRCm39) |
missense |
unknown |
|
|
R8525:4932414N04Rik
|
UTSW |
2 |
68,559,378 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8765:4932414N04Rik
|
UTSW |
2 |
68,566,956 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8906:4932414N04Rik
|
UTSW |
2 |
68,562,498 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9406:4932414N04Rik
|
UTSW |
2 |
68,498,019 (GRCm39) |
missense |
unknown |
|
|
R9627:4932414N04Rik
|
UTSW |
2 |
68,487,834 (GRCm39) |
unclassified |
probably benign |
|
|
X0025:4932414N04Rik
|
UTSW |
2 |
68,559,360 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGTAACGGCCATTCCCTTTCACA -3'
(R):5'- GCAACCCGAACTTGGGCAATAAGA -3'
Sequencing Primer
(F):5'- AGGTCAGTCTTTCTGAAGCAC -3'
(R):5'- CTTGGGCAATAAGAGAAACTACTTTG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation