Incidental Mutation 'R6354:Gm4787'
| ID |
512983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| MMRRC Submission |
044506-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R6354 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
81423765-81426238 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 81424755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 468
(A468T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062182]
[ENSMUST00000110340]
[ENSMUST00000164386]
[ENSMUST00000166723]
|
| AlphaFold |
B2RUD9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062182
AA Change: A468T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: A468T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
46 |
163 |
1.5e-19 |
PFAM |
|
Pfam:Reprolysin
|
213 |
406 |
4.6e-18 |
PFAM |
|
DISIN
|
425 |
500 |
2e-33 |
SMART |
|
ACR
|
501 |
644 |
2.83e-53 |
SMART |
|
transmembrane domain
|
714 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000087222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110340
|
| SMART Domains |
Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX16
|
16 |
74 |
6.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164386
|
| SMART Domains |
Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
21 |
100 |
6.16e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166723
|
| SMART Domains |
Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX16
|
16 |
73 |
6.9e-16 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.5%
- 20x: 95.3%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
T |
C |
11: 109,685,042 (GRCm39) |
K152E |
probably benign |
Het |
| Adamts20 |
C |
A |
15: 94,245,691 (GRCm39) |
C537F |
probably damaging |
Het |
| Apc |
A |
T |
18: 34,445,581 (GRCm39) |
T808S |
probably benign |
Het |
| Atad3a |
A |
G |
4: 155,838,402 (GRCm39) |
I205T |
possibly damaging |
Het |
| Casz1 |
G |
T |
4: 149,036,999 (GRCm39) |
G1754C |
unknown |
Het |
| Ccdc62 |
C |
T |
5: 124,082,267 (GRCm39) |
A232V |
probably damaging |
Het |
| Cdc27 |
C |
A |
11: 104,425,574 (GRCm39) |
D81Y |
probably damaging |
Het |
| Cep126 |
A |
G |
9: 8,099,928 (GRCm39) |
S869P |
probably damaging |
Het |
| Cfap251 |
C |
T |
5: 123,440,818 (GRCm39) |
T1125I |
probably damaging |
Het |
| Ciita |
A |
T |
16: 10,341,610 (GRCm39) |
K983N |
probably damaging |
Het |
| Cimap1a |
A |
G |
7: 140,430,527 (GRCm39) |
|
probably null |
Het |
| Clstn1 |
A |
C |
4: 149,727,673 (GRCm39) |
Q523P |
probably benign |
Het |
| Cpb2 |
T |
C |
14: 75,495,145 (GRCm39) |
|
probably null |
Het |
| Crybg2 |
A |
G |
4: 133,818,447 (GRCm39) |
D1710G |
probably benign |
Het |
| Csmd3 |
C |
T |
15: 47,744,885 (GRCm39) |
G1370D |
probably damaging |
Het |
| Cwf19l1 |
G |
T |
19: 44,115,912 (GRCm39) |
D172E |
probably benign |
Het |
| Cyp4a14 |
A |
G |
4: 115,344,441 (GRCm39) |
F475L |
probably damaging |
Het |
| Fam98c |
C |
T |
7: 28,852,272 (GRCm39) |
V298M |
probably damaging |
Het |
| Gcsh |
T |
C |
8: 117,710,582 (GRCm39) |
N127S |
probably benign |
Het |
| Gimap4 |
T |
C |
6: 48,663,814 (GRCm39) |
F10S |
possibly damaging |
Het |
| Gm5111 |
G |
A |
6: 48,567,268 (GRCm39) |
|
probably benign |
Het |
| Gm7137 |
C |
A |
10: 77,623,481 (GRCm39) |
|
probably benign |
Het |
| Inpp1 |
A |
G |
1: 52,836,224 (GRCm39) |
S81P |
probably damaging |
Het |
| Iqce |
T |
C |
5: 140,662,090 (GRCm39) |
|
probably null |
Het |
| Ivl |
CCTGCTGCTGCTGCT |
CCTGCTGCTGCT |
3: 92,479,217 (GRCm39) |
|
probably benign |
Het |
| Krtap13 |
C |
A |
16: 88,548,131 (GRCm39) |
C119F |
probably damaging |
Het |
| Lama2 |
G |
T |
10: 27,088,064 (GRCm39) |
D904E |
probably damaging |
Het |
| Lrrc37a |
T |
A |
11: 103,355,213 (GRCm39) |
I2535F |
unknown |
Het |
| Lrrc40 |
T |
A |
3: 157,766,901 (GRCm39) |
L452* |
probably null |
Het |
| Meis1 |
A |
T |
11: 18,966,184 (GRCm39) |
M63K |
possibly damaging |
Het |
| Mpo |
T |
A |
11: 87,688,172 (GRCm39) |
I277N |
possibly damaging |
Het |
| Mtmr11 |
T |
A |
3: 96,075,992 (GRCm39) |
F406I |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,575,476 (GRCm39) |
S1411P |
probably benign |
Het |
| Or2y1b |
A |
T |
11: 49,208,465 (GRCm39) |
I31F |
probably damaging |
Het |
| Or4c102 |
T |
A |
2: 88,422,478 (GRCm39) |
I110N |
probably damaging |
Het |
| Or56a5 |
G |
A |
7: 104,792,915 (GRCm39) |
T195I |
probably benign |
Het |
| Phf21a |
G |
A |
2: 92,179,282 (GRCm39) |
G298R |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,645,477 (GRCm39) |
Y368C |
probably damaging |
Het |
| Pik3cb |
G |
T |
9: 98,955,696 (GRCm39) |
T407K |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,328,513 (GRCm39) |
|
probably benign |
Het |
| Sgsm1 |
T |
G |
5: 113,430,522 (GRCm39) |
T288P |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,584,061 (GRCm39) |
S410P |
probably damaging |
Het |
| Tmc6 |
A |
C |
11: 117,665,062 (GRCm39) |
C404G |
probably benign |
Het |
| Tnrc6c |
A |
T |
11: 117,640,440 (GRCm39) |
Q1410L |
possibly damaging |
Het |
| Trak1 |
A |
T |
9: 121,280,792 (GRCm39) |
T384S |
probably null |
Het |
| Txlna |
A |
T |
4: 129,528,205 (GRCm39) |
L244Q |
probably damaging |
Het |
| Ube3c |
T |
C |
5: 29,868,581 (GRCm39) |
F939L |
probably damaging |
Het |
| Vmn2r65 |
T |
A |
7: 84,589,574 (GRCm39) |
I781F |
probably benign |
Het |
| Vmn2r72 |
A |
G |
7: 85,399,747 (GRCm39) |
|
probably null |
Het |
| Vps36 |
T |
C |
8: 22,695,771 (GRCm39) |
S109P |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,833,666 (GRCm39) |
I82M |
possibly damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,360,903 (GRCm39) |
R511G |
possibly damaging |
Het |
| Zeb1 |
A |
G |
18: 5,772,743 (GRCm39) |
T1011A |
possibly damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,467,011 (GRCm39) |
S2390P |
probably benign |
Het |
| Zfp619 |
C |
A |
7: 39,184,243 (GRCm39) |
T91K |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,784,619 (GRCm39) |
S643P |
probably benign |
Het |
|
| Other mutations in Gm4787 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01719:Gm4787
|
APN |
12 |
81,423,948 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01916:Gm4787
|
APN |
12 |
81,424,218 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02193:Gm4787
|
APN |
12 |
81,425,302 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02623:Gm4787
|
APN |
12 |
81,425,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02681:Gm4787
|
APN |
12 |
81,425,543 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03257:Gm4787
|
APN |
12 |
81,424,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03410:Gm4787
|
APN |
12 |
81,425,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
F5770:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
|
PIT4362001:Gm4787
|
UTSW |
12 |
81,423,949 (GRCm39) |
missense |
probably benign |
|
|
R0070:Gm4787
|
UTSW |
12 |
81,425,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0128:Gm4787
|
UTSW |
12 |
81,424,521 (GRCm39) |
nonsense |
probably null |
|
|
R0220:Gm4787
|
UTSW |
12 |
81,425,422 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0304:Gm4787
|
UTSW |
12 |
81,425,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0513:Gm4787
|
UTSW |
12 |
81,425,086 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1761:Gm4787
|
UTSW |
12 |
81,423,950 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1809:Gm4787
|
UTSW |
12 |
81,425,303 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1853:Gm4787
|
UTSW |
12 |
81,425,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Gm4787
|
UTSW |
12 |
81,425,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2030:Gm4787
|
UTSW |
12 |
81,425,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Gm4787
|
UTSW |
12 |
81,425,694 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2112:Gm4787
|
UTSW |
12 |
81,424,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2140:Gm4787
|
UTSW |
12 |
81,425,336 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2151:Gm4787
|
UTSW |
12 |
81,423,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2152:Gm4787
|
UTSW |
12 |
81,423,993 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2342:Gm4787
|
UTSW |
12 |
81,425,532 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2504:Gm4787
|
UTSW |
12 |
81,425,911 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4038:Gm4787
|
UTSW |
12 |
81,425,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4604:Gm4787
|
UTSW |
12 |
81,425,987 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4748:Gm4787
|
UTSW |
12 |
81,424,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Gm4787
|
UTSW |
12 |
81,425,141 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4928:Gm4787
|
UTSW |
12 |
81,425,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4960:Gm4787
|
UTSW |
12 |
81,426,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4974:Gm4787
|
UTSW |
12 |
81,424,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5028:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5029:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5031:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5098:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5099:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5100:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5101:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5135:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5152:Gm4787
|
UTSW |
12 |
81,425,451 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5180:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5220:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5257:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5258:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5297:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5324:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5325:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5355:Gm4787
|
UTSW |
12 |
81,424,239 (GRCm39) |
nonsense |
probably null |
|
|
R5364:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5396:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5397:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5398:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5514:Gm4787
|
UTSW |
12 |
81,425,102 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5634:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5666:Gm4787
|
UTSW |
12 |
81,424,805 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5670:Gm4787
|
UTSW |
12 |
81,424,805 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5787:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5788:Gm4787
|
UTSW |
12 |
81,424,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6932:Gm4787
|
UTSW |
12 |
81,425,974 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7120:Gm4787
|
UTSW |
12 |
81,425,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7237:Gm4787
|
UTSW |
12 |
81,424,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7937:Gm4787
|
UTSW |
12 |
81,424,679 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8022:Gm4787
|
UTSW |
12 |
81,424,494 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8140:Gm4787
|
UTSW |
12 |
81,424,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8314:Gm4787
|
UTSW |
12 |
81,425,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8480:Gm4787
|
UTSW |
12 |
81,424,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8498:Gm4787
|
UTSW |
12 |
81,425,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8515:Gm4787
|
UTSW |
12 |
81,424,043 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9103:Gm4787
|
UTSW |
12 |
81,425,489 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9457:Gm4787
|
UTSW |
12 |
81,426,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9557:Gm4787
|
UTSW |
12 |
81,426,074 (GRCm39) |
nonsense |
probably null |
|
|
R9608:Gm4787
|
UTSW |
12 |
81,425,086 (GRCm39) |
missense |
probably benign |
0.03 |
|
V7580:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
|
V7581:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
|
V7582:Gm4787
|
UTSW |
12 |
81,424,341 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTGACACTGCAAATGACG -3'
(R):5'- ACATATGAGGATCCATGGTTGGG -3'
Sequencing Primer
(F):5'- GCAAATGACGGTCAGTACAGTTTCC -3'
(R):5'- ATCCTTGCATGAGTGAAGTGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation