Incidental Mutation 'R5297:Gm4787'
| ID |
405503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| MMRRC Submission |
042880-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
R5297 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
81376991-81379464 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 81377830 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 518
(T518S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077390
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062182]
[ENSMUST00000110340]
[ENSMUST00000164386]
[ENSMUST00000166723]
|
| AlphaFold |
B2RUD9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062182
AA Change: T518S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: T518S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
G |
T |
1: 155,587,458 (GRCm38) |
A135S |
probably benign |
Het |
| Agbl4 |
A |
G |
4: 111,566,698 (GRCm38) |
K307R |
possibly damaging |
Het |
| Akna |
T |
C |
4: 63,381,846 (GRCm38) |
E653G |
possibly damaging |
Het |
| Arhgap26 |
T |
C |
18: 39,121,888 (GRCm38) |
Y273H |
probably damaging |
Het |
| Atg14 |
G |
A |
14: 47,568,199 (GRCm38) |
R70C |
probably damaging |
Het |
| Atp1a1 |
C |
T |
3: 101,591,127 (GRCm38) |
V250M |
possibly damaging |
Het |
| Cacna1c |
T |
G |
6: 118,742,361 (GRCm38) |
D215A |
probably damaging |
Het |
| Cadps |
T |
A |
14: 12,822,345 (GRCm38) |
N132Y |
probably damaging |
Het |
| Casp6 |
T |
C |
3: 129,910,555 (GRCm38) |
F97L |
possibly damaging |
Het |
| Ckap2l |
T |
C |
2: 129,285,370 (GRCm38) |
N296S |
possibly damaging |
Het |
| Col6a4 |
T |
C |
9: 106,074,867 (GRCm38) |
K611E |
probably benign |
Het |
| Copa |
A |
G |
1: 172,113,108 (GRCm38) |
H696R |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,312,204 (GRCm38) |
N283K |
probably benign |
Het |
| Dcc |
C |
T |
18: 71,378,738 (GRCm38) |
V869I |
probably benign |
Het |
| Efemp1 |
G |
T |
11: 28,867,868 (GRCm38) |
G116C |
probably damaging |
Het |
| F830045P16Rik |
T |
C |
2: 129,460,553 (GRCm38) |
E373G |
probably benign |
Het |
| Fbxo9 |
T |
C |
9: 78,086,279 (GRCm38) |
T318A |
probably benign |
Het |
| Gipr |
A |
G |
7: 19,157,544 (GRCm38) |
W403R |
probably damaging |
Het |
| Golgb1 |
G |
A |
16: 36,875,616 (GRCm38) |
|
probably benign |
Het |
| Hdac1-ps |
A |
G |
17: 78,492,758 (GRCm38) |
S393G |
probably benign |
Het |
| Herc3 |
T |
C |
6: 58,856,641 (GRCm38) |
L171P |
probably damaging |
Het |
| Il5ra |
A |
G |
6: 106,738,134 (GRCm38) |
I221T |
probably benign |
Het |
| Itgb2 |
A |
G |
10: 77,564,667 (GRCm38) |
I705V |
probably damaging |
Het |
| Map4k4 |
G |
T |
1: 39,962,217 (GRCm38) |
V55F |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 84,913,318 (GRCm38) |
|
probably null |
Het |
| Mitf |
G |
T |
6: 97,994,430 (GRCm38) |
G186V |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,512,290 (GRCm38) |
D100N |
probably benign |
Het |
| Nrcam |
T |
C |
12: 44,544,784 (GRCm38) |
F204L |
probably damaging |
Het |
| Or10g1 |
A |
G |
14: 52,410,218 (GRCm38) |
L218P |
probably damaging |
Het |
| Or10x4 |
A |
G |
1: 174,391,200 (GRCm38) |
M44V |
probably benign |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,395,654 (GRCm38) |
|
probably null |
Het |
| Or1e22 |
A |
T |
11: 73,486,389 (GRCm38) |
V145E |
probably damaging |
Het |
| Or2a12 |
T |
C |
6: 42,927,437 (GRCm38) |
S69P |
probably benign |
Het |
| Or52n4b |
A |
T |
7: 108,545,404 (GRCm38) |
N291I |
probably damaging |
Het |
| Or5as1 |
T |
C |
2: 87,150,449 (GRCm38) |
I71V |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,676,249 (GRCm38) |
|
probably benign |
Het |
| Pik3ca |
T |
A |
3: 32,450,053 (GRCm38) |
Y631N |
probably damaging |
Het |
| Pramel19 |
T |
A |
4: 101,941,151 (GRCm38) |
D106E |
possibly damaging |
Het |
| Ptk2b |
T |
C |
14: 66,172,517 (GRCm38) |
D462G |
probably benign |
Het |
| Rnf19a |
A |
G |
15: 36,247,778 (GRCm38) |
S427P |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,469,034 (GRCm38) |
Y1376F |
possibly damaging |
Het |
| Shoc1 |
A |
G |
4: 59,047,543 (GRCm38) |
W1359R |
probably benign |
Het |
| Spem1 |
A |
G |
11: 69,820,927 (GRCm38) |
Y304H |
probably damaging |
Het |
| Stk38l |
C |
A |
6: 146,775,655 (GRCm38) |
Y450* |
probably null |
Het |
| Stx19 |
A |
G |
16: 62,821,974 (GRCm38) |
E51G |
probably damaging |
Het |
| Ttc41 |
C |
G |
10: 86,776,579 (GRCm38) |
Q1239E |
probably benign |
Het |
| Tuba3a |
C |
T |
6: 125,281,340 (GRCm38) |
R229H |
probably damaging |
Het |
| Utp18 |
A |
T |
11: 93,876,089 (GRCm38) |
V264D |
probably damaging |
Het |
| V1rd19 |
T |
C |
7: 24,003,289 (GRCm38) |
V60A |
probably damaging |
Het |
| Virma |
T |
G |
4: 11,494,819 (GRCm38) |
V40G |
probably damaging |
Het |
| Vmn1r160 |
C |
T |
7: 22,871,290 (GRCm38) |
Q23* |
probably null |
Het |
| Vmn2r13 |
T |
C |
5: 109,191,939 (GRCm38) |
I57V |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,061,873 (GRCm38) |
F802L |
probably damaging |
Het |
| Vmn2r61 |
A |
G |
7: 42,260,222 (GRCm38) |
D57G |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,878,131 (GRCm38) |
N260S |
probably damaging |
Het |
| Xirp1 |
C |
A |
9: 120,019,602 (GRCm38) |
A72S |
probably damaging |
Het |
| Zfp212 |
T |
C |
6: 47,929,077 (GRCm38) |
V190A |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 26,979,205 (GRCm38) |
P299L |
probably damaging |
Het |
|
| Other mutations in Gm4787 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01719:Gm4787
|
APN |
12 |
81,377,174 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
IGL01916:Gm4787
|
APN |
12 |
81,377,444 (GRCm38) |
missense |
probably benign |
0.36 |
|
IGL02193:Gm4787
|
APN |
12 |
81,378,528 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02623:Gm4787
|
APN |
12 |
81,378,728 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02681:Gm4787
|
APN |
12 |
81,378,769 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
IGL03257:Gm4787
|
APN |
12 |
81,378,052 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03410:Gm4787
|
APN |
12 |
81,379,174 (GRCm38) |
missense |
probably damaging |
1.00 |
|
F5770:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
PIT4362001:Gm4787
|
UTSW |
12 |
81,377,175 (GRCm38) |
missense |
probably benign |
|
|
R0070:Gm4787
|
UTSW |
12 |
81,379,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0128:Gm4787
|
UTSW |
12 |
81,377,747 (GRCm38) |
nonsense |
probably null |
|
|
R0220:Gm4787
|
UTSW |
12 |
81,378,648 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0304:Gm4787
|
UTSW |
12 |
81,378,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0513:Gm4787
|
UTSW |
12 |
81,378,312 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1761:Gm4787
|
UTSW |
12 |
81,377,176 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1809:Gm4787
|
UTSW |
12 |
81,378,529 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1853:Gm4787
|
UTSW |
12 |
81,378,334 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1854:Gm4787
|
UTSW |
12 |
81,378,334 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2030:Gm4787
|
UTSW |
12 |
81,378,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2063:Gm4787
|
UTSW |
12 |
81,378,920 (GRCm38) |
missense |
probably benign |
0.39 |
|
R2112:Gm4787
|
UTSW |
12 |
81,377,833 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2140:Gm4787
|
UTSW |
12 |
81,378,562 (GRCm38) |
missense |
probably benign |
0.03 |
|
R2151:Gm4787
|
UTSW |
12 |
81,377,219 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2152:Gm4787
|
UTSW |
12 |
81,377,219 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2342:Gm4787
|
UTSW |
12 |
81,378,758 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R2504:Gm4787
|
UTSW |
12 |
81,379,137 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4038:Gm4787
|
UTSW |
12 |
81,378,358 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4604:Gm4787
|
UTSW |
12 |
81,379,213 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4748:Gm4787
|
UTSW |
12 |
81,378,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4750:Gm4787
|
UTSW |
12 |
81,378,367 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4928:Gm4787
|
UTSW |
12 |
81,378,838 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4960:Gm4787
|
UTSW |
12 |
81,379,316 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4974:Gm4787
|
UTSW |
12 |
81,377,629 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5028:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5029:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5031:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5098:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5099:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5100:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5101:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5135:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5152:Gm4787
|
UTSW |
12 |
81,378,677 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5180:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5220:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5257:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5258:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5324:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5325:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5355:Gm4787
|
UTSW |
12 |
81,377,465 (GRCm38) |
nonsense |
probably null |
|
|
R5364:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5396:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5397:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5398:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5514:Gm4787
|
UTSW |
12 |
81,378,328 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R5634:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5666:Gm4787
|
UTSW |
12 |
81,378,031 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5670:Gm4787
|
UTSW |
12 |
81,378,031 (GRCm38) |
missense |
probably benign |
0.23 |
|
R5787:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5788:Gm4787
|
UTSW |
12 |
81,377,830 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6354:Gm4787
|
UTSW |
12 |
81,377,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6932:Gm4787
|
UTSW |
12 |
81,379,200 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7120:Gm4787
|
UTSW |
12 |
81,378,486 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7237:Gm4787
|
UTSW |
12 |
81,377,668 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7937:Gm4787
|
UTSW |
12 |
81,377,905 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8022:Gm4787
|
UTSW |
12 |
81,377,720 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8140:Gm4787
|
UTSW |
12 |
81,378,151 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8314:Gm4787
|
UTSW |
12 |
81,379,135 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8480:Gm4787
|
UTSW |
12 |
81,377,506 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8498:Gm4787
|
UTSW |
12 |
81,379,066 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8515:Gm4787
|
UTSW |
12 |
81,377,269 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9103:Gm4787
|
UTSW |
12 |
81,378,715 (GRCm38) |
missense |
probably benign |
0.06 |
|
R9457:Gm4787
|
UTSW |
12 |
81,379,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9557:Gm4787
|
UTSW |
12 |
81,379,300 (GRCm38) |
nonsense |
probably null |
|
|
R9608:Gm4787
|
UTSW |
12 |
81,378,312 (GRCm38) |
missense |
probably benign |
0.03 |
|
V7580:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
V7581:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
V7582:Gm4787
|
UTSW |
12 |
81,377,567 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACGCTTGACACCATCACAG -3'
(R):5'- TCAGGGCAGCTCTTGTAATAAAG -3'
Sequencing Primer
(F):5'- GCTTGACACCATCACAGTGGAG -3'
(R):5'- CAGCTCTTGTAATAAAGGAGGTTGC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation