Incidental Mutation 'PIT4362001:Gm4787'
| ID |
554646 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm4787
|
| Ensembl Gene |
ENSMUSG00000072974 |
| Gene Name |
predicted gene 4787 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
PIT4362001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
81423765-81426238 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 81423949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 736
(L736F)
|
| 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: L736F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: L736F
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 91.2%
- 10x: 87.0%
- 20x: 78.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
C |
17: 31,283,398 (GRCm39) |
S28P |
possibly damaging |
Het |
| Akr1c14 |
T |
C |
13: 4,129,100 (GRCm39) |
V165A |
probably damaging |
Het |
| Aox1 |
A |
T |
1: 58,321,839 (GRCm39) |
T44S |
probably damaging |
Het |
| Arhgap29 |
T |
A |
3: 121,796,861 (GRCm39) |
N482K |
probably benign |
Het |
| Arhgef38 |
T |
A |
3: 132,866,591 (GRCm39) |
D182V |
|
Het |
| Atad5 |
C |
T |
11: 80,002,393 (GRCm39) |
H1062Y |
probably benign |
Het |
| Atp6v0b |
A |
G |
4: 117,742,453 (GRCm39) |
S147P |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,959,905 (GRCm39) |
Y299* |
probably null |
Het |
| Ccdc28b |
T |
C |
4: 129,514,818 (GRCm39) |
N97S |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,301,237 (GRCm39) |
V479A |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,087,022 (GRCm39) |
|
probably null |
Het |
| Cmtr2 |
G |
A |
8: 110,948,968 (GRCm39) |
G426D |
probably damaging |
Het |
| Cog4 |
G |
A |
8: 111,593,304 (GRCm39) |
D472N |
probably damaging |
Het |
| Creb3 |
T |
A |
4: 43,565,472 (GRCm39) |
L193* |
probably null |
Het |
| Cxcr6 |
A |
T |
9: 123,639,526 (GRCm39) |
I183F |
probably benign |
Het |
| Dbf4 |
A |
G |
5: 8,453,664 (GRCm39) |
F253L |
probably benign |
Het |
| Dcaf8 |
T |
C |
1: 172,000,364 (GRCm39) |
V174A |
probably damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,225,779 (GRCm39) |
Y526C |
probably damaging |
Het |
| Dnal4 |
A |
G |
15: 79,647,766 (GRCm39) |
V33A |
probably benign |
Het |
| Egfl7 |
C |
T |
2: 26,481,052 (GRCm39) |
P188L |
probably benign |
Het |
| Ephb3 |
A |
G |
16: 21,039,607 (GRCm39) |
E707G |
probably damaging |
Het |
| Epn3 |
C |
T |
11: 94,387,349 (GRCm39) |
R7H |
probably damaging |
Het |
| Fbp1 |
T |
A |
13: 63,015,194 (GRCm39) |
I262F |
probably damaging |
Het |
| Fgfbp3 |
G |
A |
19: 36,896,088 (GRCm39) |
R177* |
probably null |
Het |
| Gask1b |
C |
A |
3: 79,794,246 (GRCm39) |
S238Y |
possibly damaging |
Het |
| Gbp5 |
T |
C |
3: 142,206,471 (GRCm39) |
S52P |
probably damaging |
Het |
| Glb1l2 |
A |
T |
9: 26,685,277 (GRCm39) |
S282T |
probably benign |
Het |
| Glg1 |
A |
T |
8: 111,985,431 (GRCm39) |
V133E |
possibly damaging |
Het |
| Gm5565 |
A |
T |
5: 146,095,109 (GRCm39) |
S212R |
probably benign |
Het |
| Grin2c |
T |
C |
11: 115,140,459 (GRCm39) |
T1220A |
probably benign |
Het |
| Grp |
T |
G |
18: 66,019,297 (GRCm39) |
S133A |
probably benign |
Het |
| Gstp2 |
C |
A |
19: 4,090,713 (GRCm39) |
D147Y |
possibly damaging |
Het |
| Igkv14-130 |
T |
C |
6: 67,768,392 (GRCm39) |
F84L |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,475,220 (GRCm39) |
R944G |
probably benign |
Het |
| Lama2 |
A |
T |
10: 27,245,132 (GRCm39) |
N216K |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,367,882 (GRCm39) |
D210V |
probably damaging |
Het |
| Lrrc2 |
A |
T |
9: 110,791,608 (GRCm39) |
Q120L |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,907,055 (GRCm39) |
I1555T |
probably benign |
Het |
| Map2 |
G |
A |
1: 66,451,677 (GRCm39) |
G189D |
probably benign |
Het |
| Mdc1 |
A |
G |
17: 36,155,361 (GRCm39) |
E12G |
possibly damaging |
Het |
| Mdga2 |
T |
C |
12: 66,844,542 (GRCm39) |
D152G |
possibly damaging |
Het |
| Med23 |
A |
G |
10: 24,750,469 (GRCm39) |
M99V |
probably benign |
Het |
| Mutyh |
G |
A |
4: 116,674,267 (GRCm39) |
V273M |
probably damaging |
Het |
| Neurod2 |
T |
A |
11: 98,218,708 (GRCm39) |
Y152F |
probably damaging |
Het |
| Or5d3 |
C |
T |
2: 88,174,357 (GRCm39) |
A247T |
probably benign |
Het |
| Or5g25 |
A |
C |
2: 85,478,068 (GRCm39) |
L199R |
probably damaging |
Het |
| Or8c20 |
G |
T |
9: 38,260,494 (GRCm39) |
L32F |
probably benign |
Het |
| Pcdh20 |
G |
C |
14: 88,704,462 (GRCm39) |
P946R |
probably damaging |
Het |
| Pde6b |
T |
C |
5: 108,571,451 (GRCm39) |
|
probably null |
Het |
| Pdzrn4 |
A |
T |
15: 92,667,762 (GRCm39) |
D638V |
possibly damaging |
Het |
| Polr1b |
A |
G |
2: 128,951,212 (GRCm39) |
D275G |
possibly damaging |
Het |
| Rnf157 |
T |
A |
11: 116,251,143 (GRCm39) |
D127V |
probably damaging |
Het |
| Rspo4 |
T |
A |
2: 151,709,803 (GRCm39) |
C69* |
probably null |
Het |
| Scara3 |
T |
C |
14: 66,173,851 (GRCm39) |
T63A |
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,514,182 (GRCm39) |
E289K |
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,295,786 (GRCm39) |
T163A |
probably benign |
Het |
| Slc2a10 |
T |
A |
2: 165,358,213 (GRCm39) |
F446Y |
probably damaging |
Het |
| Snapc1 |
C |
T |
12: 74,029,269 (GRCm39) |
R351C |
probably damaging |
Het |
| Snx6 |
A |
G |
12: 54,814,815 (GRCm39) |
Y169H |
possibly damaging |
Het |
| Stab2 |
A |
T |
10: 86,697,299 (GRCm39) |
C1996* |
probably null |
Het |
| Steap4 |
A |
G |
5: 8,030,337 (GRCm39) |
T398A |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,103,510 (GRCm39) |
L260Q |
probably benign |
Het |
| Tspan12 |
A |
T |
6: 21,835,463 (GRCm39) |
V70D |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,569,362 (GRCm39) |
A27177V |
probably damaging |
Het |
| Ube3a |
T |
C |
7: 58,925,870 (GRCm39) |
V237A |
possibly damaging |
Het |
| Vil1 |
G |
A |
1: 74,460,542 (GRCm39) |
R233H |
probably damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,433,088 (GRCm39) |
T716A |
probably benign |
Het |
| Zbp1 |
A |
G |
2: 173,058,783 (GRCm39) |
I18T |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,807,524 (GRCm39) |
V1845A |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,579,393 (GRCm39) |
N573K |
possibly damaging |
Het |
| Zfp64 |
T |
C |
2: 168,767,735 (GRCm39) |
T626A |
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 |
|
|
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 |
|
R6354:Gm4787
|
UTSW |
12 |
81,424,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GAAACACAATGCTAATTCCCAGTG -3'
(R):5'- TCACTGTGTTCAAGGTTGGC -3'
Sequencing Primer
(F):5'- CATGACTGATGGGAGACA -3'
(R):5'- TTGGCAACCACCAAAATGTTTAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation