Incidental Mutation 'R0669:Gm5592'
| ID |
62131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5592
|
| Ensembl Gene |
ENSMUSG00000072259 |
| Gene Name |
predicted gene 5592 |
| Synonyms |
|
| MMRRC Submission |
038854-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R0669 (G1)
|
| Quality Score |
148 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
40933751-40939607 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 40805254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000206490]
|
| AlphaFold |
Q3V0A6 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000108009
|
| SMART Domains |
Protein: ENSMUSP00000103644
Gene: ENSMUSG00000078737
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4629
|
425 |
524 |
5.6e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206040
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206490
|
| Meta Mutation Damage Score |
0.0999 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.8%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
T |
A |
11: 72,089,671 (GRCm39) |
H71L |
possibly damaging |
Het |
| Abcb11 |
C |
A |
2: 69,159,662 (GRCm39) |
V10L |
probably benign |
Het |
| Abcb9 |
T |
C |
5: 124,200,950 (GRCm39) |
T689A |
probably damaging |
Het |
| Adam22 |
A |
G |
5: 8,193,036 (GRCm39) |
|
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,696,614 (GRCm39) |
I181T |
probably benign |
Het |
| Adamts9 |
A |
T |
6: 92,857,938 (GRCm39) |
V231D |
probably damaging |
Het |
| Angptl6 |
C |
T |
9: 20,787,823 (GRCm39) |
V197M |
probably damaging |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,772 (GRCm39) |
V99A |
probably benign |
Het |
| Cacna2d3 |
A |
G |
14: 29,189,906 (GRCm39) |
V110A |
probably benign |
Het |
| Ccdc32 |
A |
G |
2: 118,849,648 (GRCm39) |
|
probably benign |
Het |
| Cela3b |
T |
C |
4: 137,155,841 (GRCm39) |
H22R |
probably benign |
Het |
| Cep44 |
T |
C |
8: 56,994,008 (GRCm39) |
T190A |
possibly damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,435 (GRCm39) |
C557R |
probably damaging |
Het |
| Cntd1 |
A |
G |
11: 101,178,324 (GRCm39) |
T308A |
probably damaging |
Het |
| Cutal |
T |
C |
2: 34,775,878 (GRCm39) |
|
probably benign |
Het |
| Dipk1b |
A |
G |
2: 26,524,878 (GRCm39) |
T93A |
probably benign |
Het |
| Dna2 |
A |
G |
10: 62,792,768 (GRCm39) |
D261G |
probably damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,342,911 (GRCm39) |
S1418R |
probably benign |
Het |
| Dnpep |
A |
G |
1: 75,288,422 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,875,716 (GRCm39) |
Y1075N |
probably benign |
Het |
| Eif2s1 |
C |
T |
12: 78,928,012 (GRCm39) |
|
probably benign |
Het |
| Ess2 |
T |
C |
16: 17,725,419 (GRCm39) |
Y221C |
probably damaging |
Het |
| Fer1l6 |
T |
C |
15: 58,425,573 (GRCm39) |
|
probably null |
Het |
| Ipp |
A |
G |
4: 116,395,073 (GRCm39) |
Y536C |
probably damaging |
Het |
| Krt72 |
T |
C |
15: 101,686,740 (GRCm39) |
E402G |
probably damaging |
Het |
| Lamb3 |
T |
C |
1: 193,014,638 (GRCm39) |
L599P |
probably damaging |
Het |
| Lingo2 |
T |
A |
4: 35,709,120 (GRCm39) |
T287S |
probably benign |
Het |
| Lipo3 |
T |
A |
19: 33,537,025 (GRCm39) |
T232S |
probably benign |
Het |
| Lrrc63 |
G |
A |
14: 75,363,550 (GRCm39) |
H194Y |
probably benign |
Het |
| Map3k13 |
A |
G |
16: 21,725,274 (GRCm39) |
T416A |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,875,153 (GRCm39) |
|
probably null |
Het |
| Mms22l |
T |
C |
4: 24,517,223 (GRCm39) |
V258A |
probably benign |
Het |
| Mrpl46 |
A |
T |
7: 78,432,631 (GRCm39) |
L49* |
probably null |
Het |
| Mrs2 |
T |
C |
13: 25,177,742 (GRCm39) |
T369A |
possibly damaging |
Het |
| Mtrf1 |
T |
A |
14: 79,656,708 (GRCm39) |
Y403* |
probably null |
Het |
| Muc20 |
G |
A |
16: 32,614,850 (GRCm39) |
P176S |
unknown |
Het |
| Mup21 |
C |
T |
4: 62,068,964 (GRCm39) |
C9Y |
unknown |
Het |
| Mup-ps21 |
A |
T |
4: 61,949,007 (GRCm39) |
|
noncoding transcript |
Het |
| Mybph |
T |
G |
1: 134,125,081 (GRCm39) |
|
probably null |
Het |
| Mypn |
A |
G |
10: 62,970,702 (GRCm39) |
|
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,058,431 (GRCm39) |
S124P |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,962,241 (GRCm39) |
D556G |
probably damaging |
Het |
| Numa1 |
A |
C |
7: 101,648,884 (GRCm39) |
I872L |
probably benign |
Het |
| Or14c40 |
A |
G |
7: 86,313,544 (GRCm39) |
I225V |
possibly damaging |
Het |
| Or2a7 |
C |
T |
6: 43,150,938 (GRCm39) |
T6I |
probably benign |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,272 (GRCm39) |
M108L |
probably benign |
Het |
| Or5p52 |
T |
A |
7: 107,502,446 (GRCm39) |
I174K |
probably damaging |
Het |
| Pcdhb9 |
A |
T |
18: 37,535,308 (GRCm39) |
N434I |
probably damaging |
Het |
| Pigq |
A |
T |
17: 26,155,736 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
T |
G |
1: 194,471,145 (GRCm39) |
V972G |
probably damaging |
Het |
| Psma3 |
G |
A |
12: 71,035,269 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,703,975 (GRCm39) |
T1336A |
probably benign |
Het |
| Rdh7 |
T |
C |
10: 127,720,598 (GRCm39) |
D258G |
probably benign |
Het |
| Serpinb6c |
A |
G |
13: 34,083,252 (GRCm39) |
I54T |
probably damaging |
Het |
| Sh2d7 |
A |
T |
9: 54,448,633 (GRCm39) |
Y218F |
probably benign |
Het |
| Shfl |
AGAGGAGGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGAGGAGGA |
9: 20,785,013 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
A |
T |
16: 33,371,274 (GRCm39) |
I137F |
possibly damaging |
Het |
| Smarca2 |
T |
C |
19: 26,683,600 (GRCm39) |
V1153A |
possibly damaging |
Het |
| Smc6 |
A |
T |
12: 11,339,165 (GRCm39) |
I334L |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,230,380 (GRCm39) |
|
probably benign |
Het |
| Taar8c |
A |
G |
10: 23,977,401 (GRCm39) |
L137P |
probably damaging |
Het |
| Tcam1 |
A |
T |
11: 106,176,252 (GRCm39) |
D326V |
possibly damaging |
Het |
| Telo2 |
A |
T |
17: 25,324,797 (GRCm39) |
V461D |
probably benign |
Het |
| Tmprss7 |
A |
T |
16: 45,498,325 (GRCm39) |
C351* |
probably null |
Het |
| Trim66 |
T |
A |
7: 109,054,199 (GRCm39) |
|
probably benign |
Het |
| Ube2d1 |
G |
T |
10: 71,097,940 (GRCm39) |
H32N |
probably benign |
Het |
| Ubp1 |
T |
C |
9: 113,793,736 (GRCm39) |
|
probably benign |
Het |
| Vma21 |
C |
T |
X: 70,863,763 (GRCm39) |
T81M |
probably damaging |
Het |
| Vmn1r113 |
T |
C |
7: 20,521,345 (GRCm39) |
S46P |
probably benign |
Het |
| Wars1 |
T |
C |
12: 108,831,944 (GRCm39) |
S374G |
probably benign |
Het |
| Wbp1 |
T |
C |
6: 83,096,326 (GRCm39) |
D277G |
possibly damaging |
Het |
| Zfp939 |
C |
A |
7: 39,123,209 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Gm5592 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Gm5592
|
APN |
7 |
40,938,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01472:Gm5592
|
APN |
7 |
40,935,498 (GRCm39) |
splice site |
probably benign |
|
|
IGL01718:Gm5592
|
APN |
7 |
40,938,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01981:Gm5592
|
APN |
7 |
40,935,795 (GRCm39) |
nonsense |
probably null |
|
|
IGL02318:Gm5592
|
APN |
7 |
40,936,212 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02346:Gm5592
|
APN |
7 |
40,938,889 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02904:Gm5592
|
APN |
7 |
40,937,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I1329:Gm5592
|
UTSW |
7 |
40,935,778 (GRCm39) |
nonsense |
probably null |
|
|
R0465:Gm5592
|
UTSW |
7 |
40,805,481 (GRCm39) |
intron |
probably benign |
|
|
R0675:Gm5592
|
UTSW |
7 |
40,938,811 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1381:Gm5592
|
UTSW |
7 |
40,935,596 (GRCm39) |
missense |
probably benign |
|
|
R1731:Gm5592
|
UTSW |
7 |
40,937,837 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3149:Gm5592
|
UTSW |
7 |
40,937,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3150:Gm5592
|
UTSW |
7 |
40,937,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3176:Gm5592
|
UTSW |
7 |
40,937,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3177:Gm5592
|
UTSW |
7 |
40,937,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3276:Gm5592
|
UTSW |
7 |
40,937,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3277:Gm5592
|
UTSW |
7 |
40,937,804 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3623:Gm5592
|
UTSW |
7 |
40,807,052 (GRCm39) |
intron |
probably benign |
|
|
R3797:Gm5592
|
UTSW |
7 |
40,807,259 (GRCm39) |
intron |
probably benign |
|
|
R3854:Gm5592
|
UTSW |
7 |
40,807,259 (GRCm39) |
intron |
probably benign |
|
|
R3856:Gm5592
|
UTSW |
7 |
40,807,259 (GRCm39) |
intron |
probably benign |
|
|
R4009:Gm5592
|
UTSW |
7 |
40,938,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4010:Gm5592
|
UTSW |
7 |
40,936,052 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4011:Gm5592
|
UTSW |
7 |
40,938,934 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4127:Gm5592
|
UTSW |
7 |
40,938,491 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4162:Gm5592
|
UTSW |
7 |
40,867,202 (GRCm39) |
intron |
probably benign |
|
|
R4289:Gm5592
|
UTSW |
7 |
40,808,336 (GRCm39) |
intron |
probably benign |
|
|
R4304:Gm5592
|
UTSW |
7 |
40,935,686 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4332:Gm5592
|
UTSW |
7 |
40,865,542 (GRCm39) |
intron |
probably benign |
|
|
R4408:Gm5592
|
UTSW |
7 |
40,935,872 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4572:Gm5592
|
UTSW |
7 |
40,865,583 (GRCm39) |
intron |
probably benign |
|
|
R4764:Gm5592
|
UTSW |
7 |
40,865,542 (GRCm39) |
intron |
probably benign |
|
|
R4822:Gm5592
|
UTSW |
7 |
40,805,314 (GRCm39) |
intron |
probably benign |
|
|
R4836:Gm5592
|
UTSW |
7 |
40,864,958 (GRCm39) |
intron |
probably benign |
|
|
R4854:Gm5592
|
UTSW |
7 |
40,866,895 (GRCm39) |
intron |
probably benign |
|
|
R5032:Gm5592
|
UTSW |
7 |
40,939,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5075:Gm5592
|
UTSW |
7 |
40,808,387 (GRCm39) |
intron |
probably benign |
|
|
R5369:Gm5592
|
UTSW |
7 |
40,867,635 (GRCm39) |
intron |
probably benign |
|
|
R5424:Gm5592
|
UTSW |
7 |
40,805,017 (GRCm39) |
intron |
probably benign |
|
|
R5700:Gm5592
|
UTSW |
7 |
40,808,003 (GRCm39) |
intron |
probably benign |
|
|
R5741:Gm5592
|
UTSW |
7 |
40,938,625 (GRCm39) |
missense |
probably benign |
|
|
R5802:Gm5592
|
UTSW |
7 |
40,868,529 (GRCm39) |
intron |
probably benign |
|
|
R5945:Gm5592
|
UTSW |
7 |
40,865,036 (GRCm39) |
intron |
probably benign |
|
|
R6117:Gm5592
|
UTSW |
7 |
40,937,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6324:Gm5592
|
UTSW |
7 |
40,935,959 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6449:Gm5592
|
UTSW |
7 |
40,938,010 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6571:Gm5592
|
UTSW |
7 |
40,937,999 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6776:Gm5592
|
UTSW |
7 |
40,939,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7595:Gm5592
|
UTSW |
7 |
40,935,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7658:Gm5592
|
UTSW |
7 |
40,938,134 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7699:Gm5592
|
UTSW |
7 |
40,935,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7700:Gm5592
|
UTSW |
7 |
40,935,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7774:Gm5592
|
UTSW |
7 |
40,939,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7788:Gm5592
|
UTSW |
7 |
40,936,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7890:Gm5592
|
UTSW |
7 |
40,936,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8070:Gm5592
|
UTSW |
7 |
40,935,887 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8417:Gm5592
|
UTSW |
7 |
40,937,975 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8866:Gm5592
|
UTSW |
7 |
40,938,246 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9044:Gm5592
|
UTSW |
7 |
40,938,274 (GRCm39) |
missense |
probably benign |
0.25 |
|
R9057:Gm5592
|
UTSW |
7 |
40,938,887 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9258:Gm5592
|
UTSW |
7 |
40,938,407 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9451:Gm5592
|
UTSW |
7 |
40,935,876 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9760:Gm5592
|
UTSW |
7 |
40,939,234 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
X0021:Gm5592
|
UTSW |
7 |
40,937,932 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Gm5592
|
UTSW |
7 |
40,938,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Gm5592
|
UTSW |
7 |
40,935,743 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
Z1176:Gm5592
|
UTSW |
7 |
40,935,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATGGCTTCTACCATCAGCATC -3'
(R):5'- ATAGTAATAGACCTGGCTGCCCTCC -3'
Sequencing Primer
(F):5'- ATCAGCATCCAGCACTTCTC -3'
(R):5'- TGCCCTCCTGGTAGGAAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation