Incidental Mutation 'R9760:Gm5592'
| ID |
732947 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5592
|
| Ensembl Gene |
ENSMUSG00000072259 |
| Gene Name |
predicted gene 5592 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R9760 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
40933751-40939607 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 40939234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 839
(I839F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094809
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097044]
[ENSMUST00000206490]
|
| AlphaFold |
Q3V0A6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097044
AA Change: I839F
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: I839F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4629
|
435 |
580 |
6.1e-60 |
PFAM |
|
low complexity region
|
607 |
612 |
N/A |
INTRINSIC |
|
low complexity region
|
708 |
725 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000206490
AA Change: I839F
PolyPhen 2
Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
C |
16: 8,399,794 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
G |
A |
1: 171,086,334 (GRCm39) |
D709N |
probably benign |
Het |
| Arhgef12 |
G |
T |
9: 42,903,318 (GRCm39) |
D745E |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,818,473 (GRCm39) |
K883E |
probably benign |
Het |
| Cfdp1 |
T |
C |
8: 112,495,415 (GRCm39) |
I268V |
probably benign |
Het |
| Cgnl1 |
G |
T |
9: 71,552,853 (GRCm39) |
S1037* |
probably null |
Het |
| Clca3b |
T |
C |
3: 144,552,610 (GRCm39) |
N142S |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,659,253 (GRCm39) |
I564N |
probably damaging |
Het |
| Coq4 |
G |
T |
2: 29,678,482 (GRCm39) |
R36L |
probably benign |
Het |
| Dact3 |
G |
A |
7: 16,620,131 (GRCm39) |
S542N |
unknown |
Het |
| Dcaf1 |
A |
G |
9: 106,751,466 (GRCm39) |
D1480G |
unknown |
Het |
| Dcdc2a |
C |
T |
13: 25,389,443 (GRCm39) |
T457I |
probably damaging |
Het |
| Ddi2 |
A |
G |
4: 141,411,196 (GRCm39) |
V572A |
probably damaging |
Het |
| Ddx54 |
C |
T |
5: 120,761,672 (GRCm39) |
R483C |
probably benign |
Het |
| Dennd5b |
G |
A |
6: 148,969,997 (GRCm39) |
S152F |
probably benign |
Het |
| Efcab14 |
C |
T |
4: 115,616,072 (GRCm39) |
H252Y |
probably benign |
Het |
| Efhb |
A |
T |
17: 53,770,298 (GRCm39) |
F4I |
probably damaging |
Het |
| Esrrg |
A |
G |
1: 187,775,569 (GRCm39) |
D32G |
probably benign |
Het |
| Far2 |
C |
A |
6: 148,060,448 (GRCm39) |
A267E |
probably damaging |
Het |
| Fhip2b |
A |
C |
14: 70,827,621 (GRCm39) |
V158G |
possibly damaging |
Het |
| Flnb |
T |
C |
14: 7,929,846 (GRCm38) |
I1992T |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,944,527 (GRCm39) |
S169G |
|
Het |
| Galnt10 |
G |
A |
11: 57,656,514 (GRCm39) |
V233I |
probably benign |
Het |
| Gbf1 |
C |
A |
19: 46,244,137 (GRCm39) |
N210K |
probably benign |
Het |
| Gbp3 |
T |
G |
3: 142,276,283 (GRCm39) |
S460A |
probably benign |
Het |
| Gm12185 |
T |
A |
11: 48,806,168 (GRCm39) |
H341L |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,267,310 (GRCm39) |
D467G |
probably damaging |
Het |
| Grin3a |
A |
T |
4: 49,714,213 (GRCm39) |
M844K |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,019,020 (GRCm39) |
D368G |
probably benign |
Het |
| Herc2 |
G |
C |
7: 55,813,659 (GRCm39) |
|
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,184,572 (GRCm39) |
Q302R |
possibly damaging |
Het |
| Ins2 |
T |
A |
7: 142,233,185 (GRCm39) |
H29L |
probably damaging |
Het |
| Ipo13 |
T |
A |
4: 117,762,778 (GRCm39) |
Y275F |
probably benign |
Het |
| Kcnj15 |
T |
A |
16: 95,096,483 (GRCm39) |
M35K |
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,076,421 (GRCm39) |
V321M |
probably damaging |
Het |
| Lcmt1 |
T |
A |
7: 123,029,375 (GRCm39) |
Y332* |
probably null |
Het |
| Malt1 |
A |
G |
18: 65,581,283 (GRCm39) |
Q237R |
probably benign |
Het |
| Micall1 |
G |
A |
15: 79,005,032 (GRCm39) |
C168Y |
unknown |
Het |
| Muc5ac |
A |
G |
7: 141,360,985 (GRCm39) |
K1432R |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,551,662 (GRCm39) |
S510P |
probably benign |
Het |
| Nub1 |
T |
C |
5: 24,897,965 (GRCm39) |
L117P |
possibly damaging |
Het |
| Or10al3 |
T |
C |
17: 38,012,434 (GRCm39) |
L291P |
probably damaging |
Het |
| Or5af1 |
A |
G |
11: 58,722,852 (GRCm39) |
R291G |
probably damaging |
Het |
| Or8g24 |
A |
T |
9: 38,989,271 (GRCm39) |
F257I |
possibly damaging |
Het |
| Pkdrej |
T |
C |
15: 85,705,268 (GRCm39) |
K223E |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,657,044 (GRCm39) |
Y4046* |
probably null |
Het |
| Prpf8 |
A |
G |
11: 75,394,257 (GRCm39) |
N1767D |
probably benign |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| R3hdm2 |
G |
T |
10: 127,280,182 (GRCm39) |
M18I |
unknown |
Het |
| Rab35 |
C |
A |
5: 115,778,224 (GRCm39) |
D63E |
probably damaging |
Het |
| Ribc2 |
T |
A |
15: 85,027,568 (GRCm39) |
Y350N |
probably benign |
Het |
| Sec63 |
A |
G |
10: 42,704,944 (GRCm39) |
I733V |
probably benign |
Het |
| Slc23a3 |
ATT |
ATTT |
1: 75,109,925 (GRCm39) |
|
probably null |
Het |
| Slc38a4 |
T |
C |
15: 96,896,332 (GRCm39) |
K512E |
probably damaging |
Het |
| Stk35 |
G |
A |
2: 129,642,605 (GRCm39) |
V49I |
probably benign |
Het |
| Tango6 |
A |
G |
8: 107,576,911 (GRCm39) |
E1055G |
probably damaging |
Het |
| Tas2r140 |
A |
G |
6: 40,469,036 (GRCm39) |
I289V |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,667,101 (GRCm39) |
V541A |
probably benign |
Het |
| Tll2 |
C |
T |
19: 41,119,084 (GRCm39) |
V215M |
probably damaging |
Het |
| Tmem30a |
A |
T |
9: 79,687,874 (GRCm39) |
N98K |
probably benign |
Het |
| Trav9n-4 |
C |
A |
14: 53,532,290 (GRCm39) |
A48E |
probably benign |
Het |
| Vinac1 |
A |
T |
2: 128,880,499 (GRCm39) |
S476T |
|
Het |
| Vmn1r192 |
A |
G |
13: 22,372,010 (GRCm39) |
F70S |
probably damaging |
Het |
| Wdr89 |
A |
G |
12: 75,680,026 (GRCm39) |
V76A |
probably damaging |
Het |
| Zfp229 |
A |
T |
17: 21,965,275 (GRCm39) |
T502S |
probably damaging |
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 |
|
|
R0669:Gm5592
|
UTSW |
7 |
40,805,254 (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 |
|
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'- TGCCAGGAACAAGGTACCATC -3'
(R):5'- CCTGCACATGTACTTGTGTATATAC -3'
Sequencing Primer
(F):5'- CCAAATATCTGCTGCATGACTTCAG -3'
(R):5'- CAATGATCTGGCAAGCTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation