Incidental Mutation 'R7788:Gm5592'
ID |
599666 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm5592
|
Ensembl Gene |
ENSMUSG00000072259 |
Gene Name |
predicted gene 5592 |
Synonyms |
|
MMRRC Submission |
045844-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.058)
|
Stock # |
R7788 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
40933751-40939607 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 40936118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 207
(S207P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000094809
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097044]
[ENSMUST00000206490]
|
AlphaFold |
Q3V0A6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097044
AA Change: S207P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000094809 Gene: ENSMUSG00000072259 AA Change: S207P
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 |
probably benign
Transcript: ENSMUST00000206490
AA Change: S207P
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
99% (68/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam7 |
A |
T |
14: 68,750,094 (GRCm39) |
V442E |
possibly damaging |
Het |
Adgrv1 |
A |
T |
13: 81,721,433 (GRCm39) |
V715D |
probably damaging |
Het |
Aldh1l1 |
A |
C |
6: 90,546,894 (GRCm39) |
D399A |
probably benign |
Het |
Ankrd23 |
T |
C |
1: 36,570,808 (GRCm39) |
N274S |
probably damaging |
Het |
Aopep |
A |
T |
13: 63,304,407 (GRCm39) |
H473L |
possibly damaging |
Het |
Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
Arpc4 |
A |
T |
6: 113,362,565 (GRCm39) |
M149L |
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,191,759 (GRCm39) |
T1407A |
possibly damaging |
Het |
Calml3 |
A |
T |
13: 3,854,121 (GRCm39) |
I28N |
probably damaging |
Het |
Cdhr3 |
A |
G |
12: 33,110,319 (GRCm39) |
S322P |
probably damaging |
Het |
Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
Cntn5 |
A |
G |
9: 9,704,934 (GRCm39) |
S622P |
probably benign |
Het |
Col22a1 |
A |
G |
15: 71,824,166 (GRCm39) |
|
probably null |
Het |
Csf2rb2 |
A |
T |
15: 78,177,041 (GRCm39) |
I143N |
probably benign |
Het |
Cwh43 |
T |
C |
5: 73,572,377 (GRCm39) |
L205P |
probably damaging |
Het |
Dennd5b |
T |
C |
6: 148,970,064 (GRCm39) |
T52A |
probably benign |
Het |
Dhx40 |
A |
G |
11: 86,666,502 (GRCm39) |
I597T |
possibly damaging |
Het |
Dnajc21 |
A |
G |
15: 10,460,133 (GRCm39) |
L268P |
probably damaging |
Het |
Dzip1 |
A |
T |
14: 119,120,805 (GRCm39) |
D717E |
probably benign |
Het |
Elmo3 |
A |
G |
8: 106,034,876 (GRCm39) |
N389D |
probably damaging |
Het |
Evi2a |
T |
C |
11: 79,418,768 (GRCm39) |
E14G |
unknown |
Het |
Fam149a |
T |
A |
8: 45,834,554 (GRCm39) |
R82W |
probably damaging |
Het |
Farp1 |
A |
T |
14: 121,513,665 (GRCm39) |
E820V |
probably benign |
Het |
Fgd5 |
T |
A |
6: 91,965,440 (GRCm39) |
S400T |
possibly damaging |
Het |
Flnc |
G |
A |
6: 29,456,443 (GRCm39) |
V2214I |
possibly damaging |
Het |
Galnt4 |
C |
A |
10: 98,944,975 (GRCm39) |
N233K |
possibly damaging |
Het |
Gbp5 |
A |
G |
3: 142,208,841 (GRCm39) |
Y128C |
probably damaging |
Het |
Gm4871 |
G |
A |
5: 144,969,420 (GRCm39) |
T33I |
probably benign |
Het |
Gtf2ird1 |
A |
T |
5: 134,445,985 (GRCm39) |
C15* |
probably null |
Het |
Ido2 |
T |
A |
8: 25,037,242 (GRCm39) |
I155F |
probably damaging |
Het |
Ifi27l2b |
A |
T |
12: 103,423,268 (GRCm39) |
|
probably null |
Het |
Il15ra |
C |
T |
2: 11,728,404 (GRCm39) |
T49I |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,337,571 (GRCm39) |
C2460* |
probably null |
Het |
Kcnj11 |
T |
C |
7: 45,749,179 (GRCm39) |
N48S |
probably damaging |
Het |
Lmo7 |
A |
C |
14: 102,136,012 (GRCm39) |
N695T |
possibly damaging |
Het |
Mmp15 |
C |
A |
8: 96,094,776 (GRCm39) |
H217N |
probably damaging |
Het |
Mtcl2 |
C |
T |
2: 156,869,504 (GRCm39) |
A1044T |
probably benign |
Het |
Muc21 |
A |
T |
17: 35,929,798 (GRCm39) |
S1463T |
unknown |
Het |
Mug1 |
C |
A |
6: 121,838,179 (GRCm39) |
H470N |
possibly damaging |
Het |
Myo5c |
A |
T |
9: 75,186,627 (GRCm39) |
D991V |
probably damaging |
Het |
Nfkbid |
T |
A |
7: 30,126,603 (GRCm39) |
N396K |
probably damaging |
Het |
Oas1c |
A |
G |
5: 120,939,107 (GRCm39) |
F361L |
probably benign |
Het |
Or10aa1 |
A |
G |
1: 173,869,650 (GRCm39) |
I45V |
probably benign |
Het |
Or1e1b-ps1 |
A |
T |
11: 73,845,948 (GRCm39) |
Y144F |
probably benign |
Het |
Osbpl9 |
T |
C |
4: 108,919,691 (GRCm39) |
K606E |
probably benign |
Het |
Pkp2 |
C |
A |
16: 16,043,272 (GRCm39) |
L111I |
probably benign |
Het |
Pogz |
A |
G |
3: 94,782,544 (GRCm39) |
Y635C |
probably damaging |
Het |
Prdx2 |
A |
G |
8: 85,698,303 (GRCm39) |
T165A |
probably benign |
Het |
Ptcd3 |
T |
C |
6: 71,862,541 (GRCm39) |
I465V |
probably benign |
Het |
Ptprd |
G |
A |
4: 75,916,841 (GRCm39) |
T770I |
probably damaging |
Het |
Rapgef6 |
A |
G |
11: 54,585,225 (GRCm39) |
Y1541C |
probably damaging |
Het |
Rilpl1 |
A |
T |
5: 124,634,200 (GRCm39) |
|
probably null |
Het |
Rimbp3 |
T |
A |
16: 17,030,568 (GRCm39) |
Y1331N |
probably benign |
Het |
Sav1 |
T |
C |
12: 70,030,995 (GRCm39) |
R176G |
probably damaging |
Het |
Sirt5 |
A |
G |
13: 43,536,623 (GRCm39) |
H219R |
probably benign |
Het |
Skint5 |
T |
G |
4: 113,403,715 (GRCm39) |
D1169A |
unknown |
Het |
Slfn9 |
G |
T |
11: 82,873,467 (GRCm39) |
Q479K |
possibly damaging |
Het |
Spata31f1e |
A |
T |
4: 42,793,546 (GRCm39) |
H195Q |
possibly damaging |
Het |
Susd4 |
T |
C |
1: 182,722,767 (GRCm39) |
I483T |
possibly damaging |
Het |
Tmem156 |
C |
T |
5: 65,232,912 (GRCm39) |
V217I |
possibly damaging |
Het |
Tmem79 |
A |
G |
3: 88,239,949 (GRCm39) |
Y254H |
probably benign |
Het |
Tmprss2 |
T |
A |
16: 97,377,429 (GRCm39) |
K223* |
probably null |
Het |
Trav3-1 |
T |
C |
14: 52,818,581 (GRCm39) |
V85A |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,716,100 (GRCm39) |
|
probably null |
Het |
Vmn2r22 |
T |
C |
6: 123,614,559 (GRCm39) |
I344V |
not run |
Het |
Vps13c |
A |
T |
9: 67,847,765 (GRCm39) |
M2176L |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 101,996,223 (GRCm39) |
V3213D |
probably damaging |
Het |
Zbtb21 |
G |
A |
16: 97,752,654 (GRCm39) |
T543M |
possibly damaging |
Het |
Zc3hav1 |
A |
T |
6: 38,309,691 (GRCm39) |
V377D |
probably benign |
Het |
Zswim3 |
T |
C |
2: 164,661,699 (GRCm39) |
C60R |
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 |
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'- GGCTGTGACAAACCAGAGTG -3'
(R):5'- GAGTGCTGATCCCACTACTTC -3'
Sequencing Primer
(F):5'- AGATCCCAATGTCATAGTTCCTTTTC -3'
(R):5'- ACTACTTCCCTCCTGGATCTGTAC -3'
|
Posted On |
2019-11-26 |