Incidental Mutation 'R6776:Gm5592'
| ID |
531292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm5592
|
| Ensembl Gene |
ENSMUSG00000072259 |
| Gene Name |
predicted gene 5592 |
| Synonyms |
|
| MMRRC Submission |
044892-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R6776 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
40933751-40939607 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 40939153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Alanine
at position 812
(P812A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097044]
[ENSMUST00000206490]
|
| AlphaFold |
Q3V0A6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097044
AA Change: P812A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094809
Gene: ENSMUSG00000072259
AA Change: P812A
| 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 damaging
Transcript: ENSMUST00000206490
AA Change: P812A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
A |
G |
8: 10,038,075 (GRCm39) |
H224R |
probably benign |
Het |
| Anapc10 |
T |
C |
8: 80,446,374 (GRCm39) |
F68S |
probably damaging |
Het |
| Arid2 |
A |
G |
15: 96,268,830 (GRCm39) |
N981S |
probably benign |
Het |
| Bmerb1 |
T |
A |
16: 13,804,670 (GRCm39) |
S6T |
possibly damaging |
Het |
| Cfap73 |
A |
G |
5: 120,772,276 (GRCm39) |
F9L |
probably damaging |
Het |
| Chd3 |
A |
C |
11: 69,245,296 (GRCm39) |
L1141V |
probably damaging |
Het |
| Daam1 |
C |
T |
12: 72,036,582 (GRCm39) |
L1052F |
possibly damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,027,041 (GRCm39) |
R2050C |
probably damaging |
Het |
| Dpp10 |
G |
A |
1: 123,295,385 (GRCm39) |
Q552* |
probably null |
Het |
| Dysf |
A |
G |
6: 84,041,876 (GRCm39) |
D160G |
possibly damaging |
Het |
| Ecrg4 |
C |
A |
1: 43,781,551 (GRCm39) |
N144K |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,804,318 (GRCm39) |
I338M |
probably damaging |
Het |
| Foxp1 |
TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG |
6: 99,052,926 (GRCm39) |
|
probably benign |
Het |
| Ftcd |
T |
C |
10: 76,425,073 (GRCm39) |
I518T |
probably benign |
Het |
| Gapdh |
A |
G |
6: 125,139,236 (GRCm39) |
S248P |
probably damaging |
Het |
| Grik2 |
G |
A |
10: 49,232,085 (GRCm39) |
L482F |
probably damaging |
Het |
| Gzmg |
C |
T |
14: 56,394,288 (GRCm39) |
G202D |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,491,574 (GRCm39) |
A3671T |
possibly damaging |
Het |
| Hexa |
G |
T |
9: 59,465,355 (GRCm39) |
W203C |
probably damaging |
Het |
| Igdcc4 |
A |
T |
9: 65,042,700 (GRCm39) |
T1217S |
probably benign |
Het |
| Ipo7 |
A |
G |
7: 109,646,272 (GRCm39) |
D557G |
probably damaging |
Het |
| Irx3 |
T |
A |
8: 92,526,463 (GRCm39) |
T414S |
probably benign |
Het |
| Jakmip1 |
G |
A |
5: 37,344,498 (GRCm39) |
E1313K |
probably damaging |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,248 (GRCm39) |
D194G |
probably damaging |
Het |
| Klk6 |
T |
C |
7: 43,476,298 (GRCm39) |
L46P |
probably damaging |
Het |
| Krt86 |
T |
C |
15: 101,374,817 (GRCm39) |
I329T |
probably benign |
Het |
| Mroh5 |
A |
G |
15: 73,661,817 (GRCm39) |
|
probably null |
Het |
| Mtrf1 |
T |
C |
14: 79,650,521 (GRCm39) |
V323A |
probably damaging |
Het |
| Oas3 |
A |
T |
5: 120,896,939 (GRCm39) |
I894N |
probably damaging |
Het |
| Oplah |
C |
T |
15: 76,185,053 (GRCm39) |
V887I |
possibly damaging |
Het |
| Pag1 |
T |
C |
3: 9,764,848 (GRCm39) |
T102A |
probably benign |
Het |
| Pcnx1 |
C |
T |
12: 82,009,496 (GRCm39) |
A1181V |
possibly damaging |
Het |
| Pkdrej |
G |
T |
15: 85,701,510 (GRCm39) |
Y1475* |
probably null |
Het |
| Pla2g5 |
A |
G |
4: 138,527,964 (GRCm39) |
S101P |
probably benign |
Het |
| Plekha4 |
C |
A |
7: 45,184,241 (GRCm39) |
A76E |
probably damaging |
Het |
| Plk2 |
T |
C |
13: 110,536,325 (GRCm39) |
I592T |
probably benign |
Het |
| Ppp2r3c |
T |
A |
12: 55,345,252 (GRCm39) |
R79* |
probably null |
Het |
| Ppp2r3d |
A |
T |
9: 101,090,061 (GRCm39) |
H87Q |
probably benign |
Het |
| Prpf40b |
C |
T |
15: 99,212,784 (GRCm39) |
R627W |
probably damaging |
Het |
| Prrt4 |
G |
T |
6: 29,176,551 (GRCm39) |
T258K |
possibly damaging |
Het |
| Rhpn2 |
T |
A |
7: 35,083,194 (GRCm39) |
|
probably null |
Het |
| Slc11a1 |
T |
A |
1: 74,423,244 (GRCm39) |
I365N |
probably damaging |
Het |
| Slc7a7 |
C |
T |
14: 54,612,108 (GRCm39) |
G265D |
possibly damaging |
Het |
| Thsd7a |
T |
A |
6: 12,555,636 (GRCm39) |
T83S |
possibly damaging |
Het |
| Tln2 |
A |
G |
9: 67,170,187 (GRCm39) |
S1989P |
probably damaging |
Het |
| Tnfaip3 |
T |
G |
10: 18,881,324 (GRCm39) |
T321P |
probably benign |
Het |
| Tnrc6b |
C |
T |
15: 80,808,320 (GRCm39) |
P1623L |
possibly damaging |
Het |
| Trpa1 |
T |
C |
1: 14,982,601 (GRCm39) |
N85S |
probably benign |
Het |
| Trrap |
C |
T |
5: 144,788,066 (GRCm39) |
R3544* |
probably null |
Het |
| Ttf2 |
A |
T |
3: 100,859,869 (GRCm39) |
V695E |
probably benign |
Het |
| Ttll4 |
A |
G |
1: 74,720,512 (GRCm39) |
E509G |
probably damaging |
Het |
| Vdr |
T |
C |
15: 97,767,709 (GRCm39) |
I94V |
probably damaging |
Het |
| Wdfy3 |
G |
T |
5: 102,031,911 (GRCm39) |
Q2304K |
possibly damaging |
Het |
| Zfp663 |
T |
C |
2: 165,200,935 (GRCm39) |
Y33C |
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 |
|
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'- GTCTAGTGCTGTGCCCCATTTG -3'
(R):5'- AGCACTTTGTTGCAATGATCTGG -3'
Sequencing Primer
(F):5'- ATTTGGTCACCTCGAGGCCTG -3'
(R):5'- GCAATGATCTGGCAAGCTGTTAC -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation