Incidental Mutation 'R9615:Gm1527'
| ID |
724495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm1527
|
| Ensembl Gene |
ENSMUSG00000074655 |
| Gene Name |
predicted gene 1527 |
| Synonyms |
LOC385263 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R9615 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
28946768-28980874 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28969475 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 275
(D275G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096773
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099170]
|
| AlphaFold |
Q3V0P3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099170
AA Change: D275G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096773
Gene: ENSMUSG00000074655
AA Change: D275G
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
16 |
119 |
2.37e-6 |
SMART |
|
Pfam:RA
|
125 |
214 |
1.7e-8 |
PFAM |
|
RhoGAP
|
300 |
471 |
2.8e-29 |
SMART |
|
transmembrane domain
|
623 |
645 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123K08Rik |
T |
C |
5: 138,561,814 (GRCm39) |
Q124R |
probably damaging |
Het |
| Abca16 |
T |
A |
7: 120,126,404 (GRCm39) |
F1188I |
probably benign |
Het |
| Acat3 |
G |
A |
17: 13,147,502 (GRCm39) |
Q172* |
probably null |
Het |
| Aicda |
T |
A |
6: 122,538,113 (GRCm39) |
C90* |
probably null |
Het |
| Arhgap39 |
C |
A |
15: 76,621,438 (GRCm39) |
V388L |
probably benign |
Het |
| B020011L13Rik |
A |
T |
1: 117,729,462 (GRCm39) |
H323L |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,984,430 (GRCm39) |
R436Q |
|
Het |
| C3 |
A |
T |
17: 57,518,669 (GRCm39) |
L1238Q |
probably damaging |
Het |
| Cert1 |
C |
T |
13: 96,767,334 (GRCm39) |
H495Y |
possibly damaging |
Het |
| Ces1g |
A |
G |
8: 94,061,807 (GRCm39) |
V33A |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,722,757 (GRCm39) |
D475G |
probably damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,019,286 (GRCm39) |
V101A |
probably damaging |
Het |
| Cnnm4 |
A |
G |
1: 36,511,893 (GRCm39) |
M374V |
probably damaging |
Het |
| Commd9 |
T |
C |
2: 101,727,436 (GRCm39) |
S77P |
possibly damaging |
Het |
| Cox7a2l |
A |
G |
17: 83,821,701 (GRCm39) |
Y2H |
possibly damaging |
Het |
| Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
| Cubn |
G |
A |
2: 13,325,991 (GRCm39) |
H2725Y |
possibly damaging |
Het |
| Cyp2c39 |
T |
C |
19: 39,501,617 (GRCm39) |
F57L |
probably benign |
Het |
| Dgkh |
A |
T |
14: 78,813,370 (GRCm39) |
V1036D |
possibly damaging |
Het |
| Dip2c |
G |
A |
13: 9,625,191 (GRCm39) |
V562I |
probably benign |
Het |
| Fat3 |
T |
C |
9: 16,289,343 (GRCm39) |
Q60R |
probably benign |
Het |
| Gp5 |
A |
C |
16: 30,128,393 (GRCm39) |
F94V |
probably damaging |
Het |
| Grik4 |
T |
A |
9: 42,502,765 (GRCm39) |
K453* |
probably null |
Het |
| Hdlbp |
T |
C |
1: 93,358,014 (GRCm39) |
T296A |
probably benign |
Het |
| Hrh4 |
C |
A |
18: 13,154,944 (GRCm39) |
T161K |
probably benign |
Het |
| Ift74 |
A |
T |
4: 94,550,822 (GRCm39) |
|
probably null |
Het |
| Kctd5 |
A |
T |
17: 24,292,192 (GRCm39) |
Y71N |
probably benign |
Het |
| Klhl42 |
T |
C |
6: 147,009,373 (GRCm39) |
L404P |
probably damaging |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lipe |
T |
A |
7: 25,097,326 (GRCm39) |
K206* |
probably null |
Het |
| Lipo3 |
T |
C |
19: 33,754,047 (GRCm39) |
I363V |
probably benign |
Het |
| Mrgpra6 |
T |
A |
7: 46,835,675 (GRCm39) |
I249F |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,374,320 (GRCm39) |
N125I |
|
Het |
| Nbr1 |
T |
A |
11: 101,465,978 (GRCm39) |
I753N |
probably benign |
Het |
| Ndor1 |
T |
C |
2: 25,138,434 (GRCm39) |
D451G |
probably benign |
Het |
| Nlrp5 |
C |
T |
7: 23,107,561 (GRCm39) |
T78I |
probably benign |
Het |
| Or10j3b |
A |
T |
1: 173,044,034 (GRCm39) |
E272V |
possibly damaging |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,164,399 (GRCm39) |
F728S |
probably damaging |
Het |
| Ptgs2 |
T |
A |
1: 149,980,802 (GRCm39) |
F456Y |
probably damaging |
Het |
| Rtl1 |
G |
A |
12: 109,556,835 (GRCm39) |
A1668V |
possibly damaging |
Het |
| Runx2 |
A |
T |
17: 44,969,560 (GRCm39) |
D310E |
probably benign |
Het |
| Samd4b |
A |
T |
7: 28,106,714 (GRCm39) |
I349K |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,487,504 (GRCm39) |
M610T |
possibly damaging |
Het |
| Sec61b |
A |
G |
4: 47,483,056 (GRCm39) |
I105V |
probably benign |
Het |
| Semp2l2b |
T |
C |
10: 21,943,611 (GRCm39) |
E123G |
probably benign |
Het |
| Slc35f4 |
A |
G |
14: 49,556,306 (GRCm39) |
V149A |
probably benign |
Het |
| Smndc1 |
T |
A |
19: 53,368,951 (GRCm39) |
M221L |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,316,203 (GRCm39) |
N275D |
possibly damaging |
Het |
| Tas2r124 |
C |
T |
6: 132,732,492 (GRCm39) |
T267I |
probably benign |
Het |
| Thra |
G |
A |
11: 98,651,715 (GRCm39) |
R79H |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,347,032 (GRCm39) |
|
probably benign |
Het |
| Umodl1 |
A |
C |
17: 31,217,152 (GRCm39) |
Q1128P |
possibly damaging |
Het |
| Vps35 |
G |
A |
8: 86,010,633 (GRCm39) |
R237C |
probably benign |
Het |
| Zfp78 |
T |
A |
7: 6,382,074 (GRCm39) |
C343S |
probably damaging |
Het |
| Zfp85 |
A |
G |
13: 67,897,326 (GRCm39) |
Y249H |
probably damaging |
Het |
|
| Other mutations in Gm1527 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01518:Gm1527
|
APN |
3 |
28,949,737 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02069:Gm1527
|
APN |
3 |
28,980,763 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02794:Gm1527
|
APN |
3 |
28,949,829 (GRCm39) |
missense |
unknown |
|
|
IGL03285:Gm1527
|
APN |
3 |
28,974,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4403001:Gm1527
|
UTSW |
3 |
28,972,134 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0316:Gm1527
|
UTSW |
3 |
28,969,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0487:Gm1527
|
UTSW |
3 |
28,980,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1411:Gm1527
|
UTSW |
3 |
28,968,632 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1458:Gm1527
|
UTSW |
3 |
28,972,199 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1470:Gm1527
|
UTSW |
3 |
28,969,417 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1470:Gm1527
|
UTSW |
3 |
28,969,417 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1476:Gm1527
|
UTSW |
3 |
28,980,705 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1523:Gm1527
|
UTSW |
3 |
28,974,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1613:Gm1527
|
UTSW |
3 |
28,953,002 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1649:Gm1527
|
UTSW |
3 |
28,952,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1722:Gm1527
|
UTSW |
3 |
28,975,783 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1760:Gm1527
|
UTSW |
3 |
28,949,699 (GRCm39) |
splice site |
probably benign |
|
|
R1857:Gm1527
|
UTSW |
3 |
28,957,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1981:Gm1527
|
UTSW |
3 |
28,969,984 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2063:Gm1527
|
UTSW |
3 |
28,980,796 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2080:Gm1527
|
UTSW |
3 |
28,980,810 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2115:Gm1527
|
UTSW |
3 |
28,972,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2440:Gm1527
|
UTSW |
3 |
28,949,764 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3799:Gm1527
|
UTSW |
3 |
28,980,745 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4012:Gm1527
|
UTSW |
3 |
28,952,969 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4132:Gm1527
|
UTSW |
3 |
28,974,779 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4234:Gm1527
|
UTSW |
3 |
28,968,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4406:Gm1527
|
UTSW |
3 |
28,949,874 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4528:Gm1527
|
UTSW |
3 |
28,968,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4567:Gm1527
|
UTSW |
3 |
28,968,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4795:Gm1527
|
UTSW |
3 |
28,974,812 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4796:Gm1527
|
UTSW |
3 |
28,974,812 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R5127:Gm1527
|
UTSW |
3 |
28,957,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5774:Gm1527
|
UTSW |
3 |
28,972,239 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5890:Gm1527
|
UTSW |
3 |
28,969,544 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6024:Gm1527
|
UTSW |
3 |
28,974,752 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7092:Gm1527
|
UTSW |
3 |
28,968,696 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7128:Gm1527
|
UTSW |
3 |
28,969,460 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7197:Gm1527
|
UTSW |
3 |
28,980,690 (GRCm39) |
missense |
probably null |
0.00 |
|
R7308:Gm1527
|
UTSW |
3 |
28,956,429 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7360:Gm1527
|
UTSW |
3 |
28,968,691 (GRCm39) |
nonsense |
probably null |
|
|
R7380:Gm1527
|
UTSW |
3 |
28,974,621 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7566:Gm1527
|
UTSW |
3 |
28,974,767 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7864:Gm1527
|
UTSW |
3 |
28,980,619 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7896:Gm1527
|
UTSW |
3 |
28,975,742 (GRCm39) |
splice site |
probably null |
|
|
R8261:Gm1527
|
UTSW |
3 |
28,974,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8300:Gm1527
|
UTSW |
3 |
28,980,744 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9106:Gm1527
|
UTSW |
3 |
28,956,440 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0021:Gm1527
|
UTSW |
3 |
28,974,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0028:Gm1527
|
UTSW |
3 |
28,968,649 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGCCTAACCCATTACAACAGGG -3'
(R):5'- AGGACCTTGAACTGGTTTTGTAC -3'
Sequencing Primer
(F):5'- CCCATTACAACAGGGATATTATGC -3'
(R):5'- TGTTAACCATGAAAGATCAGGCAAC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation