Incidental Mutation 'R2080:Gm1527'
ID |
229402 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm1527
|
Ensembl Gene |
ENSMUSG00000074655 |
Gene Name |
predicted gene 1527 |
Synonyms |
LOC385263 |
MMRRC Submission |
040085-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.060)
|
Stock # |
R2080 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
28946768-28980874 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 28980810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 637
(C637S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096773
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099170]
|
AlphaFold |
Q3V0P3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099170
AA Change: C637S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000096773 Gene: ENSMUSG00000074655 AA Change: C637S
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
T |
5: 88,119,792 (GRCm39) |
D183V |
probably damaging |
Het |
Ambra1 |
T |
A |
2: 91,716,064 (GRCm39) |
D858E |
probably damaging |
Het |
Amdhd2 |
T |
C |
17: 24,375,578 (GRCm39) |
T370A |
probably benign |
Het |
Amy1 |
A |
G |
3: 113,351,743 (GRCm39) |
W449R |
probably benign |
Het |
Aox3 |
A |
T |
1: 58,225,439 (GRCm39) |
I1179F |
probably benign |
Het |
Atp10a |
C |
A |
7: 58,474,075 (GRCm39) |
Q1121K |
probably damaging |
Het |
Btaf1 |
C |
T |
19: 36,928,548 (GRCm39) |
A123V |
probably benign |
Het |
Car6 |
T |
C |
4: 150,282,598 (GRCm39) |
K16E |
probably benign |
Het |
Cgnl1 |
C |
T |
9: 71,563,378 (GRCm39) |
D779N |
probably benign |
Het |
Cyp2a4 |
G |
A |
7: 26,007,962 (GRCm39) |
R123Q |
possibly damaging |
Het |
D430041D05Rik |
C |
T |
2: 103,987,161 (GRCm39) |
R1895Q |
probably damaging |
Het |
D5Ertd579e |
T |
A |
5: 36,773,550 (GRCm39) |
T282S |
probably benign |
Het |
Dsel |
T |
C |
1: 111,787,692 (GRCm39) |
T948A |
probably benign |
Het |
Ednrb |
A |
T |
14: 104,080,536 (GRCm39) |
I126N |
probably damaging |
Het |
Egln1 |
A |
G |
8: 125,675,045 (GRCm39) |
M250T |
probably benign |
Het |
Epb41l3 |
A |
T |
17: 69,560,463 (GRCm39) |
I337L |
possibly damaging |
Het |
Epg5 |
T |
C |
18: 77,991,960 (GRCm39) |
I219T |
probably benign |
Het |
Gm13030 |
T |
C |
4: 138,600,730 (GRCm39) |
|
probably benign |
Het |
H1f1 |
A |
G |
13: 23,947,932 (GRCm39) |
N78S |
possibly damaging |
Het |
Insrr |
T |
C |
3: 87,721,598 (GRCm39) |
I1168T |
possibly damaging |
Het |
Ireb2 |
T |
C |
9: 54,803,836 (GRCm39) |
V509A |
possibly damaging |
Het |
Kmt2c |
T |
C |
5: 25,559,715 (GRCm39) |
D981G |
probably damaging |
Het |
Ktn1 |
A |
G |
14: 47,963,417 (GRCm39) |
E1164G |
probably damaging |
Het |
L3hypdh |
A |
T |
12: 72,126,301 (GRCm39) |
V213E |
probably damaging |
Het |
Masp1 |
T |
G |
16: 23,310,709 (GRCm39) |
D241A |
probably damaging |
Het |
Mfsd13b |
A |
G |
7: 120,591,047 (GRCm39) |
I1V |
probably null |
Het |
Muc5b |
T |
C |
7: 141,423,491 (GRCm39) |
V4531A |
probably benign |
Het |
Myh2 |
A |
T |
11: 67,065,767 (GRCm39) |
|
probably null |
Het |
Naip5 |
A |
G |
13: 100,358,041 (GRCm39) |
L1065P |
probably damaging |
Het |
Necab1 |
T |
C |
4: 15,140,219 (GRCm39) |
|
probably benign |
Het |
Nemf |
A |
G |
12: 69,400,560 (GRCm39) |
|
probably benign |
Het |
Nfil3 |
A |
T |
13: 53,122,069 (GRCm39) |
D278E |
possibly damaging |
Het |
Nup98 |
T |
C |
7: 101,829,631 (GRCm39) |
N393S |
probably damaging |
Het |
Ogdh |
T |
A |
11: 6,299,393 (GRCm39) |
M753K |
probably benign |
Het |
Or13c3 |
T |
C |
4: 52,855,568 (GRCm39) |
Y315C |
probably benign |
Het |
Or2b6 |
A |
T |
13: 21,823,606 (GRCm39) |
V29E |
probably damaging |
Het |
Or4k47 |
C |
T |
2: 111,452,084 (GRCm39) |
V112M |
probably benign |
Het |
Or51f5 |
T |
C |
7: 102,424,450 (GRCm39) |
F240L |
probably benign |
Het |
Or8b42 |
T |
A |
9: 38,342,378 (GRCm39) |
S267T |
probably benign |
Het |
Pkd2 |
A |
G |
5: 104,624,989 (GRCm39) |
K262E |
probably benign |
Het |
Plce1 |
C |
T |
19: 38,715,457 (GRCm39) |
|
probably benign |
Het |
Ppm1f |
T |
A |
16: 16,741,744 (GRCm39) |
M406K |
possibly damaging |
Het |
Ptgs1 |
C |
T |
2: 36,132,859 (GRCm39) |
Q286* |
probably null |
Het |
Scube2 |
T |
C |
7: 109,407,712 (GRCm39) |
T743A |
possibly damaging |
Het |
Tipin |
T |
A |
9: 64,197,658 (GRCm39) |
L69* |
probably null |
Het |
Tlk1 |
T |
A |
2: 70,568,789 (GRCm39) |
K404N |
probably damaging |
Het |
Tmem59 |
C |
A |
4: 107,035,971 (GRCm39) |
L16I |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,612,826 (GRCm39) |
E426G |
probably benign |
Het |
Xdh |
A |
T |
17: 74,216,320 (GRCm39) |
S709T |
probably damaging |
Het |
Yjefn3 |
T |
C |
8: 70,342,137 (GRCm39) |
N28D |
probably damaging |
Het |
Zfp598 |
A |
C |
17: 24,898,641 (GRCm39) |
D480A |
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 |
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 |
R9615:Gm1527
|
UTSW |
3 |
28,969,475 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- TTTACGTTTCACTTAGCAGGAGTC -3'
(R):5'- TCTAGTGGATCTGTCACAAGAATGC -3'
Sequencing Primer
(F):5'- TTCACTTAGCAGGAGTCAATGAACC -3'
(R):5'- TGTCACAAGAATGCAGGTCCCTG -3'
|
Posted On |
2014-09-17 |