Incidental Mutation 'R7360:Gm1527'
ID |
571245 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gm1527
|
Ensembl Gene |
ENSMUSG00000074655 |
Gene Name |
predicted gene 1527 |
Synonyms |
LOC385263 |
MMRRC Submission |
045446-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R7360 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
28946768-28980874 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 28968691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 248
(Q248*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096773
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099170]
|
AlphaFold |
Q3V0P3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000099170
AA Change: Q248*
|
SMART Domains |
Protein: ENSMUSP00000096773 Gene: ENSMUSG00000074655 AA Change: Q248*
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (54/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot11 |
G |
C |
4: 106,606,548 (GRCm39) |
P534A |
possibly damaging |
Het |
Arhgef26 |
T |
A |
3: 62,355,626 (GRCm39) |
Y733N |
possibly damaging |
Het |
Aste1 |
G |
T |
9: 105,274,835 (GRCm39) |
M358I |
probably damaging |
Het |
B4galnt3 |
C |
T |
6: 120,209,940 (GRCm39) |
W61* |
probably null |
Het |
Brd9 |
C |
T |
13: 74,092,942 (GRCm39) |
R311W |
probably benign |
Het |
Cdkn1c |
T |
C |
7: 143,014,431 (GRCm39) |
D5G |
possibly damaging |
Het |
Cerk |
A |
G |
15: 86,043,327 (GRCm39) |
F158S |
probably damaging |
Het |
Clec2m |
C |
T |
6: 129,303,710 (GRCm39) |
R85H |
probably benign |
Het |
Cnot4 |
T |
A |
6: 35,041,941 (GRCm39) |
E235V |
probably damaging |
Het |
Crmp1 |
T |
C |
5: 37,433,624 (GRCm39) |
V275A |
possibly damaging |
Het |
Dcbld2 |
C |
A |
16: 58,285,683 (GRCm39) |
|
probably null |
Het |
Dip2a |
T |
C |
10: 76,114,394 (GRCm39) |
R1029G |
probably damaging |
Het |
Dnaaf1 |
A |
G |
8: 120,304,090 (GRCm39) |
T43A |
probably benign |
Het |
Eaf2 |
C |
T |
16: 36,648,514 (GRCm39) |
S2N |
probably benign |
Het |
Eif2b4 |
T |
C |
5: 31,348,719 (GRCm39) |
D164G |
probably benign |
Het |
Fpgs |
T |
C |
2: 32,584,005 (GRCm39) |
Y45C |
possibly damaging |
Het |
Gm29666 |
C |
T |
15: 84,798,469 (GRCm39) |
A31T |
unknown |
Het |
Gmip |
C |
A |
8: 70,263,892 (GRCm39) |
A112D |
probably damaging |
Het |
Hibadh |
C |
T |
6: 52,617,197 (GRCm39) |
G13S |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,494,597 (GRCm39) |
V4164D |
probably damaging |
Het |
Kif15 |
A |
T |
9: 122,820,202 (GRCm39) |
N580I |
probably benign |
Het |
Krt25 |
G |
A |
11: 99,208,232 (GRCm39) |
T332M |
probably benign |
Het |
Krt88 |
G |
T |
15: 101,345,643 (GRCm39) |
|
probably benign |
Het |
Lrrk2 |
T |
C |
15: 91,615,858 (GRCm39) |
|
probably null |
Het |
Mapkapk5 |
A |
G |
5: 121,675,169 (GRCm39) |
|
probably benign |
Het |
Myh7b |
C |
T |
2: 155,474,460 (GRCm39) |
S1725L |
probably benign |
Het |
Nckap1l |
T |
G |
15: 103,384,526 (GRCm39) |
|
probably null |
Het |
Nphp3 |
A |
G |
9: 103,893,277 (GRCm39) |
|
probably null |
Het |
Obscn |
A |
C |
11: 58,973,185 (GRCm39) |
V1996G |
probably damaging |
Het |
Or14j8 |
T |
A |
17: 38,263,900 (GRCm39) |
N5I |
probably damaging |
Het |
Or4a66 |
A |
T |
2: 88,531,331 (GRCm39) |
V114E |
probably damaging |
Het |
Parp8 |
T |
C |
13: 117,032,307 (GRCm39) |
T289A |
probably benign |
Het |
Pcsk5 |
T |
C |
19: 17,492,577 (GRCm39) |
K932R |
probably benign |
Het |
Pde4dip |
T |
C |
3: 97,625,632 (GRCm39) |
D1322G |
probably benign |
Het |
Peli3 |
A |
T |
19: 4,985,103 (GRCm39) |
M136K |
possibly damaging |
Het |
Pgm5 |
A |
G |
19: 24,812,181 (GRCm39) |
I117T |
probably damaging |
Het |
Ppm1g |
T |
C |
5: 31,360,621 (GRCm39) |
D478G |
probably damaging |
Het |
Ppp2r5c |
A |
G |
12: 110,541,272 (GRCm39) |
T474A |
probably benign |
Het |
Ptger3 |
T |
C |
3: 157,272,764 (GRCm39) |
V37A |
probably benign |
Het |
Ptprz1 |
T |
C |
6: 23,000,906 (GRCm39) |
S999P |
probably damaging |
Het |
Pygl |
C |
T |
12: 70,274,306 (GRCm39) |
G18S |
probably benign |
Het |
Rest |
T |
C |
5: 77,428,976 (GRCm39) |
V465A |
probably benign |
Het |
Sart1 |
T |
C |
19: 5,433,231 (GRCm39) |
D422G |
probably damaging |
Het |
Sgk1 |
A |
G |
10: 21,869,972 (GRCm39) |
M4V |
probably benign |
Het |
Slc33a1 |
A |
G |
3: 63,855,075 (GRCm39) |
V395A |
possibly damaging |
Het |
Slc38a11 |
A |
T |
2: 65,184,139 (GRCm39) |
S171T |
possibly damaging |
Het |
Slc4a2 |
T |
A |
5: 24,634,713 (GRCm39) |
S76T |
probably benign |
Het |
Spata31h1 |
T |
C |
10: 82,132,341 (GRCm39) |
D223G |
unknown |
Het |
Ssc4d |
T |
A |
5: 135,994,965 (GRCm39) |
S184C |
probably damaging |
Het |
Tspoap1 |
A |
G |
11: 87,669,347 (GRCm39) |
Y1540C |
probably benign |
Het |
Ube3a |
T |
A |
7: 58,926,383 (GRCm39) |
L408Q |
probably damaging |
Het |
Usp43 |
C |
A |
11: 67,767,155 (GRCm39) |
|
probably null |
Het |
Zan |
A |
C |
5: 137,385,232 (GRCm39) |
V5067G |
unknown |
Het |
Zfp180 |
C |
A |
7: 23,804,915 (GRCm39) |
L445I |
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 |
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'- GAAGGGTTGCTCAGTCTCATC -3'
(R):5'- TGGAATGTTCTCCCTATCATCAAGC -3'
Sequencing Primer
(F):5'- CTTCTTAAAGGCTTCAAGTATCCAC -3'
(R):5'- TCCCTATCATCAAGCTTAGTCTTG -3'
|
Posted On |
2019-09-13 |