Incidental Mutation 'R1148:Arhgef16'
ID |
165195 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef16
|
Ensembl Gene |
ENSMUSG00000029032 |
Gene Name |
Rho guanine nucleotide exchange factor 16 |
Synonyms |
Neuroblastoma |
MMRRC Submission |
039221-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1148 (G1)
|
Quality Score |
150 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
154362926-154384535 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 154365346 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 590
(N590D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030898]
[ENSMUST00000169623]
|
AlphaFold |
Q3U5C8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030898
AA Change: N590D
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000030898 Gene: ENSMUSG00000029032 AA Change: N590D
Domain | Start | End | E-Value | Type |
low complexity region
|
51 |
72 |
N/A |
INTRINSIC |
RhoGEF
|
292 |
471 |
5.9e-52 |
SMART |
PH
|
506 |
626 |
6.46e-8 |
SMART |
SH3
|
636 |
692 |
2.31e-12 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129189
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143141
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144145
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169623
AA Change: N590D
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000126296 Gene: ENSMUSG00000029032 AA Change: N590D
Domain | Start | End | E-Value | Type |
low complexity region
|
51 |
72 |
N/A |
INTRINSIC |
RhoGEF
|
292 |
471 |
5.9e-52 |
SMART |
PH
|
506 |
626 |
6.46e-8 |
SMART |
SH3
|
636 |
692 |
2.31e-12 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
100% (42/42) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Although the specific function of this protein is not known yet, it is thought to be involved in protein-protein and protein-lipid interactions. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
T |
C |
11: 58,767,544 (GRCm39) |
S14P |
probably damaging |
Het |
Ablim2 |
T |
C |
5: 35,966,605 (GRCm39) |
F178S |
probably damaging |
Het |
AC149051.1 |
A |
G |
8: 64,379,889 (GRCm39) |
L981P |
probably damaging |
Het |
Alg10b |
T |
C |
15: 90,112,068 (GRCm39) |
F304S |
possibly damaging |
Het |
Ank3 |
C |
T |
10: 69,718,369 (GRCm39) |
S540F |
probably damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Bbs9 |
T |
C |
9: 22,486,396 (GRCm39) |
|
probably benign |
Het |
Cfap58 |
C |
T |
19: 47,976,943 (GRCm39) |
H731Y |
probably damaging |
Het |
Cilp |
T |
A |
9: 65,187,598 (GRCm39) |
L1231Q |
possibly damaging |
Het |
Coq8a |
G |
A |
1: 179,996,968 (GRCm39) |
|
probably benign |
Het |
Cyp4x1 |
A |
G |
4: 114,983,752 (GRCm39) |
|
probably benign |
Het |
Dars1 |
T |
C |
1: 128,294,646 (GRCm39) |
|
probably benign |
Het |
Disp2 |
G |
A |
2: 118,636,899 (GRCm39) |
|
probably null |
Het |
Dnah5 |
T |
C |
15: 28,421,836 (GRCm39) |
L3896P |
probably damaging |
Het |
Dpp8 |
T |
C |
9: 64,961,114 (GRCm39) |
|
probably null |
Het |
Esp4 |
A |
C |
17: 40,913,262 (GRCm39) |
N43T |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,908,070 (GRCm39) |
D2644G |
probably damaging |
Het |
Fgd5 |
A |
G |
6: 91,964,612 (GRCm39) |
K124E |
probably benign |
Het |
Folh1 |
T |
C |
7: 86,410,938 (GRCm39) |
D268G |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Homo |
Hexd |
A |
G |
11: 121,112,093 (GRCm39) |
I438V |
probably benign |
Het |
Lonp2 |
A |
G |
8: 87,363,168 (GRCm39) |
E262G |
probably benign |
Het |
Ly6h |
G |
T |
15: 75,437,021 (GRCm39) |
S118R |
unknown |
Het |
Mapk12 |
T |
C |
15: 89,018,826 (GRCm39) |
Y203C |
probably damaging |
Het |
Mapk15 |
A |
G |
15: 75,870,004 (GRCm39) |
T375A |
probably benign |
Het |
Morc2a |
A |
G |
11: 3,628,557 (GRCm39) |
N337D |
probably benign |
Het |
Nsd3 |
A |
G |
8: 26,203,407 (GRCm39) |
D1307G |
probably benign |
Het |
Or5g9 |
C |
A |
2: 85,552,620 (GRCm39) |
Y290* |
probably null |
Het |
Osbpl11 |
T |
C |
16: 33,047,582 (GRCm39) |
F515S |
probably damaging |
Het |
Pcdh15 |
T |
C |
10: 74,006,392 (GRCm39) |
V90A |
probably damaging |
Het |
Ptpn4 |
T |
A |
1: 119,603,439 (GRCm39) |
|
probably benign |
Het |
Ptpn4 |
T |
C |
1: 119,612,270 (GRCm39) |
D41G |
probably damaging |
Het |
Rbm4b |
A |
G |
19: 4,807,527 (GRCm39) |
H81R |
probably damaging |
Het |
Ric1 |
T |
C |
19: 29,557,249 (GRCm39) |
Y445H |
probably benign |
Het |
Sez6l2 |
C |
A |
7: 126,560,984 (GRCm39) |
P483Q |
probably damaging |
Het |
Sh3d19 |
A |
G |
3: 86,014,634 (GRCm39) |
D475G |
possibly damaging |
Het |
Shprh |
T |
C |
10: 11,089,226 (GRCm39) |
S1655P |
possibly damaging |
Het |
Slc25a12 |
G |
A |
2: 71,142,912 (GRCm39) |
|
probably benign |
Het |
Strc |
A |
G |
2: 121,202,558 (GRCm39) |
|
probably benign |
Het |
Trp53rka |
C |
A |
2: 165,334,961 (GRCm39) |
|
probably benign |
Het |
Ttc22 |
G |
A |
4: 106,480,228 (GRCm39) |
V161M |
probably damaging |
Het |
Unc79 |
T |
C |
12: 103,078,926 (GRCm39) |
L1504P |
probably damaging |
Het |
Vldlr |
A |
G |
19: 27,218,691 (GRCm39) |
N514S |
probably benign |
Het |
Wnk1 |
A |
G |
6: 119,928,967 (GRCm39) |
|
probably benign |
Het |
Wsb2 |
T |
C |
5: 117,508,742 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Arhgef16 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01107:Arhgef16
|
APN |
4 |
154,364,701 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02422:Arhgef16
|
APN |
4 |
154,371,522 (GRCm39) |
nonsense |
probably null |
|
IGL02801:Arhgef16
|
APN |
4 |
154,375,964 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02928:Arhgef16
|
APN |
4 |
154,367,350 (GRCm39) |
missense |
probably benign |
0.00 |
R0518:Arhgef16
|
UTSW |
4 |
154,375,491 (GRCm39) |
missense |
probably damaging |
0.99 |
R1148:Arhgef16
|
UTSW |
4 |
154,365,346 (GRCm39) |
missense |
probably benign |
0.05 |
R1576:Arhgef16
|
UTSW |
4 |
154,375,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R1778:Arhgef16
|
UTSW |
4 |
154,372,443 (GRCm39) |
missense |
probably benign |
0.17 |
R1853:Arhgef16
|
UTSW |
4 |
154,375,563 (GRCm39) |
missense |
probably benign |
0.14 |
R1912:Arhgef16
|
UTSW |
4 |
154,364,780 (GRCm39) |
splice site |
probably null |
|
R2269:Arhgef16
|
UTSW |
4 |
154,369,490 (GRCm39) |
missense |
probably damaging |
0.98 |
R4437:Arhgef16
|
UTSW |
4 |
154,364,153 (GRCm39) |
critical splice donor site |
probably null |
|
R4690:Arhgef16
|
UTSW |
4 |
154,372,420 (GRCm39) |
splice site |
probably null |
|
R5174:Arhgef16
|
UTSW |
4 |
154,366,504 (GRCm39) |
missense |
probably damaging |
1.00 |
R5566:Arhgef16
|
UTSW |
4 |
154,370,105 (GRCm39) |
missense |
probably benign |
0.01 |
R6348:Arhgef16
|
UTSW |
4 |
154,371,540 (GRCm39) |
missense |
probably benign |
0.18 |
R7264:Arhgef16
|
UTSW |
4 |
154,365,387 (GRCm39) |
missense |
probably damaging |
1.00 |
R7469:Arhgef16
|
UTSW |
4 |
154,375,763 (GRCm39) |
missense |
probably damaging |
1.00 |
R7626:Arhgef16
|
UTSW |
4 |
154,367,339 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7651:Arhgef16
|
UTSW |
4 |
154,375,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R7684:Arhgef16
|
UTSW |
4 |
154,366,285 (GRCm39) |
missense |
possibly damaging |
0.62 |
R7759:Arhgef16
|
UTSW |
4 |
154,371,432 (GRCm39) |
missense |
probably benign |
0.00 |
R8334:Arhgef16
|
UTSW |
4 |
154,367,224 (GRCm39) |
nonsense |
probably null |
|
R8993:Arhgef16
|
UTSW |
4 |
154,371,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R8995:Arhgef16
|
UTSW |
4 |
154,371,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R9141:Arhgef16
|
UTSW |
4 |
154,366,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R9256:Arhgef16
|
UTSW |
4 |
154,363,502 (GRCm39) |
nonsense |
probably null |
|
R9266:Arhgef16
|
UTSW |
4 |
154,375,922 (GRCm39) |
missense |
probably benign |
0.14 |
R9426:Arhgef16
|
UTSW |
4 |
154,366,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R9515:Arhgef16
|
UTSW |
4 |
154,365,432 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9516:Arhgef16
|
UTSW |
4 |
154,365,432 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9784:Arhgef16
|
UTSW |
4 |
154,371,422 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Arhgef16
|
UTSW |
4 |
154,365,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGTTTAGCACATCCCATCCTCACG -3'
(R):5'- ACGGAAGCTCCAGGAAGTTCTGTC -3'
Sequencing Primer
(F):5'- ATCCCATCCTCACGGGACTC -3'
(R):5'- AGGAGCACTCTTGTGGTCAAC -3'
|
Posted On |
2014-03-28 |