Incidental Mutation 'IGL01107:Arhgef16'
| ID |
50906 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arhgef16
|
| Ensembl Gene |
ENSMUSG00000029032 |
| Gene Name |
Rho guanine nucleotide exchange factor 16 |
| Synonyms |
Neuroblastoma |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01107
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
154362926-154384535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 154364701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 631
(N631S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030897]
[ENSMUST00000030898]
[ENSMUST00000169623]
|
| AlphaFold |
Q3U5C8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030897
|
| SMART Domains |
Protein: ENSMUSP00000030897
Gene: ENSMUSG00000057751
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
EGF_CA
|
122 |
162 |
1.54e-6 |
SMART |
|
EGF_CA
|
163 |
203 |
2.08e-12 |
SMART |
|
EGF
|
207 |
245 |
5.4e-2 |
SMART |
|
EGF
|
249 |
286 |
2.39e-3 |
SMART |
|
EGF_CA
|
287 |
327 |
4.96e-10 |
SMART |
|
EGF
|
336 |
373 |
1.64e-1 |
SMART |
|
EGF
|
377 |
413 |
1.99e1 |
SMART |
|
EGF_CA
|
414 |
454 |
7.4e-9 |
SMART |
|
EGF
|
521 |
554 |
4.26e0 |
SMART |
|
EGF_Lam
|
570 |
609 |
1.19e-3 |
SMART |
|
EGF_like
|
613 |
652 |
5.29e-1 |
SMART |
|
EGF
|
642 |
685 |
2.2e1 |
SMART |
|
EGF_Lam
|
656 |
697 |
1.04e-3 |
SMART |
|
EGF
|
687 |
730 |
1.59e1 |
SMART |
|
EGF_like
|
701 |
742 |
2.27e0 |
SMART |
|
EGF_Lam
|
746 |
784 |
1.33e-1 |
SMART |
|
EGF
|
783 |
816 |
2.85e-1 |
SMART |
|
EGF_Lam
|
832 |
871 |
3.88e-3 |
SMART |
|
EGF_Lam
|
875 |
915 |
3.25e-5 |
SMART |
|
EGF
|
914 |
946 |
4.7e-2 |
SMART |
|
EGF_like
|
962 |
1001 |
1.69e-1 |
SMART |
|
EGF
|
1000 |
1032 |
7.02e-1 |
SMART |
|
EGF_Lam
|
1048 |
1087 |
3.1e-2 |
SMART |
|
EGF
|
1077 |
1118 |
7.53e-1 |
SMART |
|
EGF_like
|
1091 |
1130 |
5.59e-1 |
SMART |
|
EGF
|
1129 |
1161 |
5.04e-2 |
SMART |
|
EGF_Lam
|
1177 |
1216 |
2.94e-3 |
SMART |
|
EGF
|
1206 |
1248 |
1.87e1 |
SMART |
|
EGF_Lam
|
1220 |
1260 |
3.1e-2 |
SMART |
|
EGF
|
1259 |
1291 |
1.73e0 |
SMART |
|
EGF
|
1302 |
1334 |
6.55e-1 |
SMART |
|
EGF
|
1345 |
1377 |
4.39e-2 |
SMART |
|
EGF_Lam
|
1393 |
1432 |
7.64e-2 |
SMART |
|
EGF_Lam
|
1436 |
1475 |
2.64e-5 |
SMART |
|
EGF_like
|
1465 |
1506 |
4.2e1 |
SMART |
|
EGF_Lam
|
1479 |
1518 |
1.19e-3 |
SMART |
|
EGF
|
1517 |
1549 |
1.84e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030898
AA Change: N631S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000030898
Gene: ENSMUSG00000029032
AA Change: N631S
| 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: N631S
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000126296
Gene: ENSMUSG00000029032
AA Change: N631S
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,687,948 (GRCm39) |
F215Y |
probably damaging |
Het |
| 2700049A03Rik |
T |
C |
12: 71,241,242 (GRCm39) |
|
probably null |
Het |
| Akip1 |
C |
T |
7: 109,311,045 (GRCm39) |
T195M |
probably damaging |
Het |
| Brat1 |
C |
T |
5: 140,702,932 (GRCm39) |
S544L |
probably damaging |
Het |
| Cfap65 |
C |
T |
1: 74,958,342 (GRCm39) |
|
probably null |
Het |
| Defa22 |
T |
A |
8: 21,653,053 (GRCm39) |
|
probably null |
Het |
| Dnajc4 |
C |
T |
19: 6,966,869 (GRCm39) |
R153H |
probably benign |
Het |
| Dusp11 |
A |
G |
6: 85,929,352 (GRCm39) |
|
probably benign |
Het |
| E2f4 |
T |
A |
8: 106,030,809 (GRCm39) |
|
probably benign |
Het |
| Ece1 |
T |
A |
4: 137,665,969 (GRCm39) |
L271Q |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 44,742,752 (GRCm39) |
D343G |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,238,945 (GRCm39) |
E412G |
probably damaging |
Het |
| Il4ra |
G |
T |
7: 125,175,086 (GRCm39) |
L431F |
possibly damaging |
Het |
| Ilrun |
A |
T |
17: 28,005,043 (GRCm39) |
|
probably null |
Het |
| Krt86 |
T |
A |
15: 101,373,306 (GRCm39) |
L200Q |
probably damaging |
Het |
| Lpcat1 |
T |
A |
13: 73,642,947 (GRCm39) |
F126I |
probably damaging |
Het |
| Prag1 |
A |
G |
8: 36,567,085 (GRCm39) |
T79A |
probably benign |
Het |
| Pramel13 |
A |
T |
4: 144,119,664 (GRCm39) |
I301N |
probably benign |
Het |
| Psg29 |
G |
T |
7: 16,938,850 (GRCm39) |
L41F |
probably benign |
Het |
| Rai14 |
C |
T |
15: 10,599,797 (GRCm39) |
|
probably benign |
Het |
| Reg3a |
A |
G |
6: 78,360,228 (GRCm39) |
D136G |
probably benign |
Het |
| Rif1 |
A |
G |
2: 52,001,315 (GRCm39) |
T1590A |
probably benign |
Het |
| Rorb |
A |
T |
19: 18,934,692 (GRCm39) |
L300* |
probably null |
Het |
| Sin3b |
T |
C |
8: 73,457,733 (GRCm39) |
C150R |
possibly damaging |
Het |
| Smarcc1 |
C |
A |
9: 110,051,005 (GRCm39) |
H942N |
probably damaging |
Het |
| Tas2r105 |
A |
G |
6: 131,664,074 (GRCm39) |
V118A |
probably benign |
Het |
| Tmem131 |
T |
C |
1: 36,868,662 (GRCm39) |
S388G |
probably damaging |
Het |
| Ttll9 |
C |
A |
2: 152,844,809 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,859,325 (GRCm39) |
L498P |
probably damaging |
Het |
| Vmn2r100 |
A |
G |
17: 19,741,618 (GRCm39) |
Y110C |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,826,370 (GRCm39) |
Y800H |
probably damaging |
Het |
| Zdhhc20 |
T |
A |
14: 58,103,046 (GRCm39) |
E101V |
probably damaging |
Het |
|
| Other mutations in Arhgef16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation