Incidental Mutation 'R4437:Arhgef16'
| ID |
329569 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef16
|
| Ensembl Gene |
ENSMUSG00000029032 |
| Gene Name |
Rho guanine nucleotide exchange factor 16 |
| Synonyms |
Neuroblastoma |
| MMRRC Submission |
041150-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4437 (G1)
|
| Quality Score |
148 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
154362926-154384535 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 154364153 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126296
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030897]
[ENSMUST00000030898]
[ENSMUST00000169623]
[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 null
Transcript: ENSMUST00000030898
|
| SMART Domains |
Protein: ENSMUSP00000030898
Gene: ENSMUSG00000029032
| 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: ENSMUST00000127088
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129189
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143141
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144145
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169623
|
| SMART Domains |
Protein: ENSMUSP00000126296
Gene: ENSMUSG00000029032
| 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 |
probably null
Transcript: ENSMUST00000169623
|
| SMART Domains |
Protein: ENSMUSP00000126296
Gene: ENSMUSG00000029032
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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 |
|---|
| Adam6b |
A |
C |
12: 113,454,281 (GRCm39) |
Q366P |
probably damaging |
Het |
| Bcar1 |
G |
A |
8: 112,442,021 (GRCm39) |
T273M |
probably damaging |
Het |
| Bcl2a1d |
A |
T |
9: 88,613,753 (GRCm39) |
M7K |
probably benign |
Het |
| Bptf |
A |
G |
11: 106,965,300 (GRCm39) |
V1235A |
possibly damaging |
Het |
| Camsap1 |
G |
A |
2: 25,828,658 (GRCm39) |
T1022I |
possibly damaging |
Het |
| Cdc37l1 |
T |
C |
19: 28,985,021 (GRCm39) |
F224L |
probably damaging |
Het |
| Col4a1 |
G |
T |
8: 11,256,387 (GRCm39) |
C1493* |
probably null |
Het |
| Cul9 |
A |
G |
17: 46,813,085 (GRCm39) |
L2378P |
probably damaging |
Het |
| D630003M21Rik |
G |
A |
2: 158,055,382 (GRCm39) |
P585L |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,263,248 (GRCm39) |
D567G |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,236 (GRCm39) |
I510V |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,761,824 (GRCm39) |
F163I |
probably damaging |
Het |
| Gm2381 |
A |
T |
7: 42,469,268 (GRCm39) |
H285Q |
probably damaging |
Het |
| Gm4884 |
A |
G |
7: 40,692,514 (GRCm39) |
Q161R |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igkv1-99 |
T |
G |
6: 68,519,318 (GRCm39) |
S91A |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,655,982 (GRCm39) |
L302P |
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,519,972 (GRCm39) |
|
probably null |
Het |
| Myoc |
A |
G |
1: 162,476,681 (GRCm39) |
M462V |
possibly damaging |
Het |
| Nkx2-4 |
T |
C |
2: 146,926,179 (GRCm39) |
T228A |
possibly damaging |
Het |
| Npr1 |
T |
G |
3: 90,363,593 (GRCm39) |
D810A |
probably damaging |
Het |
| Or4a68 |
T |
G |
2: 89,269,698 (GRCm39) |
R308S |
possibly damaging |
Het |
| Or4k15b |
T |
C |
14: 50,272,287 (GRCm39) |
D191G |
probably damaging |
Het |
| Or51a24 |
T |
C |
7: 103,734,128 (GRCm39) |
E53G |
possibly damaging |
Het |
| Pde4dip |
G |
A |
3: 97,673,885 (GRCm39) |
L344F |
possibly damaging |
Het |
| Pfas |
A |
G |
11: 68,879,243 (GRCm39) |
L1218P |
probably damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,021,318 (GRCm39) |
E79G |
probably damaging |
Het |
| Rln1 |
A |
T |
19: 29,311,962 (GRCm39) |
F12Y |
possibly damaging |
Het |
| Robo2 |
T |
C |
16: 73,770,132 (GRCm39) |
T531A |
possibly damaging |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Tsc2 |
G |
A |
17: 24,818,687 (GRCm39) |
P1450L |
probably benign |
Het |
| Vps33a |
A |
T |
5: 123,669,947 (GRCm39) |
I519N |
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 |
|
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 |
|
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'- CCCTTTGGAGGTACTGAGTG -3'
(R):5'- AGCTGTCTATCTTGTGCTGAGAC -3'
Sequencing Primer
(F):5'- CACCTTGGAGCTTGCTAATGAAG -3'
(R):5'- AGACAGCTGGTGCCATGTGTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation