Incidental Mutation 'R6348:Arhgef16'
| ID |
514437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef16
|
| Ensembl Gene |
ENSMUSG00000029032 |
| Gene Name |
Rho guanine nucleotide exchange factor 16 |
| Synonyms |
Neuroblastoma |
| MMRRC Submission |
044502-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6348 (G1)
|
| Quality Score |
216.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
154362926-154384535 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 154371540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 218
(Q218K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030898]
[ENSMUST00000152947]
[ENSMUST00000154895]
[ENSMUST00000169623]
|
| AlphaFold |
Q3U5C8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030898
AA Change: Q218K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000030898
Gene: ENSMUSG00000029032
AA Change: Q218K
| 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: ENSMUST00000152947
|
| SMART Domains |
Protein: ENSMUSP00000119398
Gene: ENSMUSG00000029032
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
72 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154895
AA Change: Q218K
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000121273
Gene: ENSMUSG00000029032
AA Change: Q218K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
51 |
72 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169623
AA Change: Q218K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000126296
Gene: ENSMUSG00000029032
AA Change: Q218K
| 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 |
0.0682 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (37/37) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
A |
T |
6: 116,391,556 (GRCm39) |
H400Q |
probably damaging |
Het |
| Asxl3 |
A |
T |
18: 22,650,330 (GRCm39) |
H773L |
possibly damaging |
Het |
| Atic |
C |
T |
1: 71,615,857 (GRCm39) |
R468W |
probably damaging |
Het |
| Bfsp2 |
A |
T |
9: 103,357,271 (GRCm39) |
V52D |
probably benign |
Het |
| Bicd2 |
A |
G |
13: 49,533,322 (GRCm39) |
H636R |
probably damaging |
Het |
| Chac2 |
A |
G |
11: 30,927,406 (GRCm39) |
V171A |
probably damaging |
Het |
| Chd9 |
A |
G |
8: 91,737,903 (GRCm39) |
I1512V |
possibly damaging |
Het |
| Cnbd1 |
T |
C |
4: 18,860,462 (GRCm39) |
D428G |
probably damaging |
Het |
| Crlf1 |
T |
C |
8: 70,945,990 (GRCm39) |
S22P |
probably benign |
Het |
| Crybg1 |
A |
G |
10: 43,879,947 (GRCm39) |
F414L |
probably damaging |
Het |
| Dnah14 |
A |
T |
1: 181,454,285 (GRCm39) |
D765V |
possibly damaging |
Het |
| Fat3 |
A |
G |
9: 15,849,287 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
A |
T |
17: 37,367,791 (GRCm39) |
M414L |
possibly damaging |
Het |
| Grip2 |
A |
T |
6: 91,757,419 (GRCm39) |
D412E |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,395,258 (GRCm39) |
A4198T |
possibly damaging |
Het |
| Hsd3b3 |
C |
T |
3: 98,663,265 (GRCm39) |
|
probably null |
Het |
| Ifi213 |
G |
A |
1: 173,417,848 (GRCm39) |
T188I |
possibly damaging |
Het |
| Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
| Klk1b11 |
T |
C |
7: 43,647,275 (GRCm39) |
|
probably null |
Het |
| Mepce |
A |
T |
5: 137,783,698 (GRCm39) |
D209E |
possibly damaging |
Het |
| Mtr |
A |
C |
13: 12,262,840 (GRCm39) |
V111G |
possibly damaging |
Het |
| Mtrex |
T |
A |
13: 113,047,451 (GRCm39) |
H298L |
possibly damaging |
Het |
| Or2h1b |
A |
G |
17: 37,462,497 (GRCm39) |
V122A |
probably damaging |
Het |
| Or8k24 |
T |
A |
2: 86,216,513 (GRCm39) |
Q83L |
probably benign |
Het |
| Or9k2b |
A |
T |
10: 130,016,166 (GRCm39) |
N194K |
probably benign |
Het |
| P2rx1 |
G |
A |
11: 72,890,148 (GRCm39) |
R3Q |
probably benign |
Het |
| Phc2 |
G |
A |
4: 128,598,944 (GRCm39) |
G34S |
probably benign |
Het |
| Poglut3 |
G |
A |
9: 53,301,740 (GRCm39) |
V131M |
probably damaging |
Het |
| Ppm1a |
A |
G |
12: 72,837,449 (GRCm39) |
H332R |
probably benign |
Het |
| Sdk2 |
A |
G |
11: 113,784,334 (GRCm39) |
V135A |
probably benign |
Het |
| Slc2a4 |
T |
C |
11: 69,835,848 (GRCm39) |
T334A |
probably benign |
Het |
| Slc6a15 |
T |
G |
10: 103,240,228 (GRCm39) |
V317G |
probably damaging |
Het |
| Speer2 |
T |
C |
16: 69,654,895 (GRCm39) |
D190G |
possibly damaging |
Het |
| Tbc1d21 |
G |
A |
9: 58,268,501 (GRCm39) |
A286V |
probably benign |
Het |
| Tmem210 |
T |
C |
2: 25,178,796 (GRCm39) |
S82P |
probably benign |
Het |
| Top6bl |
G |
C |
19: 4,722,106 (GRCm39) |
P105A |
probably damaging |
Het |
| Zbtb26 |
C |
T |
2: 37,325,687 (GRCm39) |
V450M |
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 |
|
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 |
|
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'- GCCTGAGCCACCATAAGTTG -3'
(R):5'- GTGCCACATTCTACACTGGG -3'
Sequencing Primer
(F):5'- GGTCCCCCTGGATGTTCAG -3'
(R):5'- ACACTGGGCTGCTACACTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation