Incidental Mutation 'R1576:Arhgef16'
ID |
171156 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Arhgef16
|
Ensembl Gene |
ENSMUSG00000029032 |
Gene Name |
Rho guanine nucleotide exchange factor 16 |
Synonyms |
Neuroblastoma |
MMRRC Submission |
039614-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1576 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
154362926-154384535 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 154375769 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 75
(L75R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030898]
[ENSMUST00000152947]
[ENSMUST00000154895]
[ENSMUST00000169623]
|
AlphaFold |
Q3U5C8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030898
AA Change: L75R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030898 Gene: ENSMUSG00000029032 AA Change: L75R
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: ENSMUST00000144145
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000152947
AA Change: L75R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119398 Gene: ENSMUSG00000029032 AA Change: L75R
Domain | Start | End | E-Value | Type |
low complexity region
|
51 |
72 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154895
AA Change: L75R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121273 Gene: ENSMUSG00000029032 AA Change: L75R
Domain | Start | End | E-Value | Type |
low complexity region
|
51 |
72 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169623
AA Change: L75R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126296 Gene: ENSMUSG00000029032 AA Change: L75R
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 |
0.1703 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
Validation Efficiency |
100% (49/49) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap3m2 |
G |
A |
8: 23,298,483 (GRCm39) |
|
probably benign |
Het |
Apol11a |
T |
A |
15: 77,401,131 (GRCm39) |
I206N |
probably damaging |
Het |
Arfgap3 |
A |
G |
15: 83,197,764 (GRCm39) |
S331P |
possibly damaging |
Het |
Cfi |
T |
C |
3: 129,666,699 (GRCm39) |
V474A |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,643,145 (GRCm39) |
V739A |
probably damaging |
Het |
Dpy19l2 |
T |
A |
9: 24,495,798 (GRCm39) |
H640L |
probably benign |
Het |
Eif4g3 |
T |
A |
4: 137,824,181 (GRCm39) |
M57K |
probably damaging |
Het |
Emilin2 |
A |
G |
17: 71,562,112 (GRCm39) |
|
probably null |
Het |
Epc1 |
T |
C |
18: 6,452,366 (GRCm39) |
E281G |
possibly damaging |
Het |
Fancd2 |
G |
T |
6: 113,555,366 (GRCm39) |
S1125I |
probably damaging |
Het |
Fh1 |
G |
A |
1: 175,435,385 (GRCm39) |
P366L |
probably null |
Het |
Gata3 |
A |
T |
2: 9,868,007 (GRCm39) |
S316T |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,532,992 (GRCm39) |
S3064T |
possibly damaging |
Het |
Inpp5d |
A |
T |
1: 87,597,407 (GRCm39) |
T193S |
probably benign |
Het |
Inpp5d |
A |
T |
1: 87,609,280 (GRCm39) |
I277F |
probably damaging |
Het |
Itga5 |
T |
C |
15: 103,260,044 (GRCm39) |
D616G |
probably damaging |
Het |
Jade1 |
T |
A |
3: 41,546,242 (GRCm39) |
V89E |
probably damaging |
Het |
Lamb2 |
T |
C |
9: 108,357,506 (GRCm39) |
S81P |
probably damaging |
Het |
Lrrc19 |
G |
A |
4: 94,527,590 (GRCm39) |
P207L |
probably damaging |
Het |
Maea |
A |
G |
5: 33,520,040 (GRCm39) |
D147G |
probably damaging |
Het |
Muc6 |
T |
A |
7: 141,214,437 (GRCm39) |
E2767V |
possibly damaging |
Het |
Myom2 |
A |
G |
8: 15,134,556 (GRCm39) |
Y453C |
probably damaging |
Het |
Naip2 |
G |
A |
13: 100,291,537 (GRCm39) |
|
probably benign |
Het |
Naip2 |
A |
T |
13: 100,291,529 (GRCm39) |
D1136E |
probably benign |
Het |
Nap1l1 |
A |
G |
10: 111,330,681 (GRCm39) |
D362G |
probably damaging |
Het |
Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
Nudt21 |
A |
C |
8: 94,755,461 (GRCm39) |
|
probably null |
Het |
Nufip1 |
A |
G |
14: 76,372,310 (GRCm39) |
N475D |
probably benign |
Het |
Pcdhb8 |
A |
G |
18: 37,489,756 (GRCm39) |
D478G |
probably damaging |
Het |
Pla2g4d |
A |
G |
2: 120,114,648 (GRCm39) |
S28P |
probably damaging |
Het |
Polr2j |
C |
A |
5: 136,148,882 (GRCm39) |
N29K |
probably damaging |
Het |
Ppp2r2a |
A |
G |
14: 67,276,318 (GRCm39) |
|
probably benign |
Het |
Ptprk |
A |
G |
10: 28,427,647 (GRCm39) |
D742G |
probably damaging |
Het |
Pum2 |
A |
G |
12: 8,763,524 (GRCm39) |
D227G |
probably benign |
Het |
Rfxank |
C |
A |
8: 70,586,953 (GRCm39) |
R221L |
possibly damaging |
Het |
Shank3 |
C |
A |
15: 89,387,866 (GRCm39) |
Q317K |
probably benign |
Het |
Slc22a17 |
A |
G |
14: 55,145,447 (GRCm39) |
V460A |
probably damaging |
Het |
Slc39a11 |
G |
T |
11: 113,450,361 (GRCm39) |
D41E |
probably damaging |
Het |
Spag17 |
T |
C |
3: 99,846,679 (GRCm39) |
S68P |
possibly damaging |
Het |
Sstr5 |
C |
T |
17: 25,710,272 (GRCm39) |
C319Y |
possibly damaging |
Het |
Stk17b |
G |
T |
1: 53,796,749 (GRCm39) |
D339E |
probably damaging |
Het |
Tagln2 |
A |
G |
1: 172,332,788 (GRCm39) |
D25G |
probably benign |
Het |
Ttn |
C |
T |
2: 76,625,194 (GRCm39) |
V13417I |
probably benign |
Het |
Vps50 |
A |
G |
6: 3,545,568 (GRCm39) |
E334G |
possibly damaging |
Het |
Zfp316 |
T |
C |
5: 143,249,849 (GRCm39) |
E138G |
unknown |
Het |
Zfp879 |
T |
A |
11: 50,724,376 (GRCm39) |
T227S |
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 |
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'- AGGTTCCCGGTAGTAACCATGTCC -3'
(R):5'- GCATGTCCCAGAGACATTCTGACAG -3'
Sequencing Primer
(F):5'- TGTCATCCAACGAGAAGCTG -3'
(R):5'- CAGCTCTCTGGATGAGAAACTACTG -3'
|
Posted On |
2014-04-13 |