Incidental Mutation 'R0017:Gnb1l'
| ID |
19373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gnb1l
|
| Ensembl Gene |
ENSMUSG00000000884 |
| Gene Name |
guanine nucleotide binding protein (G protein), beta polypeptide 1-like |
| Synonyms |
ESTM55, Wdr14, Wdvcf, Me49f07 |
| MMRRC Submission |
038312-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.912)
|
| Stock # |
R0017 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
16 |
| Chromosomal Location |
18317463-18385429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18359810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 72
(W72R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000904]
[ENSMUST00000090086]
[ENSMUST00000115600]
[ENSMUST00000115601]
[ENSMUST00000139625]
[ENSMUST00000167778]
[ENSMUST00000147739]
[ENSMUST00000231621]
[ENSMUST00000149035]
|
| AlphaFold |
Q9EQ15 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000904
AA Change: W72R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000000904
Gene: ENSMUSG00000000884
AA Change: W72R
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
8 |
52 |
1.12e-2 |
SMART |
|
WD40
|
55 |
95 |
1.36e-1 |
SMART |
|
Blast:WD40
|
112 |
143 |
1e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090086
AA Change: W72R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000087544
Gene: ENSMUSG00000000884
AA Change: W72R
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
8 |
52 |
1.12e-2 |
SMART |
|
WD40
|
55 |
95 |
1.36e-1 |
SMART |
|
WD40
|
146 |
193 |
9.17e1 |
SMART |
|
WD40
|
196 |
235 |
4.79e-1 |
SMART |
|
WD40
|
238 |
280 |
4.79e-1 |
SMART |
|
WD40
|
283 |
321 |
6.04e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115600
AA Change: W72R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111263
Gene: ENSMUSG00000000884
AA Change: W72R
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
8 |
52 |
1.12e-2 |
SMART |
|
WD40
|
55 |
95 |
1.36e-1 |
SMART |
|
Blast:WD40
|
136 |
188 |
3e-16 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115601
AA Change: W72R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000111264
Gene: ENSMUSG00000000884
AA Change: W72R
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
8 |
52 |
1.12e-2 |
SMART |
|
WD40
|
55 |
95 |
1.36e-1 |
SMART |
|
Blast:WD40
|
138 |
179 |
1e-16 |
BLAST |
|
WD40
|
182 |
221 |
4.79e-1 |
SMART |
|
WD40
|
224 |
266 |
4.79e-1 |
SMART |
|
WD40
|
269 |
307 |
6.04e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129952
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139625
|
| SMART Domains |
Protein: ENSMUSP00000120897
Gene: ENSMUSG00000000884
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
35 |
75 |
2e-21 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167778
AA Change: W72R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130371
Gene: ENSMUSG00000000884
AA Change: W72R
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
8 |
52 |
1.12e-2 |
SMART |
|
WD40
|
55 |
95 |
1.36e-1 |
SMART |
|
WD40
|
146 |
193 |
9.17e1 |
SMART |
|
WD40
|
196 |
235 |
4.79e-1 |
SMART |
|
WD40
|
238 |
280 |
4.79e-1 |
SMART |
|
WD40
|
283 |
321 |
6.04e-8 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147739
AA Change: W72R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123200
Gene: ENSMUSG00000000884
AA Change: W72R
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
8 |
52 |
1.12e-2 |
SMART |
|
WD40
|
55 |
95 |
1.36e-1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231621
AA Change: W72R
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232235
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149035
|
| SMART Domains |
Protein: ENSMUSP00000114875
Gene: ENSMUSG00000000884
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
35 |
76 |
8e-19 |
BLAST |
|
| Meta Mutation Damage Score |
0.7514 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 95.0%
- 20x: 89.2%
|
| Validation Efficiency |
96% (76/79) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a G-protein beta-subunit-like polypeptide which is a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 6 WD repeats and is highly expressed in the heart. The gene maps to the region on chromosome 22q11, which is deleted in DiGeorge syndrome, trisomic in derivative 22 syndrome and tetrasomic in cat-eye syndrome. Therefore, this gene may contribute to the etiology of those disorders. Transcripts from this gene share exons with some transcripts from the C22orf29 gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice heterozygous for a gene trapped allele exhibit significantly reduced prepulse inhibition. Homozygotes die during early gestation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
T |
17: 9,226,938 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,242,775 (GRCm39) |
I1546N |
probably damaging |
Het |
| Actrt3 |
A |
T |
3: 30,652,422 (GRCm39) |
M224K |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,727,065 (GRCm39) |
N429S |
probably benign |
Het |
| Appbp2 |
A |
C |
11: 85,105,129 (GRCm39) |
C146G |
possibly damaging |
Het |
| Cabp2 |
A |
C |
19: 4,136,242 (GRCm39) |
D83A |
possibly damaging |
Het |
| Ccl1 |
A |
G |
11: 82,068,843 (GRCm39) |
|
probably null |
Het |
| Cdca8 |
T |
C |
4: 124,814,168 (GRCm39) |
T208A |
probably benign |
Het |
| Dach1 |
C |
T |
14: 98,406,184 (GRCm39) |
G188R |
probably damaging |
Het |
| Dcdc5 |
G |
A |
2: 106,187,541 (GRCm39) |
|
noncoding transcript |
Het |
| Efr3b |
C |
A |
12: 4,043,003 (GRCm39) |
C89F |
probably damaging |
Het |
| Enpp3 |
C |
T |
10: 24,675,051 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
T |
5: 110,821,395 (GRCm39) |
V2467E |
probably damaging |
Het |
| Ermap |
T |
C |
4: 119,037,145 (GRCm39) |
|
probably benign |
Het |
| Fig4 |
A |
G |
10: 41,149,003 (GRCm39) |
Y150H |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,822,416 (GRCm39) |
V6050M |
probably damaging |
Het |
| Gpld1 |
A |
G |
13: 25,174,101 (GRCm39) |
D842G |
probably damaging |
Het |
| Hmgcr |
A |
G |
13: 96,788,597 (GRCm39) |
|
probably benign |
Het |
| Hrc |
A |
G |
7: 44,985,794 (GRCm39) |
H315R |
possibly damaging |
Het |
| Ifit2 |
A |
T |
19: 34,550,973 (GRCm39) |
N171I |
probably damaging |
Het |
| Ipo11 |
T |
A |
13: 107,023,238 (GRCm39) |
I416L |
probably benign |
Het |
| Kcnab1 |
G |
A |
3: 65,264,527 (GRCm39) |
V259M |
probably damaging |
Het |
| Kcng4 |
T |
C |
8: 120,360,259 (GRCm39) |
Y39C |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,622,725 (GRCm39) |
T526A |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,919,044 (GRCm39) |
Y805C |
probably damaging |
Het |
| Mal |
A |
G |
2: 127,482,227 (GRCm39) |
S59P |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,983,423 (GRCm39) |
N1513D |
probably damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,244,976 (GRCm39) |
L574P |
probably damaging |
Het |
| Nmd3 |
A |
G |
3: 69,643,425 (GRCm39) |
|
probably null |
Het |
| Nucb2 |
A |
G |
7: 116,132,386 (GRCm39) |
D331G |
probably benign |
Het |
| Nwd1 |
T |
C |
8: 73,436,053 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
T |
C |
14: 56,109,852 (GRCm39) |
F1653S |
probably damaging |
Het |
| Or4a80 |
A |
C |
2: 89,582,365 (GRCm39) |
I269S |
possibly damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,706 (GRCm39) |
I194N |
probably benign |
Het |
| Or8b12b |
T |
G |
9: 37,684,274 (GRCm39) |
F106L |
probably benign |
Het |
| Pfdn6 |
T |
C |
17: 34,158,538 (GRCm39) |
R79G |
probably damaging |
Het |
| Pkd1 |
G |
T |
17: 24,797,513 (GRCm39) |
|
probably null |
Het |
| Pramel4 |
T |
G |
4: 143,794,914 (GRCm39) |
C434G |
probably benign |
Het |
| Ptpn13 |
T |
C |
5: 103,634,638 (GRCm39) |
|
probably null |
Het |
| Ptpro |
T |
C |
6: 137,393,825 (GRCm39) |
V831A |
probably benign |
Het |
| Rabl6 |
A |
T |
2: 25,492,579 (GRCm39) |
|
probably benign |
Het |
| Reg3b |
T |
A |
6: 78,349,844 (GRCm39) |
M128K |
possibly damaging |
Het |
| Rif1 |
A |
G |
2: 52,006,686 (GRCm39) |
T2207A |
probably benign |
Het |
| Rpa1 |
A |
C |
11: 75,205,687 (GRCm39) |
N223K |
probably null |
Het |
| Rras2 |
T |
C |
7: 113,647,490 (GRCm39) |
|
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,746,967 (GRCm39) |
E3760V |
probably damaging |
Het |
| Scyl3 |
T |
A |
1: 163,767,538 (GRCm39) |
I204N |
possibly damaging |
Het |
| Serpinb9h |
A |
C |
13: 33,588,494 (GRCm39) |
I360L |
probably damaging |
Het |
| Slc16a12 |
A |
G |
19: 34,650,098 (GRCm39) |
|
probably benign |
Het |
| Slc22a1 |
A |
G |
17: 12,878,646 (GRCm39) |
F356L |
probably damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,195,630 (GRCm39) |
|
probably benign |
Het |
| Slc45a1 |
C |
A |
4: 150,714,023 (GRCm39) |
D741Y |
possibly damaging |
Het |
| Slco1a5 |
A |
T |
6: 142,182,061 (GRCm39) |
|
probably benign |
Het |
| Smg5 |
G |
T |
3: 88,258,412 (GRCm39) |
R461L |
probably damaging |
Het |
| Snrk |
T |
C |
9: 121,995,306 (GRCm39) |
S362P |
probably damaging |
Het |
| Spata31d1b |
A |
G |
13: 59,863,883 (GRCm39) |
S344G |
probably benign |
Het |
| Sync |
G |
A |
4: 129,187,537 (GRCm39) |
V190M |
probably damaging |
Het |
| Taf5l |
T |
C |
8: 124,730,383 (GRCm39) |
Y67C |
probably damaging |
Het |
| Tbkbp1 |
A |
G |
11: 97,037,115 (GRCm39) |
|
probably benign |
Het |
| Tshr |
A |
T |
12: 91,504,660 (GRCm39) |
I533F |
possibly damaging |
Het |
| Tsn |
T |
C |
1: 118,228,589 (GRCm39) |
D211G |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,621,988 (GRCm39) |
T15518I |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,600,583 (GRCm39) |
D1387G |
probably benign |
Het |
| Vapb |
A |
G |
2: 173,613,397 (GRCm39) |
T99A |
probably benign |
Het |
| Vmn2r127 |
A |
G |
17: 19,373,879 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp280d |
A |
T |
9: 72,246,292 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gnb1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01382:Gnb1l
|
APN |
16 |
18,362,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02860:Gnb1l
|
APN |
16 |
18,371,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03155:Gnb1l
|
APN |
16 |
18,359,282 (GRCm39) |
splice site |
probably null |
|
|
IGL03169:Gnb1l
|
APN |
16 |
18,359,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0267:Gnb1l
|
UTSW |
16 |
18,366,839 (GRCm39) |
splice site |
probably benign |
|
|
R0365:Gnb1l
|
UTSW |
16 |
18,371,211 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0845:Gnb1l
|
UTSW |
16 |
18,371,223 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2975:Gnb1l
|
UTSW |
16 |
18,383,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3438:Gnb1l
|
UTSW |
16 |
18,371,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3439:Gnb1l
|
UTSW |
16 |
18,371,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4650:Gnb1l
|
UTSW |
16 |
18,363,025 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4776:Gnb1l
|
UTSW |
16 |
18,366,846 (GRCm39) |
nonsense |
probably null |
|
|
R7135:Gnb1l
|
UTSW |
16 |
18,363,918 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7290:Gnb1l
|
UTSW |
16 |
18,382,806 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7488:Gnb1l
|
UTSW |
16 |
18,359,220 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8195:Gnb1l
|
UTSW |
16 |
18,362,965 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9074:Gnb1l
|
UTSW |
16 |
18,359,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9457:Gnb1l
|
UTSW |
16 |
18,359,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9593:Gnb1l
|
UTSW |
16 |
18,362,914 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGCGTCAGCCATCAGTTCC -3'
(R):5'- AGACCTGTCTCAGAGCACCAAAGG -3'
Sequencing Primer
(F):5'- AGCTGAAGTATCTTCATCCACGG -3'
(R):5'- GAGTCATCTACTTCCCAAAGGCTG -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation