Incidental Mutation 'R9322:Arhgef33'
| ID |
706290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Arhgef33
|
| Ensembl Gene |
ENSMUSG00000054901 |
| Gene Name |
Rho guanine nucleotide exchange factor 33 |
| Synonyms |
LOC381112, Gm941 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R9322 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
80614836-80707510 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 80677818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 455
(L455*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063284
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068175]
[ENSMUST00000086549]
[ENSMUST00000223878]
[ENSMUST00000224966]
[ENSMUST00000225223]
[ENSMUST00000225548]
[ENSMUST00000225658]
|
| AlphaFold |
Q8BW86 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000068175
AA Change: L455*
|
| SMART Domains |
Protein: ENSMUSP00000063284
Gene: ENSMUSG00000054901
AA Change: L455*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
64 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
129 |
149 |
N/A |
INTRINSIC |
|
Pfam:RhoGEF
|
277 |
446 |
4.7e-16 |
PFAM |
|
low complexity region
|
455 |
473 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
520 |
N/A |
INTRINSIC |
|
low complexity region
|
620 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
770 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
834 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086549
|
| SMART Domains |
Protein: ENSMUSP00000083736
Gene: ENSMUSG00000066938
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
72 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
84 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000223878
AA Change: L455*
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224966
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225223
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225548
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225658
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
A |
G |
11: 110,192,331 (GRCm39) |
V727A |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,397,929 (GRCm39) |
S591P |
probably benign |
Het |
| Asic4 |
A |
G |
1: 75,446,462 (GRCm39) |
M335V |
probably benign |
Het |
| Atp1a2 |
A |
G |
1: 172,107,625 (GRCm39) |
S665P |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,303,333 (GRCm39) |
N148S |
probably damaging |
Het |
| Ccdc121rt3 |
T |
A |
5: 112,503,272 (GRCm39) |
Y144F |
probably damaging |
Het |
| Ccdc9 |
T |
C |
7: 16,012,360 (GRCm39) |
D274G |
probably damaging |
Het |
| Ciao3 |
G |
C |
17: 25,998,548 (GRCm39) |
Q217H |
probably damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,978 (GRCm39) |
Y332H |
probably damaging |
Het |
| Csrnp1 |
T |
C |
9: 119,801,853 (GRCm39) |
E402G |
probably damaging |
Het |
| Dchs2 |
T |
A |
3: 83,189,001 (GRCm39) |
I1455N |
possibly damaging |
Het |
| Dnah12 |
A |
T |
14: 26,492,934 (GRCm39) |
I1232F |
possibly damaging |
Het |
| Dsn1 |
C |
T |
2: 156,843,669 (GRCm39) |
V144I |
possibly damaging |
Het |
| Efcab3 |
A |
T |
11: 104,765,199 (GRCm39) |
E2501V |
probably benign |
Het |
| Epha6 |
A |
T |
16: 60,245,118 (GRCm39) |
S360R |
probably damaging |
Het |
| Fasl |
A |
T |
1: 161,609,512 (GRCm39) |
L158Q |
probably damaging |
Het |
| Filip1 |
A |
T |
9: 79,727,014 (GRCm39) |
V535E |
probably benign |
Het |
| Fmo5 |
A |
T |
3: 97,546,190 (GRCm39) |
K168* |
probably null |
Het |
| Gm5157 |
T |
G |
7: 20,919,431 (GRCm39) |
K37N |
probably benign |
Het |
| Grm8 |
T |
A |
6: 27,363,728 (GRCm39) |
I596F |
possibly damaging |
Het |
| Il23a |
T |
C |
10: 128,132,990 (GRCm39) |
E123G |
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,226,587 (GRCm39) |
T1386A |
probably benign |
Het |
| Krt79 |
T |
A |
15: 101,840,245 (GRCm39) |
Q317L |
possibly damaging |
Het |
| Lhx4 |
A |
G |
1: 155,578,353 (GRCm39) |
I263T |
probably benign |
Het |
| Med4 |
T |
C |
14: 73,747,601 (GRCm39) |
L34P |
probably damaging |
Het |
| Mid1 |
C |
G |
X: 168,768,003 (GRCm39) |
P384A |
probably benign |
Het |
| Mief2 |
A |
T |
11: 60,621,844 (GRCm39) |
H138L |
possibly damaging |
Het |
| Nat3 |
A |
T |
8: 68,000,162 (GRCm39) |
K14* |
probably null |
Het |
| Nbeal1 |
T |
A |
1: 60,297,818 (GRCm39) |
I1216N |
possibly damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,108,118 (GRCm39) |
E461G |
probably benign |
Het |
| Or11h23 |
C |
A |
14: 50,948,507 (GRCm39) |
T240N |
probably damaging |
Het |
| Or5aq7 |
T |
C |
2: 86,938,561 (GRCm39) |
T57A |
probably damaging |
Het |
| Or5p4 |
C |
T |
7: 107,680,727 (GRCm39) |
T242M |
probably damaging |
Het |
| Pdha2 |
C |
A |
3: 140,916,550 (GRCm39) |
M319I |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,227,494 (GRCm39) |
V43A |
possibly damaging |
Het |
| Psd |
T |
A |
19: 46,301,880 (GRCm39) |
E902V |
probably damaging |
Het |
| Psme3 |
A |
C |
11: 101,211,437 (GRCm39) |
H198P |
probably damaging |
Het |
| Rlbp1 |
T |
C |
7: 79,027,003 (GRCm39) |
D219G |
possibly damaging |
Het |
| Scn1b |
C |
A |
7: 30,824,517 (GRCm39) |
W57L |
probably damaging |
Het |
| Sfrp2 |
T |
C |
3: 83,674,006 (GRCm39) |
I53T |
probably damaging |
Het |
| Skic2 |
T |
C |
17: 35,066,439 (GRCm39) |
|
probably null |
Het |
| Slc18a3 |
A |
G |
14: 32,185,282 (GRCm39) |
I367T |
probably benign |
Het |
| Slc44a2 |
A |
T |
9: 21,258,246 (GRCm39) |
R499W |
probably damaging |
Het |
| St18 |
A |
G |
1: 6,865,747 (GRCm39) |
D75G |
probably benign |
Het |
| Trim67 |
C |
A |
8: 125,549,967 (GRCm39) |
Y532* |
probably null |
Het |
| Ttc16 |
C |
T |
2: 32,664,952 (GRCm39) |
|
probably benign |
Het |
| Usp7 |
A |
T |
16: 8,517,124 (GRCm39) |
S487T |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,263,087 (GRCm39) |
T125A |
probably benign |
Het |
| Vmn2r70 |
T |
C |
7: 85,208,498 (GRCm39) |
T660A |
possibly damaging |
Het |
| Zer1 |
A |
T |
2: 30,000,923 (GRCm39) |
V166D |
probably benign |
Het |
|
| Other mutations in Arhgef33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00783:Arhgef33
|
APN |
17 |
80,675,659 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL00784:Arhgef33
|
APN |
17 |
80,675,659 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL01601:Arhgef33
|
APN |
17 |
80,655,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01647:Arhgef33
|
APN |
17 |
80,672,695 (GRCm39) |
splice site |
probably benign |
|
|
IGL02654:Arhgef33
|
APN |
17 |
80,677,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02712:Arhgef33
|
APN |
17 |
80,667,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0195:Arhgef33
|
UTSW |
17 |
80,688,863 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0732:Arhgef33
|
UTSW |
17 |
80,688,783 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0834:Arhgef33
|
UTSW |
17 |
80,655,026 (GRCm39) |
splice site |
probably benign |
|
|
R1144:Arhgef33
|
UTSW |
17 |
80,662,473 (GRCm39) |
missense |
probably benign |
|
|
R1465:Arhgef33
|
UTSW |
17 |
80,674,730 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1465:Arhgef33
|
UTSW |
17 |
80,674,730 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1513:Arhgef33
|
UTSW |
17 |
80,678,818 (GRCm39) |
missense |
probably benign |
|
|
R1680:Arhgef33
|
UTSW |
17 |
80,655,080 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1696:Arhgef33
|
UTSW |
17 |
80,656,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1775:Arhgef33
|
UTSW |
17 |
80,681,172 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2046:Arhgef33
|
UTSW |
17 |
80,680,895 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3933:Arhgef33
|
UTSW |
17 |
80,680,749 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4573:Arhgef33
|
UTSW |
17 |
80,672,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5222:Arhgef33
|
UTSW |
17 |
80,644,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5269:Arhgef33
|
UTSW |
17 |
80,677,704 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Arhgef33
|
UTSW |
17 |
80,644,709 (GRCm39) |
missense |
probably benign |
|
|
R6460:Arhgef33
|
UTSW |
17 |
80,657,018 (GRCm39) |
splice site |
probably null |
|
|
R7307:Arhgef33
|
UTSW |
17 |
80,654,549 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7594:Arhgef33
|
UTSW |
17 |
80,677,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7746:Arhgef33
|
UTSW |
17 |
80,654,549 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7895:Arhgef33
|
UTSW |
17 |
80,680,914 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7956:Arhgef33
|
UTSW |
17 |
80,662,477 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8508:Arhgef33
|
UTSW |
17 |
80,674,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8688:Arhgef33
|
UTSW |
17 |
80,680,615 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8743:Arhgef33
|
UTSW |
17 |
80,667,882 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8768:Arhgef33
|
UTSW |
17 |
80,681,148 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9349:Arhgef33
|
UTSW |
17 |
80,644,736 (GRCm39) |
nonsense |
probably null |
|
|
R9625:Arhgef33
|
UTSW |
17 |
80,654,707 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9727:Arhgef33
|
UTSW |
17 |
80,678,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Arhgef33
|
UTSW |
17 |
80,691,659 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TACAGAACTCACAGTAGCTTAAAGC -3'
(R):5'- TTTCCACTGGGCCATAGGTG -3'
Sequencing Primer
(F):5'- TCAGAAGAGGTAAAGCAACTACAGTC -3'
(R):5'- ACTGGGCCATAGGTGTGTCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation