Incidental Mutation 'R6908:Ralgps1'
| ID |
538848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ralgps1
|
| Ensembl Gene |
ENSMUSG00000038831 |
| Gene Name |
Ral GEF with PH domain and SH3 binding motif 1 |
| Synonyms |
RALGPS1A, RALGEF2, 5830418G11Rik |
| MMRRC Submission |
045000-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R6908 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
33023429-33261498 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33033112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 439
(Q439R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042615]
[ENSMUST00000091039]
[ENSMUST00000113165]
[ENSMUST00000131298]
|
| AlphaFold |
A2AR50 |
| PDB Structure |
Crystal structure of MS0666 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042615
AA Change: Q439R
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831
AA Change: Q439R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
|
RasGEF
|
46 |
273 |
4.59e-86 |
SMART |
|
low complexity region
|
286 |
301 |
N/A |
INTRINSIC |
|
PH
|
372 |
485 |
1.87e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091039
AA Change: Q527R
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831
AA Change: Q527R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
|
RasGEF
|
46 |
290 |
7.54e-105 |
SMART |
|
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
411 |
N/A |
INTRINSIC |
|
PH
|
460 |
573 |
1.87e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113165
AA Change: Q499R
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831
AA Change: Q499R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
|
RasGEF
|
46 |
290 |
7.54e-105 |
SMART |
|
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
411 |
N/A |
INTRINSIC |
|
PH
|
459 |
572 |
1.87e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131298
AA Change: Q457R
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831
AA Change: Q457R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
26 |
N/A |
INTRINSIC |
|
RasGEF
|
46 |
290 |
7.54e-105 |
SMART |
|
low complexity region
|
303 |
318 |
N/A |
INTRINSIC |
|
PH
|
390 |
503 |
1.87e-13 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
95% (52/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
C |
16: 56,477,668 (GRCm39) |
I1197T |
probably benign |
Het |
| Atp2a1 |
A |
G |
7: 126,047,707 (GRCm39) |
|
probably null |
Het |
| B3glct |
T |
C |
5: 149,619,941 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
T |
G |
9: 22,479,019 (GRCm39) |
I154S |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 85,968,710 (GRCm39) |
Y825C |
probably damaging |
Het |
| Ccdc186 |
A |
T |
19: 56,780,371 (GRCm39) |
|
probably null |
Het |
| Celf6 |
T |
C |
9: 59,511,106 (GRCm39) |
V349A |
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,683,044 (GRCm39) |
T495A |
probably benign |
Het |
| Cxxc1 |
G |
A |
18: 74,353,630 (GRCm39) |
C546Y |
probably damaging |
Het |
| Cxxc5 |
T |
C |
18: 35,992,268 (GRCm39) |
V223A |
probably damaging |
Het |
| Dlc1 |
A |
G |
8: 37,404,841 (GRCm39) |
F316S |
probably benign |
Het |
| Dnajc12 |
C |
A |
10: 63,233,104 (GRCm39) |
Q82K |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,165,746 (GRCm39) |
E1877K |
probably damaging |
Het |
| Epha3 |
T |
G |
16: 63,418,612 (GRCm39) |
H611P |
probably damaging |
Het |
| Fpr-rs6 |
C |
A |
17: 20,402,701 (GRCm39) |
C220F |
probably damaging |
Het |
| Fryl |
A |
G |
5: 73,179,554 (GRCm39) |
L2951P |
probably damaging |
Het |
| Gbp10 |
T |
G |
5: 105,368,898 (GRCm39) |
T314P |
probably damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,476,741 (GRCm39) |
N77D |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,456,531 (GRCm39) |
D438E |
probably damaging |
Het |
| Itgb6 |
C |
T |
2: 60,480,365 (GRCm39) |
V324M |
probably benign |
Het |
| Kdm7a |
G |
T |
6: 39,121,373 (GRCm39) |
L861M |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,924,697 (GRCm39) |
T302A |
possibly damaging |
Het |
| Lama2 |
A |
T |
10: 26,907,192 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
A |
T |
2: 69,302,709 (GRCm39) |
C3007S |
probably damaging |
Het |
| Lypd3 |
G |
C |
7: 24,337,858 (GRCm39) |
G75R |
probably damaging |
Het |
| Mastl |
T |
C |
2: 23,045,988 (GRCm39) |
|
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,068,919 (GRCm39) |
V1087A |
probably benign |
Het |
| Mcmdc2 |
C |
A |
1: 10,001,003 (GRCm39) |
|
probably null |
Het |
| Ms4a3 |
A |
G |
19: 11,615,659 (GRCm39) |
I39T |
probably damaging |
Het |
| Mylk |
T |
G |
16: 34,700,643 (GRCm39) |
C495G |
probably benign |
Het |
| Myo10 |
A |
G |
15: 25,804,469 (GRCm39) |
D1588G |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,396,832 (GRCm39) |
T2634S |
probably damaging |
Het |
| Nlrp1b |
T |
C |
11: 71,108,122 (GRCm39) |
I460V |
probably benign |
Het |
| Nmt1 |
T |
G |
11: 102,949,080 (GRCm39) |
S312A |
possibly damaging |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or2d4 |
T |
C |
7: 106,543,839 (GRCm39) |
Y123C |
possibly damaging |
Het |
| Paxip1 |
T |
C |
5: 27,996,222 (GRCm39) |
Y19C |
possibly damaging |
Het |
| Pcdhb2 |
G |
T |
18: 37,429,577 (GRCm39) |
A517S |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,140,885 (GRCm39) |
I559T |
probably damaging |
Het |
| Plec |
G |
A |
15: 76,070,081 (GRCm39) |
Q806* |
probably null |
Het |
| Prss51 |
C |
T |
14: 64,333,601 (GRCm39) |
A70V |
probably benign |
Het |
| Psd3 |
A |
T |
8: 68,416,829 (GRCm39) |
I356K |
probably benign |
Het |
| Ptprn2 |
A |
T |
12: 116,852,508 (GRCm39) |
I522F |
probably benign |
Het |
| Rab39 |
T |
C |
9: 53,617,369 (GRCm39) |
D16G |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 79,011,370 (GRCm39) |
D238E |
probably benign |
Het |
| Ripor2 |
G |
A |
13: 24,890,215 (GRCm39) |
G697S |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,621,492 (GRCm39) |
F642I |
probably damaging |
Het |
| Serinc4 |
G |
A |
2: 121,284,086 (GRCm39) |
T310I |
probably benign |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Slc36a3 |
T |
C |
11: 55,040,712 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
A |
G |
15: 84,991,211 (GRCm39) |
S656P |
probably damaging |
Het |
| Sorbs1 |
A |
G |
19: 40,340,776 (GRCm39) |
S455P |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,720,202 (GRCm39) |
|
probably benign |
Het |
| Tyw5 |
T |
C |
1: 57,440,682 (GRCm39) |
R27G |
probably damaging |
Het |
| Vmn1r209 |
T |
C |
13: 22,990,400 (GRCm39) |
T97A |
possibly damaging |
Het |
|
| Other mutations in Ralgps1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Ralgps1
|
APN |
2 |
33,027,694 (GRCm39) |
makesense |
probably null |
|
|
IGL00780:Ralgps1
|
APN |
2 |
33,163,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00951:Ralgps1
|
APN |
2 |
33,163,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01358:Ralgps1
|
APN |
2 |
33,033,061 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
IGL02346:Ralgps1
|
APN |
2 |
33,047,782 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02481:Ralgps1
|
APN |
2 |
33,230,741 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03281:Ralgps1
|
APN |
2 |
33,062,428 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03284:Ralgps1
|
APN |
2 |
33,036,577 (GRCm39) |
splice site |
probably benign |
|
|
IGL03377:Ralgps1
|
APN |
2 |
33,062,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0007:Ralgps1
|
UTSW |
2 |
33,033,401 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0029:Ralgps1
|
UTSW |
2 |
33,031,031 (GRCm39) |
missense |
probably benign |
|
|
R0309:Ralgps1
|
UTSW |
2 |
33,047,935 (GRCm39) |
missense |
probably benign |
|
|
R0320:Ralgps1
|
UTSW |
2 |
33,031,027 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0622:Ralgps1
|
UTSW |
2 |
33,064,459 (GRCm39) |
nonsense |
probably null |
|
|
R1277:Ralgps1
|
UTSW |
2 |
33,064,437 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R1797:Ralgps1
|
UTSW |
2 |
33,230,723 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2921:Ralgps1
|
UTSW |
2 |
33,033,082 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3123:Ralgps1
|
UTSW |
2 |
33,048,968 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3124:Ralgps1
|
UTSW |
2 |
33,048,968 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4741:Ralgps1
|
UTSW |
2 |
33,226,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4894:Ralgps1
|
UTSW |
2 |
33,033,115 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5148:Ralgps1
|
UTSW |
2 |
33,048,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5255:Ralgps1
|
UTSW |
2 |
33,166,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5877:Ralgps1
|
UTSW |
2 |
33,133,640 (GRCm39) |
unclassified |
probably benign |
|
|
R6330:Ralgps1
|
UTSW |
2 |
33,064,455 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7252:Ralgps1
|
UTSW |
2 |
33,058,200 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7299:Ralgps1
|
UTSW |
2 |
33,047,885 (GRCm39) |
missense |
probably benign |
|
|
R7366:Ralgps1
|
UTSW |
2 |
33,214,700 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7973:Ralgps1
|
UTSW |
2 |
33,036,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8422:Ralgps1
|
UTSW |
2 |
33,062,442 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8513:Ralgps1
|
UTSW |
2 |
33,226,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8710:Ralgps1
|
UTSW |
2 |
33,035,433 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8733:Ralgps1
|
UTSW |
2 |
33,174,836 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8841:Ralgps1
|
UTSW |
2 |
33,045,329 (GRCm39) |
missense |
probably benign |
|
|
R9261:Ralgps1
|
UTSW |
2 |
33,226,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9728:Ralgps1
|
UTSW |
2 |
33,163,626 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAAGACTGGGTGCCATGC -3'
(R):5'- AAGTCTTTGCGGGGTACAGAC -3'
Sequencing Primer
(F):5'- TGGGTGCCATGCAAACCTAG -3'
(R):5'- TAAGTCCTCTGAAAAGGCTGCCTG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation