Incidental Mutation 'R4533:Raly'
| ID |
333185 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Raly
|
| Ensembl Gene |
ENSMUSG00000027593 |
| Gene Name |
hnRNP-associated with lethal yellow |
| Synonyms |
Merc |
| MMRRC Submission |
041773-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4533 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
154633016-154709181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 154707853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 291
(E291V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029120]
[ENSMUST00000058089]
[ENSMUST00000109701]
[ENSMUST00000116389]
[ENSMUST00000125872]
[ENSMUST00000129137]
[ENSMUST00000137333]
[ENSMUST00000140713]
|
| AlphaFold |
Q64012 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029120
AA Change: E307V
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029120
Gene: ENSMUSG00000027593
AA Change: E307V
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
22 |
88 |
4.01e-14 |
SMART |
|
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
301 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058089
AA Change: E291V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058105
Gene: ENSMUSG00000027593
AA Change: E291V
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
22 |
88 |
4.01e-14 |
SMART |
|
low complexity region
|
117 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
285 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109701
AA Change: E291V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105323
Gene: ENSMUSG00000027593
AA Change: E291V
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
22 |
88 |
4.01e-14 |
SMART |
|
low complexity region
|
117 |
144 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
243 |
N/A |
INTRINSIC |
|
low complexity region
|
271 |
285 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116389
AA Change: E307V
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112090
Gene: ENSMUSG00000027593
AA Change: E307V
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
22 |
88 |
4.01e-14 |
SMART |
|
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
259 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
301 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125872
|
| SMART Domains |
Protein: ENSMUSP00000119108
Gene: ENSMUSG00000027593
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
22 |
88 |
1.6e-16 |
SMART |
|
low complexity region
|
120 |
140 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129137
|
| SMART Domains |
Protein: ENSMUSP00000114185
Gene: ENSMUSG00000027593
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
22 |
88 |
1.6e-16 |
SMART |
|
low complexity region
|
117 |
144 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137333
|
| SMART Domains |
Protein: ENSMUSP00000122261
Gene: ENSMUSG00000027596
| Domain | Start | End | E-Value | Type |
|---|
|
Agouti
|
6 |
70 |
2.53e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140713
|
| SMART Domains |
Protein: ENSMUSP00000119126
Gene: ENSMUSG00000027593
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
22 |
88 |
4.01e-14 |
SMART |
|
low complexity region
|
109 |
123 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
227 |
259 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) gene family. This protein may play a role in pre-mRNA splicing and in embryonic development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a gene trap allele are viable. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
G |
9: 90,062,761 (GRCm39) |
Y405C |
probably damaging |
Het |
| Ago3 |
A |
T |
4: 126,239,356 (GRCm39) |
S832T |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,093,948 (GRCm39) |
F2157I |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,929,798 (GRCm39) |
E561G |
possibly damaging |
Het |
| Art5 |
T |
C |
7: 101,747,545 (GRCm39) |
H78R |
probably benign |
Het |
| Blvra |
T |
A |
2: 126,932,304 (GRCm39) |
|
probably null |
Het |
| Ccdc171 |
A |
G |
4: 83,575,579 (GRCm39) |
T488A |
possibly damaging |
Het |
| Crtc3 |
A |
T |
7: 80,239,543 (GRCm39) |
M603K |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 15,981,037 (GRCm39) |
|
probably null |
Het |
| Dbh |
C |
A |
2: 27,067,343 (GRCm39) |
H409Q |
possibly damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,747 (GRCm39) |
Y582C |
probably damaging |
Het |
| Gm12185 |
T |
C |
11: 48,798,921 (GRCm39) |
N524S |
possibly damaging |
Het |
| Gm7356 |
A |
C |
17: 14,221,672 (GRCm39) |
I119R |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,449,392 (GRCm39) |
D1963E |
probably benign |
Het |
| Ighv1-37 |
A |
T |
12: 114,860,147 (GRCm39) |
V21D |
probably damaging |
Het |
| Itga3 |
T |
G |
11: 94,948,119 (GRCm39) |
Q602P |
probably benign |
Het |
| Kcmf1 |
G |
A |
6: 72,826,574 (GRCm39) |
R152C |
probably damaging |
Het |
| Lin54 |
T |
C |
5: 100,633,262 (GRCm39) |
I141V |
possibly damaging |
Het |
| Mast1 |
T |
A |
8: 85,647,990 (GRCm39) |
H497L |
probably damaging |
Het |
| Mrpl44 |
T |
C |
1: 79,753,971 (GRCm39) |
F41S |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,840,891 (GRCm39) |
R2301G |
probably damaging |
Het |
| Nek1 |
A |
T |
8: 61,460,247 (GRCm39) |
M58L |
possibly damaging |
Het |
| Or4k15c |
T |
C |
14: 50,321,156 (GRCm39) |
|
probably null |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| P3h3 |
A |
G |
6: 124,831,371 (GRCm39) |
V338A |
possibly damaging |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Pcdha7 |
T |
C |
18: 37,108,460 (GRCm39) |
V495A |
possibly damaging |
Het |
| Plcb3 |
T |
C |
19: 6,933,640 (GRCm39) |
E895G |
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,516,057 (GRCm39) |
E770G |
probably damaging |
Het |
| Ptchd3 |
C |
T |
11: 121,727,257 (GRCm39) |
S377F |
probably damaging |
Het |
| Ptprj |
C |
T |
2: 90,270,299 (GRCm39) |
D1266N |
probably damaging |
Het |
| Rnf217 |
C |
A |
10: 31,484,759 (GRCm39) |
C141F |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,083,714 (GRCm39) |
M914V |
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,997,547 (GRCm39) |
T1035A |
probably damaging |
Het |
| Tex14 |
C |
T |
11: 87,427,655 (GRCm39) |
R36* |
probably null |
Het |
| Tiparp |
A |
G |
3: 65,453,768 (GRCm39) |
D172G |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
A |
T |
1: 169,970,994 (GRCm39) |
I466N |
probably damaging |
Het |
| Ubr1 |
T |
C |
2: 120,772,963 (GRCm39) |
T426A |
possibly damaging |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,756 (GRCm39) |
H177Q |
probably benign |
Het |
| Vmn2r72 |
T |
A |
7: 85,401,134 (GRCm39) |
H95L |
probably benign |
Het |
| Vwc2l |
G |
A |
1: 70,921,298 (GRCm39) |
C151Y |
probably damaging |
Het |
| Wdr12 |
T |
C |
1: 60,117,354 (GRCm39) |
Y414C |
probably benign |
Het |
| Zfp609 |
A |
C |
9: 65,610,890 (GRCm39) |
V691G |
probably benign |
Het |
| Zmiz1 |
T |
C |
14: 25,646,084 (GRCm39) |
Y254H |
probably damaging |
Het |
|
| Other mutations in Raly |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01838:Raly
|
APN |
2 |
154,701,590 (GRCm39) |
splice site |
probably benign |
|
|
IGL02164:Raly
|
APN |
2 |
154,701,849 (GRCm39) |
nonsense |
probably null |
|
|
R0227:Raly
|
UTSW |
2 |
154,707,841 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1412:Raly
|
UTSW |
2 |
154,699,315 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1416:Raly
|
UTSW |
2 |
154,699,273 (GRCm39) |
nonsense |
probably null |
|
|
R2247:Raly
|
UTSW |
2 |
154,705,953 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4110:Raly
|
UTSW |
2 |
154,699,378 (GRCm39) |
nonsense |
probably null |
|
|
R4654:Raly
|
UTSW |
2 |
154,699,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4866:Raly
|
UTSW |
2 |
154,703,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5395:Raly
|
UTSW |
2 |
154,705,927 (GRCm39) |
splice site |
probably null |
|
|
R6254:Raly
|
UTSW |
2 |
154,699,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6887:Raly
|
UTSW |
2 |
154,703,830 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7069:Raly
|
UTSW |
2 |
154,701,664 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7117:Raly
|
UTSW |
2 |
154,699,432 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7289:Raly
|
UTSW |
2 |
154,703,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7311:Raly
|
UTSW |
2 |
154,699,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8900:Raly
|
UTSW |
2 |
154,705,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9117:Raly
|
UTSW |
2 |
154,703,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9546:Raly
|
UTSW |
2 |
154,705,754 (GRCm39) |
small deletion |
probably benign |
|
|
R9550:Raly
|
UTSW |
2 |
154,705,754 (GRCm39) |
small deletion |
probably benign |
|
|
R9781:Raly
|
UTSW |
2 |
154,699,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGATCTTCAAATGACCCTCTCG -3'
(R):5'- AGTCATTCGTTCACAAGAGAACC -3'
Sequencing Primer
(F):5'- CTCTCGGGATTCTAAGCCAG -3'
(R):5'- CGTTCACAAGAGAACCTTTTCTAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation