Incidental Mutation 'IGL01838:Raly'
ID |
155037 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Raly
|
Ensembl Gene |
ENSMUSG00000027593 |
Gene Name |
hnRNP-associated with lethal yellow |
Synonyms |
Merc |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01838
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
154633016-154709181 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 154701590 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029120]
[ENSMUST00000058089]
[ENSMUST00000109701]
[ENSMUST00000116389]
[ENSMUST00000125872]
[ENSMUST00000129137]
[ENSMUST00000140713]
[ENSMUST00000137333]
|
AlphaFold |
Q64012 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029120
|
SMART Domains |
Protein: ENSMUSP00000029120 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 |
low complexity region
|
287 |
301 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000058089
|
SMART Domains |
Protein: ENSMUSP00000058105 Gene: ENSMUSG00000027593
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 benign
Transcript: ENSMUST00000109701
|
SMART Domains |
Protein: ENSMUSP00000105323 Gene: ENSMUSG00000027593
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 benign
Transcript: ENSMUST00000116389
|
SMART Domains |
Protein: ENSMUSP00000112090 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 |
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: 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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151578
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145202
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c6 |
T |
C |
13: 4,499,035 (GRCm39) |
S208P |
probably benign |
Het |
Cpe |
G |
T |
8: 65,047,998 (GRCm39) |
T422K |
possibly damaging |
Het |
Dis3l |
C |
A |
9: 64,215,581 (GRCm39) |
V888L |
probably benign |
Het |
Dnah7b |
T |
A |
1: 46,397,297 (GRCm39) |
Y3909* |
probably null |
Het |
Dnajb8 |
G |
A |
6: 88,200,033 (GRCm39) |
V190M |
possibly damaging |
Het |
Grip2 |
A |
G |
6: 91,741,744 (GRCm39) |
V927A |
possibly damaging |
Het |
Hyal3 |
C |
T |
9: 107,463,786 (GRCm39) |
R304C |
possibly damaging |
Het |
Igkv8-21 |
A |
G |
6: 70,292,009 (GRCm39) |
S78P |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,891,100 (GRCm39) |
S356P |
probably damaging |
Het |
Meiob |
T |
C |
17: 25,042,643 (GRCm39) |
V157A |
possibly damaging |
Het |
Mrpl48 |
C |
T |
7: 100,201,860 (GRCm39) |
V35M |
probably damaging |
Het |
Myo9b |
T |
C |
8: 71,787,034 (GRCm39) |
Y739H |
probably damaging |
Het |
Nfyb |
A |
G |
10: 82,586,642 (GRCm39) |
L174S |
probably benign |
Het |
Prm2 |
T |
C |
16: 10,609,672 (GRCm39) |
|
probably benign |
Het |
Prss50 |
T |
C |
9: 110,693,560 (GRCm39) |
L432P |
probably benign |
Het |
Scn11a |
A |
T |
9: 119,587,649 (GRCm39) |
M1365K |
probably damaging |
Het |
Slc28a2b |
C |
A |
2: 122,348,464 (GRCm39) |
F270L |
possibly damaging |
Het |
Spred1 |
T |
G |
2: 117,008,062 (GRCm39) |
S323A |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,121,910 (GRCm39) |
E761G |
possibly damaging |
Het |
Thbs3 |
A |
T |
3: 89,126,365 (GRCm39) |
K229* |
probably null |
Het |
Thoc1 |
G |
A |
18: 9,993,386 (GRCm39) |
G582S |
possibly damaging |
Het |
Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
Vmn2r114 |
T |
C |
17: 23,515,956 (GRCm39) |
T512A |
probably benign |
Het |
Wee1 |
T |
C |
7: 109,723,744 (GRCm39) |
S220P |
probably benign |
Het |
|
Other mutations in Raly |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R4533:Raly
|
UTSW |
2 |
154,707,853 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
|
Posted On |
2014-02-04 |