Incidental Mutation 'R1412:Raly'
| ID |
159625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Raly
|
| Ensembl Gene |
ENSMUSG00000027593 |
| Gene Name |
hnRNP-associated with lethal yellow |
| Synonyms |
Merc |
| MMRRC Submission |
039468-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1412 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
154633016-154709181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 154699315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 40
(T40A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112090
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029120]
[ENSMUST00000058089]
[ENSMUST00000109701]
[ENSMUST00000116389]
[ENSMUST00000125872]
[ENSMUST00000129137]
[ENSMUST00000137333]
[ENSMUST00000140713]
|
| AlphaFold |
Q64012 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029120
AA Change: T40A
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029120
Gene: ENSMUSG00000027593
AA Change: T40A
| 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 |
possibly damaging
Transcript: ENSMUST00000058089
AA Change: T40A
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000058105
Gene: ENSMUSG00000027593
AA Change: T40A
| 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 |
possibly damaging
Transcript: ENSMUST00000109701
AA Change: T40A
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105323
Gene: ENSMUSG00000027593
AA Change: T40A
| 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 |
possibly damaging
Transcript: ENSMUST00000116389
AA Change: T40A
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112090
Gene: ENSMUSG00000027593
AA Change: T40A
| 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
AA Change: T40A
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000119108
Gene: ENSMUSG00000027593
AA Change: T40A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
22 |
88 |
1.6e-16 |
SMART |
|
low complexity region
|
120 |
140 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129137
AA Change: T40A
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114185
Gene: ENSMUSG00000027593
AA Change: T40A
| 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 |
possibly damaging
Transcript: ENSMUST00000140713
AA Change: T40A
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119126
Gene: ENSMUSG00000027593
AA Change: T40A
| 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: ENSMUST00000145202
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151578
|
| Meta Mutation Damage Score |
0.0715 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.5%
|
| Validation Efficiency |
98% (48/49) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009A15Rik |
T |
C |
19: 8,867,359 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
C |
T |
7: 119,944,546 (GRCm39) |
R394C |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,773,414 (GRCm39) |
Q1152R |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,243,569 (GRCm39) |
G6277E |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,619,298 (GRCm39) |
N41S |
probably benign |
Het |
| Akap7 |
A |
T |
10: 25,165,495 (GRCm39) |
|
probably null |
Het |
| Arl6ip1 |
A |
G |
7: 117,719,591 (GRCm39) |
I179T |
possibly damaging |
Het |
| Atp1a4 |
C |
T |
1: 172,059,576 (GRCm39) |
D839N |
probably damaging |
Het |
| B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
| C1qtnf12 |
T |
C |
4: 156,047,190 (GRCm39) |
V52A |
probably benign |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,959 (GRCm39) |
Y257C |
probably damaging |
Het |
| Cdc123 |
A |
T |
2: 5,808,776 (GRCm39) |
D233E |
possibly damaging |
Het |
| Chdh |
G |
A |
14: 29,756,680 (GRCm39) |
E369K |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,172,695 (GRCm39) |
V491A |
probably benign |
Het |
| Focad |
T |
C |
4: 88,196,498 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
T |
C |
17: 37,365,805 (GRCm39) |
|
probably null |
Het |
| Hat1 |
G |
T |
2: 71,250,961 (GRCm39) |
E170* |
probably null |
Het |
| Hs3st5 |
A |
T |
10: 36,708,672 (GRCm39) |
H69L |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,235,196 (GRCm39) |
|
probably benign |
Het |
| Itga2b |
A |
T |
11: 102,347,831 (GRCm39) |
L890Q |
probably benign |
Het |
| Or52e8b |
A |
G |
7: 104,673,402 (GRCm39) |
F262L |
probably damaging |
Het |
| Or7d11 |
C |
G |
9: 19,966,711 (GRCm39) |
G16A |
possibly damaging |
Het |
| Parp10 |
A |
G |
15: 76,127,284 (GRCm39) |
L51P |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,883,301 (GRCm39) |
T108A |
probably damaging |
Het |
| Pdlim2 |
A |
T |
14: 70,411,773 (GRCm39) |
|
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,241,989 (GRCm39) |
V243A |
possibly damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,239,804 (GRCm39) |
|
probably null |
Het |
| Rasgrp3 |
G |
T |
17: 75,816,822 (GRCm39) |
|
probably null |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Smim22 |
G |
C |
16: 4,825,649 (GRCm39) |
E11D |
possibly damaging |
Het |
| Socs2 |
T |
C |
10: 95,250,780 (GRCm39) |
S18G |
probably benign |
Het |
| Srgap2 |
T |
C |
1: 131,228,151 (GRCm39) |
E720G |
possibly damaging |
Het |
| Tas2r135 |
A |
G |
6: 42,382,768 (GRCm39) |
I102M |
probably benign |
Het |
| Tex19.2 |
A |
G |
11: 121,007,761 (GRCm39) |
V229A |
possibly damaging |
Het |
| Vmn1r234 |
T |
A |
17: 21,449,512 (GRCm39) |
I142N |
probably benign |
Het |
| Vps35l |
A |
T |
7: 118,409,194 (GRCm39) |
I612F |
probably damaging |
Het |
| Vwa3a |
C |
T |
7: 120,379,377 (GRCm39) |
T494I |
probably damaging |
Het |
| Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,641,199 (GRCm39) |
D1166G |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAACGGAACTGAGCCTAGCCTG -3'
(R):5'- TGGAGGCCAGTGGGAAACGTTATC -3'
Sequencing Primer
(F):5'- GGGAACCCAGTTTCACATTG -3'
(R):5'- cttggctcaccccgaac -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation