Incidental Mutation 'R2247:Raly'
| ID |
240885 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Raly
|
| Ensembl Gene |
ENSMUSG00000027593 |
| Gene Name |
hnRNP-associated with lethal yellow |
| Synonyms |
Merc |
| MMRRC Submission |
040247-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2247 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154633016-154709181 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 154705953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 277
(H277R)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000029120
AA Change: H293R
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029120
Gene: ENSMUSG00000027593
AA Change: H293R
| 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: H277R
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000058105
Gene: ENSMUSG00000027593
AA Change: H277R
| 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: H277R
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105323
Gene: ENSMUSG00000027593
AA Change: H277R
| 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: H293R
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112090
Gene: ENSMUSG00000027593
AA Change: H293R
| 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 |
possibly damaging
Transcript: ENSMUST00000140713
AA Change: H293R
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119126
Gene: ENSMUSG00000027593
AA Change: H293R
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg3 |
A |
G |
17: 57,184,435 (GRCm39) |
E70G |
possibly damaging |
Het |
| Ash1l |
C |
A |
3: 88,914,674 (GRCm39) |
P1768Q |
possibly damaging |
Het |
| Bicra |
C |
A |
7: 15,723,159 (GRCm39) |
E119D |
probably benign |
Het |
| Brd2 |
A |
G |
17: 34,333,389 (GRCm39) |
F421L |
probably damaging |
Het |
| Cspp1 |
A |
T |
1: 10,136,685 (GRCm39) |
Q182L |
possibly damaging |
Het |
| Dnah7b |
A |
G |
1: 46,316,223 (GRCm39) |
D3112G |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,168,369 (GRCm39) |
I697F |
probably damaging |
Het |
| Ephb1 |
A |
T |
9: 101,874,010 (GRCm39) |
S555T |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,946,198 (GRCm39) |
D1697V |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,088,627 (GRCm39) |
K1160R |
probably damaging |
Het |
| Jak2 |
T |
C |
19: 29,261,036 (GRCm39) |
V344A |
probably benign |
Het |
| Kcnab3 |
A |
G |
11: 69,221,016 (GRCm39) |
T168A |
probably damaging |
Het |
| Kctd18 |
A |
T |
1: 58,006,801 (GRCm39) |
H16Q |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myh11 |
A |
G |
16: 14,095,423 (GRCm39) |
L113P |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,225,384 (GRCm39) |
I250F |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,101,319 (GRCm39) |
Y426C |
probably damaging |
Het |
| Or10ab4 |
C |
T |
7: 107,654,989 (GRCm39) |
R267C |
probably benign |
Het |
| Or51ab3 |
T |
A |
7: 103,201,097 (GRCm39) |
|
probably null |
Het |
| Pbrm1 |
A |
G |
14: 30,796,850 (GRCm39) |
H897R |
probably damaging |
Het |
| Pgap4 |
T |
C |
4: 49,586,209 (GRCm39) |
S320G |
probably benign |
Het |
| Plcl2 |
T |
C |
17: 50,913,873 (GRCm39) |
V294A |
probably damaging |
Het |
| Psapl1 |
A |
G |
5: 36,362,410 (GRCm39) |
E334G |
probably benign |
Het |
| Pwwp3a |
A |
G |
10: 80,076,259 (GRCm39) |
Y483C |
probably damaging |
Het |
| Ranbp9 |
T |
C |
13: 43,565,901 (GRCm39) |
K462E |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,304,136 (GRCm39) |
T490A |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,561,413 (GRCm39) |
H142R |
possibly damaging |
Het |
| Scart2 |
G |
A |
7: 139,829,042 (GRCm39) |
G234S |
probably null |
Het |
| Shisa3 |
G |
A |
5: 67,768,666 (GRCm39) |
V189M |
probably benign |
Het |
| Slc25a36 |
A |
T |
9: 96,982,191 (GRCm39) |
L28Q |
probably damaging |
Het |
| Slc38a8 |
A |
G |
8: 120,212,389 (GRCm39) |
M318T |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,529,721 (GRCm39) |
M328K |
probably benign |
Het |
| Sp2 |
A |
C |
11: 96,852,844 (GRCm39) |
|
probably null |
Het |
| Sult2b1 |
A |
T |
7: 45,384,734 (GRCm39) |
I114N |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,900,202 (GRCm39) |
S803P |
probably damaging |
Het |
| Tenm4 |
T |
A |
7: 96,555,216 (GRCm39) |
D2603E |
probably benign |
Het |
| Tnfaip8 |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
18: 50,179,912 (GRCm39) |
|
probably null |
Het |
| Zfp189 |
T |
A |
4: 49,530,393 (GRCm39) |
C499S |
possibly damaging |
Het |
| Zfp236 |
A |
G |
18: 82,622,423 (GRCm39) |
F1621S |
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 |
|
R1412:Raly
|
UTSW |
2 |
154,699,315 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1416:Raly
|
UTSW |
2 |
154,699,273 (GRCm39) |
nonsense |
probably null |
|
|
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'- TGCCCCAGCTGAAGTTTGTC -3'
(R):5'- GGGCTTCATATCAGCGACTC -3'
Sequencing Primer
(F):5'- TTATCCTTCAAGATGGCAAGAAGAAG -3'
(R):5'- GCTTCATATCAGCGACTCAAACAGTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation