Incidental Mutation 'R9550:Raly'
| ID |
720419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Raly
|
| Ensembl Gene |
ENSMUSG00000027593 |
| Gene Name |
hnRNP-associated with lethal yellow |
| Synonyms |
Merc |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9550 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
154633016-154709181 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (7 aa in frame mutation) |
| DNA Base Change (assembly) |
AGCAGCAGTGGTGGAGGAGGAGGCAGCAGTGGTGGAGG to AGCAGCAGTGGTGGAGG
at 154705754 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]
[ENSMUST00000137333]
[ENSMUST00000140713]
|
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 99.1%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
G |
8: 44,022,120 (GRCm39) |
C457R |
probably damaging |
Het |
| Adamts9 |
A |
T |
6: 92,878,429 (GRCm39) |
V546E |
probably benign |
Het |
| Add3 |
G |
A |
19: 53,233,521 (GRCm39) |
E641K |
possibly damaging |
Het |
| Anks1b |
T |
A |
10: 90,412,360 (GRCm39) |
M1K |
probably null |
Het |
| C1s2 |
G |
A |
6: 124,605,253 (GRCm39) |
Q361* |
probably null |
Het |
| Casp4 |
T |
C |
9: 5,328,465 (GRCm39) |
S316P |
probably damaging |
Het |
| Cby2 |
A |
G |
14: 75,820,603 (GRCm39) |
V374A |
probably damaging |
Het |
| Cdyl |
A |
G |
13: 36,000,147 (GRCm39) |
T143A |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,858,598 (GRCm39) |
T760A |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,119,439 (GRCm39) |
L1035P |
probably damaging |
Het |
| Cpne8 |
T |
C |
15: 90,453,760 (GRCm39) |
I208V |
probably benign |
Het |
| Cux1 |
A |
G |
5: 136,340,387 (GRCm39) |
L641P |
probably damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,093,902 (GRCm39) |
M741K |
possibly damaging |
Het |
| Dnajc16 |
T |
C |
4: 141,495,058 (GRCm39) |
Y518C |
possibly damaging |
Het |
| Dtnb |
A |
G |
12: 3,768,437 (GRCm39) |
N343D |
possibly damaging |
Het |
| Dusp3 |
A |
T |
11: 101,872,668 (GRCm39) |
S43T |
probably benign |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Espn |
C |
T |
4: 152,215,534 (GRCm39) |
R575H |
probably damaging |
Het |
| Gls |
A |
T |
1: 52,251,373 (GRCm39) |
L328* |
probably null |
Het |
| H2-T23 |
T |
C |
17: 36,342,712 (GRCm39) |
D142G |
probably damaging |
Het |
| Hck |
A |
G |
2: 152,976,651 (GRCm39) |
M262V |
probably benign |
Het |
| Igkv14-126 |
G |
T |
6: 67,873,199 (GRCm39) |
L13F |
possibly damaging |
Het |
| Muc2 |
C |
T |
7: 141,308,242 (GRCm39) |
R913C |
probably damaging |
Het |
| Mypop |
A |
T |
7: 18,726,245 (GRCm39) |
T71S |
probably damaging |
Het |
| Nadsyn1 |
A |
G |
7: 143,353,615 (GRCm39) |
I536T |
probably damaging |
Het |
| Obsl1 |
T |
C |
1: 75,474,910 (GRCm39) |
E830G |
possibly damaging |
Het |
| Or1q1 |
T |
A |
2: 36,887,137 (GRCm39) |
I105N |
probably damaging |
Het |
| Or8d2b |
T |
C |
9: 38,788,937 (GRCm39) |
V155A |
probably benign |
Het |
| Pcdha8 |
A |
T |
18: 37,127,399 (GRCm39) |
Y627F |
possibly damaging |
Het |
| Polr1b |
T |
A |
2: 128,962,205 (GRCm39) |
S742R |
unknown |
Het |
| Ppm1e |
A |
T |
11: 87,121,919 (GRCm39) |
N679K |
probably benign |
Het |
| Rgs12 |
G |
T |
5: 35,196,665 (GRCm39) |
G1430C |
probably damaging |
Het |
| Rhcg |
T |
C |
7: 79,248,296 (GRCm39) |
Y436C |
probably damaging |
Het |
| Ripor3 |
T |
C |
2: 167,822,807 (GRCm39) |
D918G |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,003,620 (GRCm39) |
F1897L |
probably damaging |
Het |
| Sin3a |
T |
C |
9: 56,996,768 (GRCm39) |
V99A |
probably benign |
Het |
| Slc22a29 |
A |
T |
19: 8,195,224 (GRCm39) |
L137* |
probably null |
Het |
| Sufu |
A |
G |
19: 46,385,675 (GRCm39) |
Y45C |
probably damaging |
Het |
| Thsd1 |
C |
T |
8: 22,733,026 (GRCm39) |
|
probably benign |
Het |
| Tiam2 |
T |
A |
17: 3,559,706 (GRCm39) |
L1249Q |
probably damaging |
Het |
| Toe1 |
C |
T |
4: 116,661,916 (GRCm39) |
V418M |
probably benign |
Het |
| Trappc12 |
T |
C |
12: 28,761,985 (GRCm39) |
|
probably null |
Het |
| Triobp |
A |
G |
15: 78,858,077 (GRCm39) |
D1226G |
probably damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,464,572 (GRCm39) |
S1602P |
probably damaging |
Het |
| Zfp266 |
T |
C |
9: 20,410,482 (GRCm39) |
K565R |
probably damaging |
Het |
| Zfp319 |
T |
C |
8: 96,055,025 (GRCm39) |
T393A |
probably benign |
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 |
|
|
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 |
|
|
R9781:Raly
|
UTSW |
2 |
154,699,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACATCGATGCCCTGTTGG -3'
(R):5'- ACCATCATCTCGAGTTTGGAC -3'
Sequencing Primer
(F):5'- CGCTTGGAACAGATTGCTGAG -3'
(R):5'- ATCTCGAGTTTGGACTTCTCCTTGG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation