Incidental Mutation 'R2315:Gm13941'
| ID |
245448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm13941
|
| Ensembl Gene |
ENSMUSG00000079170 |
| Gene Name |
predicted gene 13941 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R2315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
110885009-110935204 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 110935162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 23
(S23P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115383
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000127918]
|
| AlphaFold |
A2AJ38 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000127918
AA Change: S23P
|
| SMART Domains |
Protein: ENSMUSP00000115383
Gene: ENSMUSG00000079170
AA Change: S23P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
225 |
244 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cnot1 |
C |
T |
8: 96,475,690 (GRCm39) |
G995R |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,450,735 (GRCm39) |
T547A |
probably benign |
Het |
| Ddx20 |
A |
G |
3: 105,586,015 (GRCm39) |
Y777H |
probably damaging |
Het |
| Fbxo32 |
T |
C |
15: 58,071,431 (GRCm39) |
N50S |
probably benign |
Het |
| Fsip2 |
G |
C |
2: 82,805,437 (GRCm39) |
M585I |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Hoxa2 |
A |
G |
6: 52,139,871 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,124,676 (GRCm39) |
I562V |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,908,999 (GRCm39) |
L179M |
probably damaging |
Het |
| Myl3 |
T |
C |
9: 110,595,809 (GRCm39) |
L102P |
probably damaging |
Het |
| Pag1 |
C |
T |
3: 9,764,824 (GRCm39) |
V110I |
probably damaging |
Het |
| Scube2 |
A |
G |
7: 109,403,908 (GRCm39) |
F861L |
probably damaging |
Het |
| Serpina3n |
A |
T |
12: 104,378,627 (GRCm39) |
I316F |
possibly damaging |
Het |
| Sez6l |
A |
G |
5: 112,612,463 (GRCm39) |
S493P |
probably benign |
Het |
| Sult1c2 |
T |
A |
17: 54,145,521 (GRCm39) |
T52S |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Vmn2r17 |
A |
C |
5: 109,575,897 (GRCm39) |
D256A |
probably damaging |
Het |
| Xylb |
T |
C |
9: 119,188,335 (GRCm39) |
F47S |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,680,067 (GRCm39) |
D532G |
possibly damaging |
Het |
|
| Other mutations in Gm13941 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Gm13941
|
APN |
2 |
110,935,198 (GRCm39) |
missense |
unknown |
|
|
IGL00420:Gm13941
|
APN |
2 |
110,922,193 (GRCm39) |
splice site |
probably benign |
|
|
IGL01149:Gm13941
|
APN |
2 |
110,931,482 (GRCm39) |
missense |
unknown |
|
|
IGL01319:Gm13941
|
APN |
2 |
110,925,150 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02557:Gm13941
|
APN |
2 |
110,931,501 (GRCm39) |
missense |
unknown |
|
|
IGL03163:Gm13941
|
APN |
2 |
110,928,761 (GRCm39) |
missense |
unknown |
|
|
R0067:Gm13941
|
UTSW |
2 |
110,889,761 (GRCm39) |
unclassified |
noncoding transcript |
|
|
R0918:Gm13941
|
UTSW |
2 |
110,930,945 (GRCm39) |
missense |
unknown |
|
|
R3847:Gm13941
|
UTSW |
2 |
110,935,198 (GRCm39) |
missense |
unknown |
|
|
R3848:Gm13941
|
UTSW |
2 |
110,935,198 (GRCm39) |
missense |
unknown |
|
|
R5416:Gm13941
|
UTSW |
2 |
110,925,079 (GRCm39) |
missense |
unknown |
|
|
R5574:Gm13941
|
UTSW |
2 |
110,930,951 (GRCm39) |
missense |
unknown |
|
|
R6389:Gm13941
|
UTSW |
2 |
110,928,734 (GRCm39) |
missense |
unknown |
|
|
R6616:Gm13941
|
UTSW |
2 |
110,931,520 (GRCm39) |
missense |
unknown |
|
|
R7056:Gm13941
|
UTSW |
2 |
110,927,147 (GRCm39) |
missense |
unknown |
|
|
R7455:Gm13941
|
UTSW |
2 |
110,925,085 (GRCm39) |
missense |
unknown |
|
|
R8197:Gm13941
|
UTSW |
2 |
110,926,921 (GRCm39) |
splice site |
probably null |
|
|
R9116:Gm13941
|
UTSW |
2 |
110,935,146 (GRCm39) |
missense |
unknown |
|
|
R9164:Gm13941
|
UTSW |
2 |
110,936,324 (GRCm39) |
missense |
unknown |
|
|
R9536:Gm13941
|
UTSW |
2 |
110,918,861 (GRCm39) |
missense |
unknown |
|
|
R9763:Gm13941
|
UTSW |
2 |
110,931,518 (GRCm39) |
missense |
unknown |
|
|
Z1177:Gm13941
|
UTSW |
2 |
110,925,123 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GAACCATCTCATGATCCATGTTG -3'
(R):5'- CCCAGATGGATGAAGCAGTG -3'
Sequencing Primer
(F):5'- CCATCTCATGATCCATGTTGTATTAC -3'
(R):5'- TGGGAATTCTGAGAACCAAGCCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation