Incidental Mutation 'R1246:Gm11563'
| ID |
152157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gm11563
|
| Ensembl Gene |
ENSMUSG00000069718 |
| Gene Name |
predicted gene 11563 |
| Synonyms |
2310045F10Rik |
| MMRRC Submission |
039313-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R1246 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
99548775-99549786 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99549674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 27
(T27A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092695]
|
| AlphaFold |
B1AQ90 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000092695
AA Change: T27A
|
| SMART Domains |
Protein: ENSMUSP00000090369
Gene: ENSMUSG00000069718
AA Change: T27A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_B2_2
|
1 |
58 |
3.9e-10 |
PFAM |
|
Pfam:Keratin_B2_2
|
44 |
88 |
7.8e-16 |
PFAM |
|
Pfam:Keratin_B2_2
|
59 |
102 |
3.7e-14 |
PFAM |
|
internal_repeat_1
|
142 |
157 |
9.92e-7 |
PROSPERO |
|
internal_repeat_1
|
152 |
167 |
9.92e-7 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000119334
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029F12Rik |
T |
C |
13: 97,166,803 (GRCm39) |
D71G |
unknown |
Het |
| Gm7361 |
G |
T |
5: 26,466,225 (GRCm39) |
E196* |
probably null |
Het |
| Ltbp1 |
T |
A |
17: 75,692,156 (GRCm39) |
Y1273* |
probably null |
Het |
| Nol8 |
T |
A |
13: 49,830,245 (GRCm39) |
W1110R |
probably damaging |
Het |
| Or52b4 |
T |
A |
7: 102,184,149 (GRCm39) |
L65H |
probably damaging |
Het |
| Or56b2 |
C |
A |
7: 104,337,371 (GRCm39) |
L50I |
possibly damaging |
Het |
| Or8b1 |
T |
C |
9: 38,400,086 (GRCm39) |
S254P |
probably damaging |
Het |
| Pde4d |
T |
A |
13: 110,087,507 (GRCm39) |
W625R |
probably damaging |
Het |
| Pigg |
T |
C |
5: 108,489,686 (GRCm39) |
Y631H |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,744,257 (GRCm39) |
Y165H |
probably damaging |
Het |
| Rap1gap |
A |
G |
4: 137,439,405 (GRCm39) |
E114G |
possibly damaging |
Het |
| Tubb2b |
G |
A |
13: 34,312,130 (GRCm39) |
T221I |
possibly damaging |
Het |
| Ythdf2 |
G |
A |
4: 131,932,182 (GRCm39) |
T326M |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,765,735 (GRCm39) |
I1421V |
probably benign |
Het |
|
| Other mutations in Gm11563 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01911:Gm11563
|
APN |
11 |
99,549,527 (GRCm39) |
nonsense |
probably null |
|
|
IGL02125:Gm11563
|
APN |
11 |
99,549,631 (GRCm39) |
missense |
unknown |
|
|
R0551:Gm11563
|
UTSW |
11 |
99,549,539 (GRCm39) |
missense |
unknown |
|
|
R0584:Gm11563
|
UTSW |
11 |
99,549,451 (GRCm39) |
missense |
unknown |
|
|
R0620:Gm11563
|
UTSW |
11 |
99,549,263 (GRCm39) |
missense |
unknown |
|
|
R4575:Gm11563
|
UTSW |
11 |
99,549,275 (GRCm39) |
missense |
unknown |
|
|
R4745:Gm11563
|
UTSW |
11 |
99,549,246 (GRCm39) |
makesense |
probably null |
|
|
R5279:Gm11563
|
UTSW |
11 |
99,549,539 (GRCm39) |
missense |
unknown |
|
|
R6945:Gm11563
|
UTSW |
11 |
99,549,298 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGGTCTCAAACAGCAGCAGG -3'
(R):5'- TCCCATGTCACATGACAAGCAGG -3'
Sequencing Primer
(F):5'- gctggagctaccacaggag -3'
(R):5'- ACTGAGGTGTCATGGAATATTGC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation