Incidental Mutation 'R2343:Krtap31-1'
| ID |
245905 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krtap31-1
|
| Ensembl Gene |
ENSMUSG00000070334 |
| Gene Name |
keratin associated protein 31-1 |
| Synonyms |
4733401H21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.195)
|
| Stock # |
R2343 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
99798746-99799716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 99798847 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 17
(T17P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093935]
|
| AlphaFold |
Q9D644 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093935
AA Change: T17P
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000091467
Gene: ENSMUSG00000070334
AA Change: T17P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
40 |
56 |
N/A |
INTRINSIC |
|
Pfam:Keratin_B2_2
|
64 |
107 |
1.9e-9 |
PFAM |
|
Pfam:Keratin_B2_2
|
111 |
157 |
2.4e-6 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcr |
T |
C |
10: 74,981,254 (GRCm39) |
I691T |
probably benign |
Het |
| Col20a1 |
A |
G |
2: 180,643,124 (GRCm39) |
T865A |
possibly damaging |
Het |
| Dmxl1 |
G |
A |
18: 50,023,745 (GRCm39) |
R1676H |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,735,355 (GRCm39) |
V1111A |
probably damaging |
Het |
| Eif3g |
T |
C |
9: 20,806,450 (GRCm39) |
Y213C |
probably damaging |
Het |
| Fat4 |
C |
T |
3: 39,011,254 (GRCm39) |
S2118F |
probably damaging |
Het |
| Gpr85 |
A |
G |
6: 13,836,695 (GRCm39) |
S70P |
probably damaging |
Het |
| Lig1 |
A |
G |
7: 13,026,121 (GRCm39) |
|
probably null |
Het |
| Lman2l |
A |
T |
1: 36,467,190 (GRCm39) |
D269E |
possibly damaging |
Het |
| Mcc |
A |
G |
18: 44,592,864 (GRCm39) |
|
probably null |
Het |
| Nav2 |
T |
C |
7: 49,248,565 (GRCm39) |
F2302L |
possibly damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or13p4 |
C |
A |
4: 118,547,384 (GRCm39) |
M88I |
probably benign |
Het |
| Or4k38 |
A |
G |
2: 111,166,045 (GRCm39) |
I126T |
probably damaging |
Het |
| Sema6c |
T |
C |
3: 95,074,394 (GRCm39) |
F67L |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,612,597 (GRCm39) |
V448D |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,564,604 (GRCm39) |
K160R |
probably benign |
Het |
| Spata2 |
A |
T |
2: 167,325,280 (GRCm39) |
V513E |
probably damaging |
Het |
| Susd3 |
T |
A |
13: 49,392,335 (GRCm39) |
M107L |
probably damaging |
Het |
| Tnni3k |
A |
G |
3: 154,644,466 (GRCm39) |
I564T |
probably benign |
Het |
| Zfp971 |
A |
G |
2: 177,674,787 (GRCm39) |
K129E |
possibly damaging |
Het |
|
| Other mutations in Krtap31-1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1608:Krtap31-1
|
UTSW |
11 |
99,798,919 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2284:Krtap31-1
|
UTSW |
11 |
99,799,081 (GRCm39) |
nonsense |
probably null |
|
|
R4072:Krtap31-1
|
UTSW |
11 |
99,799,058 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4074:Krtap31-1
|
UTSW |
11 |
99,799,058 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4076:Krtap31-1
|
UTSW |
11 |
99,799,058 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4086:Krtap31-1
|
UTSW |
11 |
99,799,145 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4884:Krtap31-1
|
UTSW |
11 |
99,799,310 (GRCm39) |
missense |
unknown |
|
|
R7644:Krtap31-1
|
UTSW |
11 |
99,799,048 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7670:Krtap31-1
|
UTSW |
11 |
99,799,258 (GRCm39) |
missense |
not run |
|
|
R7897:Krtap31-1
|
UTSW |
11 |
99,798,949 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7949:Krtap31-1
|
UTSW |
11 |
99,799,144 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8158:Krtap31-1
|
UTSW |
11 |
99,798,901 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTGGGTGAGAAATTCTTC -3'
(R):5'- TGGTCACACAGGTTGGCTTG -3'
Sequencing Primer
(F):5'- GGGTGAGAAATTCTTCCTTGATGAAC -3'
(R):5'- TTGCTGTCACAGGAGGCAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation