Incidental Mutation 'R1224:Krt31'
| ID |
152842 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt31
|
| Ensembl Gene |
ENSMUSG00000048981 |
| Gene Name |
keratin 31 |
| Synonyms |
Kha1, Ha1, MKHA-1, Krt1-1 |
| MMRRC Submission |
039293-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1224 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
99937472-99941377 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 99940690 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007318]
|
| AlphaFold |
Q61765 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000007318
|
| SMART Domains |
Protein: ENSMUSP00000007318
Gene: ENSMUSG00000048981
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
Filament
|
55 |
366 |
2.14e-153 |
SMART |
|
low complexity region
|
384 |
411 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136820
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
A |
11: 109,931,408 (GRCm39) |
E1248D |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Aldh16a1 |
T |
C |
7: 44,791,471 (GRCm39) |
|
probably null |
Het |
| Aldh9a1 |
T |
A |
1: 167,180,227 (GRCm39) |
I107N |
probably damaging |
Het |
| Atp6ap1l |
G |
A |
13: 91,034,675 (GRCm39) |
Q236* |
probably null |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Cd46 |
A |
T |
1: 194,744,706 (GRCm39) |
I344K |
possibly damaging |
Het |
| Ces3a |
A |
T |
8: 105,778,141 (GRCm39) |
D204V |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,434,878 (GRCm39) |
S346G |
probably benign |
Het |
| Cplane1 |
T |
A |
15: 8,207,869 (GRCm39) |
C207S |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,710,548 (GRCm39) |
D1190G |
possibly damaging |
Het |
| Gimap8 |
G |
A |
6: 48,627,629 (GRCm39) |
S201N |
probably benign |
Het |
| Gm10153 |
A |
G |
7: 141,744,072 (GRCm39) |
S19P |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,897,494 (GRCm39) |
V1024A |
probably benign |
Het |
| Kcng3 |
A |
G |
17: 83,938,824 (GRCm39) |
L75P |
probably damaging |
Het |
| Ly6a |
A |
G |
15: 74,868,327 (GRCm39) |
V54A |
possibly damaging |
Het |
| Map3k7cl |
T |
A |
16: 87,352,891 (GRCm39) |
D21E |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Rapsn |
T |
C |
2: 90,873,543 (GRCm39) |
L230P |
probably damaging |
Het |
| Rhog |
C |
A |
7: 101,888,959 (GRCm39) |
V165F |
possibly damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,844 (GRCm39) |
V313A |
probably benign |
Het |
| Sox14 |
G |
C |
9: 99,757,168 (GRCm39) |
H190Q |
probably damaging |
Het |
| Sval2 |
G |
A |
6: 41,841,188 (GRCm39) |
D103N |
probably benign |
Het |
| Tm9sf3 |
A |
T |
19: 41,211,634 (GRCm39) |
V403D |
probably damaging |
Het |
| Tmem269 |
T |
C |
4: 119,074,323 (GRCm39) |
K18R |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,511,139 (GRCm39) |
F49S |
probably damaging |
Het |
| Zdhhc7 |
T |
A |
8: 120,809,311 (GRCm39) |
T299S |
probably benign |
Het |
| Zfp52 |
T |
C |
17: 21,775,324 (GRCm39) |
V6A |
possibly damaging |
Het |
|
| Other mutations in Krt31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02313:Krt31
|
APN |
11 |
99,939,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02433:Krt31
|
APN |
11 |
99,939,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0393:Krt31
|
UTSW |
11 |
99,941,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0667:Krt31
|
UTSW |
11 |
99,938,951 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1544:Krt31
|
UTSW |
11 |
99,938,699 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1891:Krt31
|
UTSW |
11 |
99,938,634 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1940:Krt31
|
UTSW |
11 |
99,939,069 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1987:Krt31
|
UTSW |
11 |
99,940,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2761:Krt31
|
UTSW |
11 |
99,938,691 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2870:Krt31
|
UTSW |
11 |
99,938,699 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2870:Krt31
|
UTSW |
11 |
99,938,699 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3980:Krt31
|
UTSW |
11 |
99,939,030 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4809:Krt31
|
UTSW |
11 |
99,940,748 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4822:Krt31
|
UTSW |
11 |
99,938,610 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4931:Krt31
|
UTSW |
11 |
99,940,983 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6146:Krt31
|
UTSW |
11 |
99,939,056 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6722:Krt31
|
UTSW |
11 |
99,939,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6811:Krt31
|
UTSW |
11 |
99,939,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6996:Krt31
|
UTSW |
11 |
99,938,558 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7300:Krt31
|
UTSW |
11 |
99,938,612 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7548:Krt31
|
UTSW |
11 |
99,940,346 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8375:Krt31
|
UTSW |
11 |
99,938,603 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0028:Krt31
|
UTSW |
11 |
99,938,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTTCTGGATGCTCCATCAAAACCC -3'
(R):5'- GAGACCATGCAGTTCCTGAATGACC -3'
Sequencing Primer
(F):5'- TCAAAACCCAACGTCGCTC -3'
(R):5'- GCAACTTGCTAAGGTTCTCAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation