Incidental Mutation 'R3776:Krt32'
| ID |
273600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt32
|
| Ensembl Gene |
ENSMUSG00000046095 |
| Gene Name |
keratin 32 |
| Synonyms |
mHa2, Krt1-2 |
| MMRRC Submission |
040874-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R3776 (G1)
|
| Quality Score |
216 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
99971674-99979095 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 99978947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 36
(C36R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103042
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103127]
[ENSMUST00000107419]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103127
|
| SMART Domains |
Protein: ENSMUSP00000099416
Gene: ENSMUSG00000048013
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
|
Filament
|
96 |
407 |
3.32e-159 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107419
AA Change: C36R
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000103042
Gene: ENSMUSG00000046095
AA Change: C36R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
23 |
N/A |
INTRINSIC |
|
Filament
|
100 |
411 |
5.4e-150 |
SMART |
|
low complexity region
|
435 |
448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136820
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139873
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173988
|
| Meta Mutation Damage Score |
0.0938 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer1 |
C |
T |
17: 57,262,111 (GRCm39) |
V264M |
probably damaging |
Het |
| Adgrg1 |
C |
T |
8: 95,736,283 (GRCm39) |
S479F |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,735,911 (GRCm39) |
|
probably benign |
Het |
| Atp2b1 |
CTTTTT |
CTTTTTT |
10: 98,815,731 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
G |
A |
12: 100,913,438 (GRCm39) |
T529M |
probably damaging |
Het |
| Cdc27 |
T |
G |
11: 104,406,263 (GRCm39) |
E617D |
probably damaging |
Het |
| Cfap54 |
A |
G |
10: 92,880,962 (GRCm39) |
V367A |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,928,900 (GRCm39) |
Q1445* |
probably null |
Het |
| Crispld2 |
T |
C |
8: 120,756,005 (GRCm39) |
S325P |
probably damaging |
Het |
| Dll1 |
T |
C |
17: 15,588,786 (GRCm39) |
S630G |
probably benign |
Het |
| Ednra |
A |
G |
8: 78,401,724 (GRCm39) |
S189P |
probably damaging |
Het |
| Eif6 |
T |
A |
2: 155,668,296 (GRCm39) |
T20S |
possibly damaging |
Het |
| Fbxl5 |
A |
G |
5: 43,915,618 (GRCm39) |
V555A |
possibly damaging |
Het |
| Gdpd5 |
G |
A |
7: 99,103,779 (GRCm39) |
R422Q |
probably benign |
Het |
| Glt1d1 |
T |
A |
5: 127,771,375 (GRCm39) |
F289I |
probably damaging |
Het |
| Gm5565 |
T |
A |
5: 146,095,419 (GRCm39) |
E192V |
probably benign |
Het |
| Gpc5 |
T |
C |
14: 115,607,472 (GRCm39) |
M358T |
probably benign |
Het |
| Helz2 |
G |
A |
2: 180,882,182 (GRCm39) |
R204* |
probably null |
Het |
| Hhex |
A |
T |
19: 37,425,718 (GRCm39) |
Q149L |
probably damaging |
Het |
| Kat2b |
A |
G |
17: 53,874,609 (GRCm39) |
|
probably null |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
| Klra2 |
A |
T |
6: 131,219,926 (GRCm39) |
L85H |
probably benign |
Het |
| Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
| Mpp3 |
G |
T |
11: 101,914,193 (GRCm39) |
S134* |
probably null |
Het |
| Mttp |
T |
C |
3: 137,820,024 (GRCm39) |
|
probably null |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Nin |
G |
T |
12: 70,085,456 (GRCm39) |
Q1592K |
possibly damaging |
Het |
| Nlrc5 |
A |
G |
8: 95,199,467 (GRCm39) |
E26G |
possibly damaging |
Het |
| Nup160 |
G |
T |
2: 90,552,420 (GRCm39) |
C1132F |
probably benign |
Het |
| Or4a15 |
A |
T |
2: 89,193,108 (GRCm39) |
S222T |
possibly damaging |
Het |
| Pdgfc |
A |
G |
3: 81,048,858 (GRCm39) |
T89A |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,214,992 (GRCm39) |
D1007G |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,612,543 (GRCm39) |
L98P |
probably benign |
Het |
| Pkhd1l1 |
G |
A |
15: 44,378,371 (GRCm39) |
|
probably null |
Het |
| Plod1 |
A |
G |
4: 148,015,734 (GRCm39) |
V105A |
possibly damaging |
Het |
| Polg2 |
G |
T |
11: 106,670,110 (GRCm39) |
F53L |
probably benign |
Het |
| Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
| Rab3gap2 |
T |
C |
1: 185,009,402 (GRCm39) |
L1086P |
probably damaging |
Het |
| Rnf19a |
T |
A |
15: 36,266,058 (GRCm39) |
N13I |
probably benign |
Het |
| Slc25a19 |
A |
G |
11: 115,506,285 (GRCm39) |
Y303H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,955,966 (GRCm39) |
F1143L |
possibly damaging |
Het |
| Ubxn11 |
C |
T |
4: 133,835,605 (GRCm39) |
P4S |
probably damaging |
Het |
| Zg16 |
T |
A |
7: 126,649,704 (GRCm39) |
I86F |
probably damaging |
Het |
|
| Other mutations in Krt32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01089:Krt32
|
APN |
11 |
99,978,605 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01454:Krt32
|
APN |
11 |
99,974,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02268:Krt32
|
APN |
11 |
99,978,967 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02502:Krt32
|
APN |
11 |
99,978,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02967:Krt32
|
APN |
11 |
99,974,876 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02799:Krt32
|
UTSW |
11 |
99,978,733 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0840:Krt32
|
UTSW |
11 |
99,972,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1503:Krt32
|
UTSW |
11 |
99,974,936 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1944:Krt32
|
UTSW |
11 |
99,975,670 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1945:Krt32
|
UTSW |
11 |
99,975,670 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2426:Krt32
|
UTSW |
11 |
99,977,192 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3774:Krt32
|
UTSW |
11 |
99,978,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3775:Krt32
|
UTSW |
11 |
99,978,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5522:Krt32
|
UTSW |
11 |
99,977,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5794:Krt32
|
UTSW |
11 |
99,975,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6109:Krt32
|
UTSW |
11 |
99,978,791 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6994:Krt32
|
UTSW |
11 |
99,977,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7375:Krt32
|
UTSW |
11 |
99,972,050 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7577:Krt32
|
UTSW |
11 |
99,972,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8249:Krt32
|
UTSW |
11 |
99,977,548 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9207:Krt32
|
UTSW |
11 |
99,977,580 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9303:Krt32
|
UTSW |
11 |
99,972,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9305:Krt32
|
UTSW |
11 |
99,972,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9684:Krt32
|
UTSW |
11 |
99,977,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Krt32
|
UTSW |
11 |
99,979,042 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Krt32
|
UTSW |
11 |
99,974,895 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTGAAGGCACCCTCACAG -3'
(R):5'- AGAATACTTTAGTGCGAACCCC -3'
Sequencing Primer
(F):5'- GAACAGGCCATAGGTCCCCATG -3'
(R):5'- GAATACTTTAGTGCGAACCCCTTCAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation