Incidental Mutation 'R3774:Krt32'
ID |
273516 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt32
|
Ensembl Gene |
ENSMUSG00000046095 |
Gene Name |
keratin 32 |
Synonyms |
mHa2, Krt1-2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R3774 (G1)
|
Quality Score |
225 |
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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
A |
G |
3: 153,638,734 (GRCm39) |
V213A |
probably benign |
Het |
Ccndbp1 |
A |
G |
2: 120,839,581 (GRCm39) |
K26R |
possibly damaging |
Het |
Chrna10 |
T |
C |
7: 101,763,535 (GRCm39) |
T87A |
probably benign |
Het |
Col27a1 |
T |
A |
4: 63,232,963 (GRCm39) |
N360K |
probably benign |
Het |
Crispld2 |
T |
C |
8: 120,756,005 (GRCm39) |
S325P |
probably damaging |
Het |
Dgkd |
T |
A |
1: 87,864,022 (GRCm39) |
I79N |
probably damaging |
Het |
Dhdh |
T |
A |
7: 45,131,362 (GRCm39) |
D157V |
probably benign |
Het |
Dnajc15 |
A |
T |
14: 78,094,377 (GRCm39) |
|
probably null |
Het |
Fbxo44 |
G |
T |
4: 148,241,051 (GRCm39) |
F179L |
probably damaging |
Het |
Gm5565 |
T |
A |
5: 146,095,419 (GRCm39) |
E192V |
probably benign |
Het |
Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
Itgav |
A |
G |
2: 83,622,308 (GRCm39) |
E630G |
probably damaging |
Het |
Iws1 |
T |
C |
18: 32,213,048 (GRCm39) |
S159P |
probably damaging |
Het |
Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
probably benign |
Het |
Med12l |
A |
C |
3: 59,155,363 (GRCm39) |
Q1181P |
probably damaging |
Het |
Megf10 |
G |
A |
18: 57,410,177 (GRCm39) |
G653S |
probably damaging |
Het |
Mon1a |
A |
G |
9: 107,778,502 (GRCm39) |
Y242C |
probably damaging |
Het |
Msh6 |
G |
T |
17: 88,293,609 (GRCm39) |
R788L |
probably damaging |
Het |
Mttp |
T |
C |
3: 137,820,024 (GRCm39) |
|
probably null |
Het |
Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
Olfm5 |
T |
A |
7: 103,811,056 (GRCm39) |
R27S |
possibly damaging |
Het |
Or52n2b |
T |
A |
7: 104,566,113 (GRCm39) |
Y130F |
probably benign |
Het |
Palmd |
T |
C |
3: 116,721,312 (GRCm39) |
E81G |
probably damaging |
Het |
Pecr |
A |
G |
1: 72,298,530 (GRCm39) |
F297L |
probably benign |
Het |
Phf11b |
A |
G |
14: 59,563,506 (GRCm39) |
L137S |
probably benign |
Het |
Phlpp1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
1: 106,320,921 (GRCm39) |
|
probably benign |
Het |
Plcb4 |
A |
G |
2: 135,800,065 (GRCm39) |
K472E |
probably benign |
Het |
Pomgnt1 |
G |
A |
4: 116,011,325 (GRCm39) |
R230H |
probably damaging |
Het |
Pomt1 |
A |
G |
2: 32,134,262 (GRCm39) |
H261R |
possibly damaging |
Het |
Ppm1d |
T |
C |
11: 85,227,993 (GRCm39) |
I303T |
probably damaging |
Het |
Ptprc |
T |
G |
1: 137,992,511 (GRCm39) |
Q1205H |
probably damaging |
Het |
Rad23b |
C |
T |
4: 55,382,589 (GRCm39) |
T264I |
possibly damaging |
Het |
Rfc1 |
T |
C |
5: 65,421,749 (GRCm39) |
Y1050C |
probably damaging |
Het |
Septin8 |
T |
C |
11: 53,428,406 (GRCm39) |
V352A |
probably damaging |
Het |
Slc25a13 |
T |
A |
6: 6,109,288 (GRCm39) |
Q358L |
probably damaging |
Het |
Ssh1 |
T |
C |
5: 114,104,783 (GRCm39) |
D12G |
probably damaging |
Het |
Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
Trpm3 |
T |
C |
19: 22,955,966 (GRCm39) |
F1143L |
possibly damaging |
Het |
Trpm3 |
T |
A |
19: 22,965,339 (GRCm39) |
S1611R |
probably benign |
Het |
Ttyh3 |
A |
G |
5: 140,634,489 (GRCm39) |
F32L |
probably damaging |
Het |
Unkl |
T |
A |
17: 25,407,381 (GRCm39) |
|
probably null |
Het |
Vwf |
T |
A |
6: 125,626,062 (GRCm39) |
|
probably null |
Het |
Wdr11 |
T |
A |
7: 129,233,417 (GRCm39) |
|
probably null |
Het |
Yeats2 |
A |
G |
16: 19,969,245 (GRCm39) |
D12G |
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 |
R3775:Krt32
|
UTSW |
11 |
99,978,947 (GRCm39) |
missense |
probably benign |
0.00 |
R3776: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'- CCATGAGAATACTTTAGTGCGAACC -3'
Sequencing Primer
(F):5'- GAACAGGCCATAGGTCCCCATG -3'
(R):5'- GAGAATACTTTAGTGCGAACCCCTTC -3'
|
Posted On |
2015-03-25 |