Incidental Mutation 'R3775:Krt32'
| ID |
273559 |
| 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 # |
R3775 (G1)
|
| Quality Score |
224 |
|
Status
|
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: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (43/43) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,986,387 (GRCm39) |
E2557G |
possibly damaging |
Het |
| Arid1a |
A |
G |
4: 133,414,075 (GRCm39) |
S1248P |
unknown |
Het |
| C2cd3 |
T |
C |
7: 100,081,205 (GRCm39) |
L1327S |
probably damaging |
Het |
| Ccnh |
T |
C |
13: 85,354,243 (GRCm39) |
|
probably benign |
Het |
| Dcdc5 |
C |
A |
2: 106,202,738 (GRCm39) |
|
noncoding transcript |
Het |
| Eprs1 |
T |
C |
1: 185,105,205 (GRCm39) |
F160S |
probably damaging |
Het |
| F9 |
A |
G |
X: 59,064,345 (GRCm39) |
I190V |
probably benign |
Het |
| Fam185a |
C |
A |
5: 21,660,804 (GRCm39) |
A273D |
probably damaging |
Het |
| Fhod1 |
G |
A |
8: 106,058,270 (GRCm39) |
|
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,720,029 (GRCm39) |
D534G |
probably damaging |
Het |
| Ints6l |
T |
C |
X: 55,526,731 (GRCm39) |
L220S |
probably damaging |
Het |
| Kat7 |
T |
C |
11: 95,182,357 (GRCm39) |
T250A |
probably benign |
Het |
| Kif23 |
G |
A |
9: 61,832,274 (GRCm39) |
S623L |
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 |
| Msh6 |
G |
T |
17: 88,293,609 (GRCm39) |
R788L |
probably damaging |
Het |
| Mxi1 |
C |
A |
19: 53,360,160 (GRCm39) |
A294E |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,883 (GRCm39) |
E451G |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,359,902 (GRCm39) |
I445V |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,126 (GRCm39) |
|
probably benign |
Het |
| Npy1r |
T |
C |
8: 67,157,502 (GRCm39) |
F271L |
possibly damaging |
Het |
| Nup160 |
G |
T |
2: 90,552,420 (GRCm39) |
C1132F |
probably benign |
Het |
| Or13p3 |
C |
T |
4: 118,567,351 (GRCm39) |
T249I |
probably damaging |
Het |
| Or1o2 |
T |
A |
17: 37,543,121 (GRCm39) |
I47F |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,828,167 (GRCm39) |
E205G |
possibly damaging |
Het |
| Pdgfc |
A |
G |
3: 81,048,858 (GRCm39) |
T89A |
probably damaging |
Het |
| Pecr |
A |
G |
1: 72,298,530 (GRCm39) |
F297L |
probably benign |
Het |
| Pgr15l |
G |
T |
X: 96,120,747 (GRCm39) |
R181M |
probably damaging |
Het |
| Pomgnt1 |
G |
A |
4: 116,011,325 (GRCm39) |
R230H |
probably 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 |
| Rnf112 |
A |
T |
11: 61,341,011 (GRCm39) |
|
probably benign |
Het |
| Slc25a13 |
T |
A |
6: 6,109,288 (GRCm39) |
Q358L |
probably damaging |
Het |
| Slc25a19 |
A |
G |
11: 115,506,285 (GRCm39) |
Y303H |
probably damaging |
Het |
| Sympk |
T |
C |
7: 18,769,880 (GRCm39) |
F186L |
probably damaging |
Het |
| Tek |
A |
G |
4: 94,692,549 (GRCm39) |
D219G |
probably benign |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnik |
T |
C |
3: 28,692,568 (GRCm39) |
Y820H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Vmn2r29 |
C |
G |
7: 7,243,011 (GRCm39) |
D500H |
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 |
|
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'- AGAATACTTTAGTGCGAACCCC -3'
Sequencing Primer
(F):5'- GAACAGGCCATAGGTCCCCATG -3'
(R):5'- GAATACTTTAGTGCGAACCCCTTCAC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation