Incidental Mutation 'IGL01089:Krt32'
| ID |
52262 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt32
|
| Ensembl Gene |
ENSMUSG00000046095 |
| Gene Name |
keratin 32 |
| Synonyms |
mHa2, Krt1-2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL01089
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100080848-100088226 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100087779 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 150
(S150P)
|
| 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: S150P
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103042
Gene: ENSMUSG00000046095
AA Change: S150P
| 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
|
| Coding Region Coverage |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
C |
14: 29,988,335 (GRCm38) |
L353S |
probably damaging |
Het |
| Adgrf2 |
G |
A |
17: 42,710,158 (GRCm38) |
P592S |
probably damaging |
Het |
| Aen |
G |
A |
7: 78,907,302 (GRCm38) |
M299I |
probably damaging |
Het |
| Afap1l2 |
A |
C |
19: 56,913,411 (GRCm38) |
|
probably null |
Het |
| Asnsd1 |
G |
A |
1: 53,348,277 (GRCm38) |
P64S |
probably damaging |
Het |
| Bmt2 |
A |
G |
6: 13,663,271 (GRCm38) |
M76T |
probably damaging |
Het |
| Clca3b |
A |
T |
3: 144,823,522 (GRCm38) |
V797D |
probably benign |
Het |
| Cog2 |
T |
C |
8: 124,545,243 (GRCm38) |
S499P |
probably benign |
Het |
| Cyp27a1 |
A |
T |
1: 74,731,938 (GRCm38) |
Y94F |
possibly damaging |
Het |
| D630045J12Rik |
A |
G |
6: 38,136,963 (GRCm38) |
S1765P |
probably benign |
Het |
| Fam149a |
A |
G |
8: 45,348,527 (GRCm38) |
L519P |
possibly damaging |
Het |
| Fam171a2 |
G |
A |
11: 102,437,848 (GRCm38) |
A695V |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,017,857 (GRCm38) |
V1566E |
probably damaging |
Het |
| Flvcr1 |
T |
G |
1: 191,013,390 (GRCm38) |
N361H |
probably damaging |
Het |
| Gm1110 |
T |
C |
9: 26,881,860 (GRCm38) |
N540S |
probably benign |
Het |
| Katnip |
A |
G |
7: 125,795,313 (GRCm38) |
E187G |
probably damaging |
Het |
| Kcns3 |
T |
A |
12: 11,091,571 (GRCm38) |
T376S |
possibly damaging |
Het |
| Liat1 |
A |
G |
11: 76,003,337 (GRCm38) |
E180G |
possibly damaging |
Het |
| Lrtm2 |
C |
T |
6: 119,320,792 (GRCm38) |
R96Q |
possibly damaging |
Het |
| Mctp1 |
A |
G |
13: 77,020,798 (GRCm38) |
E838G |
probably damaging |
Het |
| Mios |
T |
C |
6: 8,234,363 (GRCm38) |
|
probably null |
Het |
| Or1j10 |
A |
T |
2: 36,377,166 (GRCm38) |
Y130F |
probably damaging |
Het |
| Phldb1 |
T |
A |
9: 44,707,887 (GRCm38) |
K167* |
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,483,869 (GRCm38) |
|
probably benign |
Het |
| Plaa |
A |
G |
4: 94,574,047 (GRCm38) |
V531A |
probably benign |
Het |
| Psmb2 |
A |
G |
4: 126,684,206 (GRCm38) |
Y59C |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,215,286 (GRCm38) |
H1091R |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,168,697 (GRCm38) |
V926D |
possibly damaging |
Het |
| Rgma |
G |
T |
7: 73,409,714 (GRCm38) |
V189L |
possibly damaging |
Het |
| Sbf2 |
A |
T |
7: 110,348,962 (GRCm38) |
I1227K |
probably damaging |
Het |
| Slc8a1 |
T |
C |
17: 81,648,281 (GRCm38) |
T443A |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,388,881 (GRCm38) |
V896A |
probably damaging |
Het |
| Taf2 |
T |
C |
15: 55,016,581 (GRCm38) |
M1120V |
probably benign |
Het |
| Ugt2b34 |
C |
T |
5: 86,906,326 (GRCm38) |
V199I |
probably benign |
Het |
| Unc5c |
C |
A |
3: 141,818,202 (GRCm38) |
|
probably benign |
Het |
| Usp37 |
G |
A |
1: 74,493,046 (GRCm38) |
R63* |
probably null |
Het |
|
| Other mutations in Krt32 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01454:Krt32
|
APN |
11 |
100,084,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02268:Krt32
|
APN |
11 |
100,088,141 (GRCm38) |
missense |
probably benign |
0.21 |
|
IGL02502:Krt32
|
APN |
11 |
100,087,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02967:Krt32
|
APN |
11 |
100,084,050 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02799:Krt32
|
UTSW |
11 |
100,087,907 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R0840:Krt32
|
UTSW |
11 |
100,081,242 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1503:Krt32
|
UTSW |
11 |
100,084,110 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1944:Krt32
|
UTSW |
11 |
100,084,844 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1945:Krt32
|
UTSW |
11 |
100,084,844 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2426:Krt32
|
UTSW |
11 |
100,086,366 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R3774:Krt32
|
UTSW |
11 |
100,088,121 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3775:Krt32
|
UTSW |
11 |
100,088,121 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3776:Krt32
|
UTSW |
11 |
100,088,121 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5522:Krt32
|
UTSW |
11 |
100,086,671 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5794:Krt32
|
UTSW |
11 |
100,084,986 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6109:Krt32
|
UTSW |
11 |
100,087,965 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6994:Krt32
|
UTSW |
11 |
100,086,445 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7375:Krt32
|
UTSW |
11 |
100,081,224 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7577:Krt32
|
UTSW |
11 |
100,081,221 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8249:Krt32
|
UTSW |
11 |
100,086,722 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9207:Krt32
|
UTSW |
11 |
100,086,754 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9303:Krt32
|
UTSW |
11 |
100,081,203 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9305:Krt32
|
UTSW |
11 |
100,081,203 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9684:Krt32
|
UTSW |
11 |
100,086,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1088:Krt32
|
UTSW |
11 |
100,088,216 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Krt32
|
UTSW |
11 |
100,084,069 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2013-06-21 |
Incidental Mutation