Incidental Mutation 'IGL01921:Krt40'
| ID |
180121 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt40
|
| Ensembl Gene |
ENSMUSG00000059169 |
| Gene Name |
keratin 40 |
| Synonyms |
Ka36 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
IGL01921
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99428311-99433984 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 99433989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074253]
[ENSMUST00000107443]
|
| AlphaFold |
Q6IFX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074253
|
| SMART Domains |
Protein: ENSMUSP00000073869
Gene: ENSMUSG00000059169
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
41 |
N/A |
INTRINSIC |
|
Filament
|
88 |
399 |
1.07e-139 |
SMART |
|
internal_repeat_1
|
409 |
419 |
9.76e-5 |
PROSPERO |
|
internal_repeat_1
|
417 |
427 |
9.76e-5 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107443
|
| SMART Domains |
Protein: ENSMUSP00000103067
Gene: ENSMUSG00000059169
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
41 |
N/A |
INTRINSIC |
|
Pfam:Filament
|
88 |
149 |
4.8e-19 |
PFAM |
|
Pfam:Filament
|
146 |
319 |
6.1e-50 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
C |
A |
8: 44,078,548 (GRCm39) |
V559L |
probably damaging |
Het |
| Agtpbp1 |
T |
C |
13: 59,660,297 (GRCm39) |
T310A |
possibly damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,640,019 (GRCm39) |
T92A |
probably damaging |
Het |
| Ciao1 |
C |
T |
2: 127,084,755 (GRCm39) |
V328I |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,557,299 (GRCm39) |
Q1943L |
possibly damaging |
Het |
| Diaph1 |
T |
C |
18: 37,989,261 (GRCm39) |
D898G |
possibly damaging |
Het |
| Dio3 |
A |
T |
12: 110,245,789 (GRCm39) |
T42S |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,955,115 (GRCm39) |
I2048N |
probably benign |
Het |
| Egr2 |
T |
A |
10: 67,376,208 (GRCm39) |
|
probably null |
Het |
| Epc2 |
T |
A |
2: 49,422,209 (GRCm39) |
Y368N |
probably damaging |
Het |
| Furin |
A |
G |
7: 80,045,702 (GRCm39) |
|
probably benign |
Het |
| Gga1 |
T |
C |
15: 78,777,995 (GRCm39) |
M620T |
possibly damaging |
Het |
| Gm21976 |
T |
A |
13: 98,441,829 (GRCm39) |
Y45* |
probably null |
Het |
| Gpn1 |
T |
C |
5: 31,656,612 (GRCm39) |
V105A |
probably damaging |
Het |
| Hoxb8 |
A |
T |
11: 96,175,181 (GRCm39) |
N206I |
probably damaging |
Het |
| Kif15 |
T |
A |
9: 122,808,569 (GRCm39) |
L67Q |
probably damaging |
Het |
| Mat1a |
T |
C |
14: 40,836,292 (GRCm39) |
|
probably benign |
Het |
| Mkrn1 |
T |
C |
6: 39,382,847 (GRCm39) |
D99G |
possibly damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,048,474 (GRCm39) |
Y645C |
possibly damaging |
Het |
| Ppp1r13b |
A |
G |
12: 111,799,671 (GRCm39) |
V702A |
probably benign |
Het |
| Ppp4r4 |
G |
T |
12: 103,542,569 (GRCm39) |
M1I |
probably null |
Het |
| Prss21 |
T |
A |
17: 24,091,414 (GRCm39) |
M217K |
possibly damaging |
Het |
| R3hcc1l |
A |
G |
19: 42,552,220 (GRCm39) |
S406G |
possibly damaging |
Het |
| Rfesd |
T |
C |
13: 76,156,385 (GRCm39) |
E7G |
probably benign |
Het |
| Ripk4 |
T |
C |
16: 97,544,565 (GRCm39) |
E694G |
possibly damaging |
Het |
| Rlf |
T |
C |
4: 121,003,943 (GRCm39) |
D1679G |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,569,436 (GRCm39) |
C4956Y |
possibly damaging |
Het |
| Scart1 |
G |
T |
7: 139,808,632 (GRCm39) |
E848* |
probably null |
Het |
| Uri1 |
T |
A |
7: 37,681,072 (GRCm39) |
K111* |
probably null |
Het |
| Usf1 |
A |
G |
1: 171,244,424 (GRCm39) |
E108G |
possibly damaging |
Het |
| Vmn1r71 |
C |
A |
7: 10,482,199 (GRCm39) |
R163L |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r86 |
T |
C |
10: 130,291,610 (GRCm39) |
T52A |
probably benign |
Het |
| Washc5 |
A |
T |
15: 59,213,958 (GRCm39) |
|
probably null |
Het |
| Zfp583 |
T |
C |
7: 6,328,569 (GRCm39) |
T7A |
possibly damaging |
Het |
| Zim1 |
T |
G |
7: 6,685,184 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Krt40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01407:Krt40
|
APN |
11 |
99,432,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01483:Krt40
|
APN |
11 |
99,433,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01621:Krt40
|
APN |
11 |
99,433,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02095:Krt40
|
APN |
11 |
99,432,497 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02735:Krt40
|
APN |
11 |
99,429,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02960:Krt40
|
APN |
11 |
99,430,693 (GRCm39) |
splice site |
probably null |
|
|
IGL02965:Krt40
|
APN |
11 |
99,432,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03168:Krt40
|
APN |
11 |
99,433,854 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03240:Krt40
|
APN |
11 |
99,428,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03387:Krt40
|
APN |
11 |
99,430,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0178:Krt40
|
UTSW |
11 |
99,432,565 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0242:Krt40
|
UTSW |
11 |
99,429,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Krt40
|
UTSW |
11 |
99,429,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0389:Krt40
|
UTSW |
11 |
99,432,540 (GRCm39) |
nonsense |
probably null |
|
|
R1104:Krt40
|
UTSW |
11 |
99,431,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Krt40
|
UTSW |
11 |
99,430,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2022:Krt40
|
UTSW |
11 |
99,430,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4498:Krt40
|
UTSW |
11 |
99,433,900 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4716:Krt40
|
UTSW |
11 |
99,431,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5886:Krt40
|
UTSW |
11 |
99,430,907 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6232:Krt40
|
UTSW |
11 |
99,433,920 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6233:Krt40
|
UTSW |
11 |
99,433,920 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6235:Krt40
|
UTSW |
11 |
99,433,920 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6248:Krt40
|
UTSW |
11 |
99,432,566 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7064:Krt40
|
UTSW |
11 |
99,430,954 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7400:Krt40
|
UTSW |
11 |
99,433,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7589:Krt40
|
UTSW |
11 |
99,430,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7831:Krt40
|
UTSW |
11 |
99,432,087 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7838:Krt40
|
UTSW |
11 |
99,430,961 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9156:Krt40
|
UTSW |
11 |
99,430,693 (GRCm39) |
splice site |
probably null |
|
|
R9342:Krt40
|
UTSW |
11 |
99,429,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation