Incidental Mutation 'R4498:Krt40'
| ID |
331707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt40
|
| Ensembl Gene |
ENSMUSG00000059169 |
| Gene Name |
keratin 40 |
| Synonyms |
Ka36 |
| MMRRC Submission |
041751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R4498 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99428311-99433984 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99433900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 29
(T29A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103067
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074253]
[ENSMUST00000107443]
|
| AlphaFold |
Q6IFX3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074253
AA Change: T29A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000073869
Gene: ENSMUSG00000059169
AA Change: T29A
| 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 |
possibly damaging
Transcript: ENSMUST00000107443
AA Change: T29A
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103067
Gene: ENSMUSG00000059169
AA Change: T29A
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
91% (53/58) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
G |
A |
15: 81,779,486 (GRCm39) |
A97T |
probably damaging |
Het |
| Acot9 |
T |
A |
X: 154,047,064 (GRCm39) |
L18* |
probably null |
Het |
| Arhgap12 |
A |
T |
18: 6,111,774 (GRCm39) |
C69S |
probably damaging |
Het |
| Ccdc17 |
G |
T |
4: 116,454,438 (GRCm39) |
|
probably benign |
Het |
| Ctnnd2 |
A |
C |
15: 30,620,020 (GRCm39) |
D124A |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,341,847 (GRCm39) |
N424S |
probably damaging |
Het |
| Dhrs7c |
T |
C |
11: 67,706,706 (GRCm39) |
F214S |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,160,923 (GRCm39) |
D3269G |
possibly damaging |
Het |
| Fhod3 |
T |
A |
18: 25,243,296 (GRCm39) |
|
probably null |
Het |
| Glul |
G |
T |
1: 153,782,849 (GRCm39) |
G187* |
probably null |
Het |
| Gnmt |
ATTAGGGGATGGTCTTAGGG |
ATTAGGG |
17: 47,036,662 (GRCm39) |
294 |
probably benign |
Het |
| H2-Q7 |
A |
T |
17: 35,658,506 (GRCm39) |
Y48F |
probably damaging |
Het |
| Hes3 |
T |
C |
4: 152,371,542 (GRCm39) |
T136A |
probably benign |
Het |
| Lrrc37a |
C |
A |
11: 103,392,624 (GRCm39) |
D934Y |
probably benign |
Het |
| Mctp2 |
T |
A |
7: 71,833,599 (GRCm39) |
D581V |
probably damaging |
Het |
| Med27 |
T |
C |
2: 29,361,354 (GRCm39) |
S38P |
probably damaging |
Het |
| Mff |
A |
G |
1: 82,719,501 (GRCm39) |
|
probably benign |
Het |
| Mmadhc |
T |
C |
2: 50,170,236 (GRCm39) |
K292R |
probably benign |
Het |
| Mmp24 |
A |
G |
2: 155,655,908 (GRCm39) |
I449V |
possibly damaging |
Het |
| Mthfd1 |
G |
T |
12: 76,361,764 (GRCm39) |
L123F |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,059,711 (GRCm39) |
L1363Q |
probably damaging |
Het |
| Myh4 |
T |
C |
11: 67,142,578 (GRCm39) |
I913T |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,485,869 (GRCm39) |
N649K |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,147,282 (GRCm39) |
I87T |
probably benign |
Het |
| Ndst4 |
A |
G |
3: 125,232,007 (GRCm39) |
D192G |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,183,157 (GRCm39) |
D1239G |
possibly damaging |
Het |
| Or5b21 |
T |
C |
19: 12,840,033 (GRCm39) |
V298A |
probably damaging |
Het |
| Or7e173 |
G |
C |
9: 19,939,029 (GRCm39) |
N68K |
possibly damaging |
Het |
| Phf10 |
T |
A |
17: 15,165,377 (GRCm39) |
N493I |
probably benign |
Het |
| Pramel32 |
A |
T |
4: 88,547,129 (GRCm39) |
|
probably null |
Het |
| Prr12 |
T |
C |
7: 44,695,338 (GRCm39) |
E1376G |
unknown |
Het |
| Rasa3 |
T |
C |
8: 13,664,587 (GRCm39) |
H75R |
probably benign |
Het |
| Rin3 |
G |
A |
12: 102,335,939 (GRCm39) |
V537M |
probably damaging |
Het |
| Samd4 |
C |
T |
14: 47,333,566 (GRCm39) |
T272I |
probably damaging |
Het |
| Septin5 |
C |
T |
16: 18,442,142 (GRCm39) |
G257D |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,326 (GRCm39) |
K141R |
probably benign |
Het |
| Siglecf |
T |
A |
7: 43,001,700 (GRCm39) |
I170N |
possibly damaging |
Het |
| Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
| Stk40 |
G |
A |
4: 126,023,544 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 4,981,768 (GRCm39) |
S8700P |
probably benign |
Het |
| Tbc1d4 |
C |
T |
14: 101,845,772 (GRCm39) |
G42E |
probably damaging |
Het |
| Tfap2c |
C |
T |
2: 172,399,102 (GRCm39) |
Q425* |
probably null |
Het |
| Tmem255b |
T |
C |
8: 13,505,998 (GRCm39) |
S202P |
probably damaging |
Het |
| Traf6 |
T |
C |
2: 101,514,891 (GRCm39) |
S16P |
probably benign |
Het |
| Ttc12 |
A |
G |
9: 49,383,705 (GRCm39) |
I66T |
probably damaging |
Het |
| Ttc21a |
G |
A |
9: 119,787,885 (GRCm39) |
D818N |
possibly damaging |
Het |
| Zfp81 |
A |
T |
17: 33,553,677 (GRCm39) |
I379N |
possibly damaging |
Het |
| Zgrf1 |
C |
A |
3: 127,379,749 (GRCm39) |
S211* |
probably null |
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 |
|
IGL01921:Krt40
|
APN |
11 |
99,433,989 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAACTGCATGGTCTCCTTC -3'
(R):5'- CGGTGTGTCCTGTAAATACCC -3'
Sequencing Primer
(F):5'- GGTCTCCTTCTCATTACTGTTGAACG -3'
(R):5'- GTCCTGTAAATACCCATTTGAAGGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation