Incidental Mutation 'R0789:Krt39'
| ID |
76406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt39
|
| Ensembl Gene |
ENSMUSG00000064165 |
| Gene Name |
keratin 39 |
| Synonyms |
4732494G06Rik |
| MMRRC Submission |
038969-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R0789 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
99404940-99412164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99411888 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 66
(Y66C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076948]
[ENSMUST00000107445]
|
| AlphaFold |
Q6IFX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076948
AA Change: Y66C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000076216
Gene: ENSMUSG00000064165
AA Change: Y66C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Filament
|
90 |
401 |
7.9e-96 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107445
AA Change: Y66C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000103069
Gene: ENSMUSG00000064165
AA Change: Y66C
| Domain | Start | End | E-Value | Type |
|---|
|
Filament
|
90 |
401 |
2.63e-130 |
SMART |
|
| Meta Mutation Damage Score |
0.0857 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.7%
- 20x: 91.7%
|
| Validation Efficiency |
98% (45/46) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb10 |
T |
C |
5: 24,744,862 (GRCm39) |
T111A |
probably damaging |
Het |
| BC024139 |
T |
C |
15: 76,005,283 (GRCm39) |
I526M |
possibly damaging |
Het |
| Cacnb4 |
C |
T |
2: 52,341,895 (GRCm39) |
V335I |
probably damaging |
Het |
| Ccdc33 |
C |
T |
9: 58,024,497 (GRCm39) |
|
probably benign |
Het |
| Cfap58 |
T |
G |
19: 47,943,748 (GRCm39) |
I316S |
probably benign |
Het |
| Chpf |
A |
T |
1: 75,452,407 (GRCm39) |
L349Q |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,072,210 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
| Dnah1 |
T |
C |
14: 31,026,548 (GRCm39) |
I777V |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,874,967 (GRCm39) |
V3966A |
probably damaging |
Het |
| Fbxo38 |
G |
A |
18: 62,648,570 (GRCm39) |
S656F |
possibly damaging |
Het |
| Fgf10 |
T |
A |
13: 118,925,741 (GRCm39) |
N173K |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,576,293 (GRCm39) |
E572K |
probably damaging |
Het |
| Gabra6 |
C |
A |
11: 42,205,844 (GRCm39) |
R336S |
probably benign |
Het |
| Glt8d2 |
T |
C |
10: 82,500,519 (GRCm39) |
N77S |
probably damaging |
Het |
| Grem1 |
C |
A |
2: 113,580,056 (GRCm39) |
K148N |
probably benign |
Het |
| Hat1 |
G |
A |
2: 71,252,088 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
T |
8: 111,293,603 (GRCm39) |
I3517F |
possibly damaging |
Het |
| Immt |
A |
G |
6: 71,838,051 (GRCm39) |
K253R |
probably damaging |
Het |
| Klk1b8 |
A |
C |
7: 43,595,151 (GRCm39) |
|
probably benign |
Het |
| Mrgprb1 |
T |
C |
7: 48,105,932 (GRCm39) |
|
probably benign |
Het |
| Nrp2 |
A |
G |
1: 62,784,609 (GRCm39) |
M253V |
probably benign |
Het |
| Omt2b |
G |
T |
9: 78,235,447 (GRCm39) |
|
probably benign |
Het |
| Or5as1 |
T |
C |
2: 86,980,171 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or7g32 |
C |
A |
9: 19,408,458 (GRCm39) |
P138H |
possibly damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,226 (GRCm39) |
Y358C |
probably damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,562,366 (GRCm39) |
M1215T |
probably benign |
Het |
| Polr1has |
T |
C |
17: 37,275,852 (GRCm39) |
Y145H |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,984,891 (GRCm39) |
E927G |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,611,318 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
T |
C |
17: 3,247,112 (GRCm39) |
C812R |
possibly damaging |
Het |
| Scart2 |
G |
T |
7: 139,828,133 (GRCm39) |
G114W |
probably damaging |
Het |
| Smpd4 |
T |
C |
16: 17,443,690 (GRCm39) |
V78A |
probably benign |
Het |
| Sp2 |
A |
T |
11: 96,852,202 (GRCm39) |
S241T |
probably benign |
Het |
| Tsga10 |
A |
T |
1: 37,840,868 (GRCm39) |
I446N |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,137,582 (GRCm39) |
|
probably null |
Het |
| Usp44 |
T |
C |
10: 93,683,082 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,612,225 (GRCm39) |
S864T |
probably benign |
Het |
| Vmn2r56 |
A |
G |
7: 12,466,762 (GRCm39) |
Y91H |
probably damaging |
Het |
| Vmn2r96 |
T |
C |
17: 18,802,738 (GRCm39) |
V216A |
possibly damaging |
Het |
| Wdr17 |
A |
T |
8: 55,112,607 (GRCm39) |
|
probably benign |
Het |
| Zmym6 |
A |
G |
4: 127,016,615 (GRCm39) |
T799A |
possibly damaging |
Het |
|
| Other mutations in Krt39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00702:Krt39
|
APN |
11 |
99,409,889 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02179:Krt39
|
APN |
11 |
99,411,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02478:Krt39
|
APN |
11 |
99,411,723 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02578:Krt39
|
APN |
11 |
99,412,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03090:Krt39
|
APN |
11 |
99,409,833 (GRCm39) |
splice site |
probably benign |
|
|
IGL03094:Krt39
|
APN |
11 |
99,411,628 (GRCm39) |
splice site |
probably benign |
|
|
R0532:Krt39
|
UTSW |
11 |
99,405,617 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1856:Krt39
|
UTSW |
11 |
99,409,914 (GRCm39) |
nonsense |
probably null |
|
|
R1920:Krt39
|
UTSW |
11 |
99,405,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1944:Krt39
|
UTSW |
11 |
99,410,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4391:Krt39
|
UTSW |
11 |
99,405,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4678:Krt39
|
UTSW |
11 |
99,411,826 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4921:Krt39
|
UTSW |
11 |
99,405,575 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5800:Krt39
|
UTSW |
11 |
99,411,971 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6207:Krt39
|
UTSW |
11 |
99,412,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6904:Krt39
|
UTSW |
11 |
99,410,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7034:Krt39
|
UTSW |
11 |
99,412,062 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7036:Krt39
|
UTSW |
11 |
99,412,062 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7131:Krt39
|
UTSW |
11 |
99,411,697 (GRCm39) |
missense |
probably benign |
|
|
R7424:Krt39
|
UTSW |
11 |
99,408,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7449:Krt39
|
UTSW |
11 |
99,408,887 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7627:Krt39
|
UTSW |
11 |
99,405,575 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7774:Krt39
|
UTSW |
11 |
99,405,437 (GRCm39) |
splice site |
probably null |
|
|
R7784:Krt39
|
UTSW |
11 |
99,411,857 (GRCm39) |
nonsense |
probably null |
|
|
R7827:Krt39
|
UTSW |
11 |
99,409,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8896:Krt39
|
UTSW |
11 |
99,409,095 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8961:Krt39
|
UTSW |
11 |
99,409,931 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9245:Krt39
|
UTSW |
11 |
99,407,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9784:Krt39
|
UTSW |
11 |
99,409,188 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCATTGTGTGGAGAGCATCCATC -3'
(R):5'- ACTCAGAGACAACGTGAAGCTGAAC -3'
Sequencing Primer
(F):5'- GTGGAGAGCATCCATCCACAG -3'
(R):5'- GGGCTCTACAGTGACGATTTC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation