Incidental Mutation 'R5634:Krt84'
| ID |
440055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt84
|
| Ensembl Gene |
ENSMUSG00000044294 |
| Gene Name |
keratin 84 |
| Synonyms |
Krt2-16, Krt2-3, HRb-1 |
| MMRRC Submission |
043285-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R5634 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101433461-101441255 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 101437084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 360
(V360L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023720]
|
| AlphaFold |
Q99M73 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023720
AA Change: V360L
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000023720
Gene: ENSMUSG00000044294
AA Change: V360L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
16 |
169 |
3.9e-39 |
PFAM |
|
Filament
|
172 |
483 |
4.05e-163 |
SMART |
|
low complexity region
|
535 |
560 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
602 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229893
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
98% (60/61) |
| 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 II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,494,921 (GRCm39) |
|
probably benign |
Het |
| Aen |
A |
T |
7: 78,552,255 (GRCm39) |
T34S |
probably benign |
Het |
| Apoh |
T |
A |
11: 108,302,875 (GRCm39) |
V280E |
probably damaging |
Het |
| Ccdc87 |
A |
G |
19: 4,890,693 (GRCm39) |
H395R |
probably benign |
Het |
| Ccrl2 |
T |
A |
9: 110,885,055 (GRCm39) |
|
probably null |
Het |
| Cdh20 |
T |
C |
1: 104,902,800 (GRCm39) |
F497S |
probably damaging |
Het |
| Cfap54 |
C |
A |
10: 92,740,125 (GRCm39) |
|
probably benign |
Het |
| Cimap1b |
T |
A |
15: 89,262,410 (GRCm39) |
T70S |
probably benign |
Het |
| Cipc |
T |
A |
12: 86,999,749 (GRCm39) |
|
probably null |
Het |
| Col14a1 |
T |
A |
15: 55,381,694 (GRCm39) |
Y1756N |
probably damaging |
Het |
| Cyp2c54 |
G |
A |
19: 40,060,858 (GRCm39) |
A95V |
possibly damaging |
Het |
| Dcdc5 |
A |
G |
2: 106,234,325 (GRCm39) |
|
noncoding transcript |
Het |
| Dnah17 |
T |
C |
11: 117,943,752 (GRCm39) |
|
probably null |
Het |
| Eepd1 |
A |
T |
9: 25,514,849 (GRCm39) |
N552I |
probably benign |
Het |
| Eif2ak4 |
A |
T |
2: 118,292,792 (GRCm39) |
R1218W |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,505,871 (GRCm39) |
I467F |
possibly damaging |
Het |
| Ffar4 |
GCTTCTT |
GCTT |
19: 38,102,373 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gpha2 |
A |
G |
19: 6,276,890 (GRCm39) |
T25A |
probably benign |
Het |
| Grin3a |
T |
A |
4: 49,792,843 (GRCm39) |
I297F |
probably damaging |
Het |
| Herc2 |
G |
A |
7: 55,856,531 (GRCm39) |
G3924R |
probably damaging |
Het |
| Hmcn2 |
G |
T |
2: 31,223,893 (GRCm39) |
D97Y |
probably damaging |
Het |
| Igdcc4 |
G |
A |
9: 65,041,828 (GRCm39) |
G1131D |
probably benign |
Het |
| Il18rap |
T |
C |
1: 40,578,536 (GRCm39) |
|
probably benign |
Het |
| Ino80d |
C |
A |
1: 63,101,442 (GRCm39) |
|
probably benign |
Het |
| Klhl1 |
T |
C |
14: 96,477,707 (GRCm39) |
T454A |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,432,840 (GRCm39) |
N1267S |
possibly damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,803,576 (GRCm39) |
N15S |
probably damaging |
Het |
| Med13l |
T |
C |
5: 118,698,915 (GRCm39) |
F22S |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,227,040 (GRCm39) |
C548* |
probably null |
Het |
| Nacad |
T |
C |
11: 6,552,387 (GRCm39) |
E268G |
possibly damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,686,833 (GRCm39) |
C527R |
probably damaging |
Het |
| Nphp1 |
A |
T |
2: 127,601,570 (GRCm39) |
C412S |
possibly damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or4g16 |
A |
G |
2: 111,137,437 (GRCm39) |
I296V |
probably benign |
Het |
| Per2 |
C |
T |
1: 91,372,429 (GRCm39) |
C215Y |
probably benign |
Het |
| Pias1 |
T |
C |
9: 62,803,255 (GRCm39) |
T343A |
probably benign |
Het |
| Pja2 |
C |
T |
17: 64,599,862 (GRCm39) |
V541M |
probably damaging |
Het |
| Plxna4 |
G |
A |
6: 32,214,658 (GRCm39) |
Q608* |
probably null |
Het |
| Ppil4 |
T |
A |
10: 7,690,542 (GRCm39) |
D398E |
probably benign |
Het |
| Ppp4r3a |
T |
A |
12: 101,009,780 (GRCm39) |
D8V |
probably damaging |
Het |
| Pstk |
A |
C |
7: 130,973,072 (GRCm39) |
D57A |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 75,990,255 (GRCm39) |
I53V |
probably benign |
Het |
| Pyroxd2 |
A |
G |
19: 42,728,924 (GRCm39) |
F159L |
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,486,601 (GRCm39) |
M411V |
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,220,830 (GRCm39) |
D943G |
probably benign |
Het |
| Sdk2 |
T |
C |
11: 113,742,540 (GRCm39) |
T790A |
probably damaging |
Het |
| Sfr1 |
T |
C |
19: 47,722,310 (GRCm39) |
L242P |
probably damaging |
Het |
| Snx25 |
T |
C |
8: 46,494,428 (GRCm39) |
D819G |
possibly damaging |
Het |
| Sult2b1 |
A |
G |
7: 45,383,506 (GRCm39) |
V183A |
probably damaging |
Het |
| Tcf4 |
C |
A |
18: 69,769,918 (GRCm39) |
S8R |
possibly damaging |
Het |
| Ttc7 |
A |
G |
17: 87,649,515 (GRCm39) |
D531G |
probably benign |
Het |
| Uap1l1 |
A |
C |
2: 25,254,145 (GRCm39) |
C271G |
probably damaging |
Het |
| Ubtf |
T |
C |
11: 102,201,150 (GRCm39) |
Y268C |
probably damaging |
Het |
| Vinac1 |
A |
T |
2: 128,881,406 (GRCm39) |
D173E |
probably benign |
Het |
| Zfp951 |
A |
T |
5: 104,963,155 (GRCm39) |
M137K |
probably benign |
Het |
|
| Other mutations in Krt84 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Krt84
|
APN |
15 |
101,437,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00227:Krt84
|
APN |
15 |
101,436,208 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01352:Krt84
|
APN |
15 |
101,437,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01523:Krt84
|
APN |
15 |
101,437,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01797:Krt84
|
APN |
15 |
101,436,915 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01874:Krt84
|
APN |
15 |
101,436,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02044:Krt84
|
APN |
15 |
101,436,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02183:Krt84
|
APN |
15 |
101,440,791 (GRCm39) |
missense |
unknown |
|
|
IGL02455:Krt84
|
APN |
15 |
101,434,170 (GRCm39) |
missense |
unknown |
|
|
IGL03023:Krt84
|
APN |
15 |
101,436,880 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0102:Krt84
|
UTSW |
15 |
101,437,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0102:Krt84
|
UTSW |
15 |
101,437,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0103:Krt84
|
UTSW |
15 |
101,438,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0423:Krt84
|
UTSW |
15 |
101,437,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0704:Krt84
|
UTSW |
15 |
101,441,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1500:Krt84
|
UTSW |
15 |
101,438,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1647:Krt84
|
UTSW |
15 |
101,434,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1650:Krt84
|
UTSW |
15 |
101,434,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1651:Krt84
|
UTSW |
15 |
101,434,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1652:Krt84
|
UTSW |
15 |
101,434,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1731:Krt84
|
UTSW |
15 |
101,434,398 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1999:Krt84
|
UTSW |
15 |
101,438,019 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2106:Krt84
|
UTSW |
15 |
101,439,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2150:Krt84
|
UTSW |
15 |
101,438,019 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2212:Krt84
|
UTSW |
15 |
101,440,973 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2397:Krt84
|
UTSW |
15 |
101,438,689 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4722:Krt84
|
UTSW |
15 |
101,436,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:Krt84
|
UTSW |
15 |
101,438,689 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5807:Krt84
|
UTSW |
15 |
101,438,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5978:Krt84
|
UTSW |
15 |
101,438,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6524:Krt84
|
UTSW |
15 |
101,441,187 (GRCm39) |
missense |
unknown |
|
|
R7032:Krt84
|
UTSW |
15 |
101,436,924 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7155:Krt84
|
UTSW |
15 |
101,440,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7159:Krt84
|
UTSW |
15 |
101,438,044 (GRCm39) |
nonsense |
probably null |
|
|
R7882:Krt84
|
UTSW |
15 |
101,436,826 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8492:Krt84
|
UTSW |
15 |
101,438,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8886:Krt84
|
UTSW |
15 |
101,437,221 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8944:Krt84
|
UTSW |
15 |
101,437,183 (GRCm39) |
missense |
probably benign |
0.27 |
|
R9076:Krt84
|
UTSW |
15 |
101,438,098 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9081:Krt84
|
UTSW |
15 |
101,440,814 (GRCm39) |
missense |
unknown |
|
|
R9082:Krt84
|
UTSW |
15 |
101,440,814 (GRCm39) |
missense |
unknown |
|
|
R9141:Krt84
|
UTSW |
15 |
101,440,974 (GRCm39) |
missense |
probably benign |
|
|
R9535:Krt84
|
UTSW |
15 |
101,438,016 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Krt84
|
UTSW |
15 |
101,434,417 (GRCm39) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTGTCACAGTGCTGGC -3'
(R):5'- GAGAAGCAATGCTCCCTGTC -3'
Sequencing Primer
(F):5'- CTGGCCAGCGGTCACCC -3'
(R):5'- AGCTGCTGATGGACCACTGAG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation