Incidental Mutation 'R2150:Krt84'
| ID |
234225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt84
|
| Ensembl Gene |
ENSMUSG00000044294 |
| Gene Name |
keratin 84 |
| Synonyms |
Krt2-16, Krt2-3, HRb-1 |
| MMRRC Submission |
040153-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R2150 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
101433461-101441255 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101438019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 312
(E312G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023720]
|
| AlphaFold |
Q99M73 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023720
AA Change: E312G
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000023720
Gene: ENSMUSG00000044294
AA Change: E312G
| 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 |
0.1231 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
98% (59/60) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
C |
T |
8: 88,312,691 (GRCm39) |
Q159* |
probably null |
Het |
| Abca12 |
C |
A |
1: 71,302,647 (GRCm39) |
V2191L |
probably benign |
Het |
| Adam34 |
A |
G |
8: 44,105,538 (GRCm39) |
Y36H |
probably benign |
Het |
| Adprm |
A |
G |
11: 66,929,055 (GRCm39) |
V312A |
probably benign |
Het |
| Anapc2 |
T |
C |
2: 25,162,682 (GRCm39) |
L52P |
probably benign |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| Apoc4 |
T |
A |
7: 19,412,560 (GRCm39) |
T62S |
probably damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,027,436 (GRCm39) |
E2G |
possibly damaging |
Het |
| Atg4c |
C |
A |
4: 99,109,463 (GRCm39) |
N143K |
possibly damaging |
Het |
| C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
| Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
| Ccdc63 |
C |
G |
5: 122,265,628 (GRCm39) |
A71P |
possibly damaging |
Het |
| Cdca2 |
T |
C |
14: 67,952,258 (GRCm39) |
K38E |
probably damaging |
Het |
| Cyp2j11 |
G |
A |
4: 96,204,595 (GRCm39) |
T317I |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,446,398 (GRCm39) |
V5A |
probably benign |
Het |
| Dennd3 |
A |
T |
15: 73,426,909 (GRCm39) |
H762L |
probably benign |
Het |
| Disp1 |
A |
G |
1: 182,869,936 (GRCm39) |
F828S |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,406,587 (GRCm39) |
M552V |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,179,472 (GRCm39) |
|
probably null |
Het |
| Dsel |
A |
T |
1: 111,787,987 (GRCm39) |
N849K |
probably benign |
Het |
| Fah |
A |
T |
7: 84,244,042 (GRCm39) |
I239N |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,536,824 (GRCm39) |
Y1265H |
probably benign |
Het |
| Ghdc |
T |
C |
11: 100,660,018 (GRCm39) |
E243G |
probably benign |
Het |
| Glb1 |
T |
C |
9: 114,279,716 (GRCm39) |
Y375H |
probably damaging |
Het |
| Gm6619 |
A |
G |
6: 131,466,021 (GRCm39) |
I40V |
probably benign |
Het |
| Gpld1 |
T |
C |
13: 25,146,630 (GRCm39) |
V225A |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,391,921 (GRCm39) |
|
probably benign |
Het |
| Igdcc4 |
A |
G |
9: 65,032,617 (GRCm39) |
I542V |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,245,633 (GRCm39) |
L1200P |
probably damaging |
Het |
| Itgb7 |
C |
T |
15: 102,130,553 (GRCm39) |
V378M |
probably damaging |
Het |
| Man2a2 |
A |
G |
7: 80,017,532 (GRCm39) |
W250R |
probably damaging |
Het |
| Mcam |
T |
C |
9: 44,047,932 (GRCm39) |
V59A |
probably damaging |
Het |
| Mfrp |
T |
C |
9: 44,015,015 (GRCm39) |
L314P |
probably benign |
Het |
| Mgat5 |
T |
C |
1: 127,396,987 (GRCm39) |
V578A |
probably damaging |
Het |
| Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
| Myh1 |
A |
C |
11: 67,113,234 (GRCm39) |
D1873A |
probably benign |
Het |
| Nek9 |
A |
G |
12: 85,376,677 (GRCm39) |
W235R |
probably damaging |
Het |
| Or9g19 |
T |
C |
2: 85,600,342 (GRCm39) |
S66P |
probably damaging |
Het |
| Parvb |
A |
G |
15: 84,116,369 (GRCm39) |
K33E |
possibly damaging |
Het |
| Pecr |
T |
C |
1: 72,316,517 (GRCm39) |
R63G |
possibly damaging |
Het |
| Pkhd1l1 |
T |
G |
15: 44,363,378 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
T |
C |
6: 140,516,129 (GRCm39) |
V270A |
probably damaging |
Het |
| Prr14l |
T |
C |
5: 32,988,046 (GRCm39) |
D483G |
probably benign |
Het |
| Rimkla |
T |
A |
4: 119,331,779 (GRCm39) |
M140L |
possibly damaging |
Het |
| Senp1 |
C |
T |
15: 97,956,196 (GRCm39) |
V408I |
possibly damaging |
Het |
| Stambpl1 |
T |
A |
19: 34,204,104 (GRCm39) |
Y65N |
probably damaging |
Het |
| Tada2a |
T |
C |
11: 83,970,455 (GRCm39) |
D432G |
probably damaging |
Het |
| Themis |
T |
A |
10: 28,544,723 (GRCm39) |
I23N |
probably damaging |
Het |
| Thnsl1 |
T |
C |
2: 21,217,344 (GRCm39) |
I366T |
probably benign |
Het |
| Tmem131 |
C |
A |
1: 36,851,690 (GRCm39) |
V938L |
probably benign |
Het |
| Tmem178b |
A |
T |
6: 40,184,435 (GRCm39) |
Q111L |
probably damaging |
Het |
| Vmn1r195 |
C |
G |
13: 22,462,934 (GRCm39) |
L135V |
possibly damaging |
Het |
| Vmn2r-ps36 |
C |
T |
7: 7,431,539 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp956 |
G |
A |
6: 47,940,805 (GRCm39) |
R388H |
probably damaging |
Het |
| Zfr2 |
T |
G |
10: 81,077,950 (GRCm39) |
V259G |
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 |
|
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 |
|
R5634:Krt84
|
UTSW |
15 |
101,437,084 (GRCm39) |
missense |
probably benign |
0.30 |
|
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'- CCACAGATGATGGGAGTTCATTG -3'
(R):5'- TAGGAACTGATGGACCCTCC -3'
Sequencing Primer
(F):5'- CTTAATATGGCTGTGGAGACGCC -3'
(R):5'- GGAACTGATGGACCCTCCTGTATATC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation