Incidental Mutation 'R1999:Krt84'
| ID |
224790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt84
|
| Ensembl Gene |
ENSMUSG00000044294 |
| Gene Name |
keratin 84 |
| Synonyms |
Krt2-16, Krt2-3, HRb-1 |
| MMRRC Submission |
040009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R1999 (G1)
|
| Quality Score |
180 |
|
Status
|
Not 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: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
T |
A |
12: 84,056,527 (GRCm39) |
W82R |
probably damaging |
Het |
| Adprm |
A |
G |
11: 66,929,055 (GRCm39) |
V312A |
probably benign |
Het |
| Ambp |
C |
T |
4: 63,067,666 (GRCm39) |
M181I |
possibly damaging |
Het |
| Anln |
A |
G |
9: 22,244,348 (GRCm39) |
*1122Q |
probably null |
Het |
| Apc2 |
C |
T |
10: 80,144,994 (GRCm39) |
T635I |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,027,436 (GRCm39) |
E2G |
possibly damaging |
Het |
| Bltp1 |
C |
T |
3: 36,962,360 (GRCm39) |
T487I |
probably damaging |
Het |
| Ccdc63 |
C |
G |
5: 122,265,628 (GRCm39) |
A71P |
possibly damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,481,172 (GRCm39) |
K306N |
possibly damaging |
Het |
| Cep295nl |
T |
C |
11: 118,223,915 (GRCm39) |
R310G |
probably damaging |
Het |
| Ces2h |
A |
G |
8: 105,746,977 (GRCm39) |
T538A |
probably benign |
Het |
| Dab2 |
T |
C |
15: 6,446,398 (GRCm39) |
V5A |
probably benign |
Het |
| Diaph3 |
T |
A |
14: 87,222,302 (GRCm39) |
D405V |
possibly damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,632,857 (GRCm39) |
|
probably null |
Het |
| Epha7 |
C |
T |
4: 28,938,686 (GRCm39) |
Q514* |
probably null |
Het |
| Etfb |
C |
T |
7: 43,103,987 (GRCm39) |
L141F |
probably benign |
Het |
| Fat1 |
T |
C |
8: 45,405,430 (GRCm39) |
V727A |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,536,824 (GRCm39) |
Y1265H |
probably benign |
Het |
| Fndc3c1 |
C |
T |
X: 105,464,311 (GRCm39) |
E1276K |
probably benign |
Het |
| Ghdc |
T |
C |
11: 100,660,018 (GRCm39) |
E243G |
probably benign |
Het |
| Gpld1 |
T |
C |
13: 25,146,630 (GRCm39) |
V225A |
probably benign |
Het |
| Herc1 |
A |
G |
9: 66,393,360 (GRCm39) |
T4080A |
probably benign |
Het |
| Hoxa3 |
A |
C |
6: 52,147,382 (GRCm39) |
Y290* |
probably null |
Het |
| Htr5a |
G |
A |
5: 28,055,887 (GRCm39) |
V293M |
possibly damaging |
Het |
| Itgb7 |
C |
T |
15: 102,130,553 (GRCm39) |
V378M |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,472,428 (GRCm39) |
S811G |
probably null |
Het |
| Kcnt1 |
T |
A |
2: 25,782,372 (GRCm39) |
H156Q |
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,988,517 (GRCm39) |
N507S |
probably damaging |
Het |
| Manea |
A |
G |
4: 26,327,871 (GRCm39) |
L390P |
probably damaging |
Het |
| Mboat2 |
A |
G |
12: 24,996,672 (GRCm39) |
D225G |
possibly damaging |
Het |
| Medag |
T |
A |
5: 149,350,717 (GRCm39) |
F64Y |
probably damaging |
Het |
| Mtmr6 |
T |
A |
14: 60,530,856 (GRCm39) |
S331R |
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 |
| Nomo1 |
T |
C |
7: 45,706,151 (GRCm39) |
S502P |
possibly damaging |
Het |
| Or10g6 |
A |
G |
9: 39,933,985 (GRCm39) |
I99V |
probably benign |
Het |
| Or3a1b |
A |
G |
11: 74,012,406 (GRCm39) |
Y97C |
probably benign |
Het |
| Or8k30 |
T |
A |
2: 86,339,089 (GRCm39) |
Y95* |
probably null |
Het |
| Otof |
T |
A |
5: 30,546,116 (GRCm39) |
E427D |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,727,094 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
T |
G |
15: 44,363,378 (GRCm39) |
|
probably null |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Rad21l |
T |
C |
2: 151,496,621 (GRCm39) |
|
probably null |
Het |
| Rbbp6 |
T |
C |
7: 122,589,575 (GRCm39) |
V459A |
probably damaging |
Het |
| Rsbn1l |
G |
A |
5: 21,107,368 (GRCm39) |
H549Y |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Senp1 |
C |
T |
15: 97,956,196 (GRCm39) |
V408I |
possibly damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,964,130 (GRCm39) |
F499L |
possibly damaging |
Het |
| Slitrk3 |
C |
T |
3: 72,957,297 (GRCm39) |
V492I |
probably benign |
Het |
| Spef2 |
T |
A |
15: 9,668,989 (GRCm39) |
|
probably null |
Het |
| Ssc5d |
A |
T |
7: 4,945,713 (GRCm39) |
D915V |
possibly damaging |
Het |
| Stard9 |
A |
G |
2: 120,523,349 (GRCm39) |
D668G |
probably damaging |
Het |
| Sycp2l |
A |
G |
13: 41,271,780 (GRCm39) |
D73G |
probably benign |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Tmem8b |
G |
A |
4: 43,681,300 (GRCm39) |
C439Y |
probably damaging |
Het |
| Vmn1r195 |
C |
G |
13: 22,462,934 (GRCm39) |
L135V |
possibly damaging |
Het |
| Vmn1r74 |
G |
T |
7: 11,581,302 (GRCm39) |
V201F |
probably damaging |
Het |
| Vmn2r-ps158 |
A |
T |
7: 42,696,883 (GRCm39) |
I647F |
probably damaging |
Het |
| Zfp956 |
G |
A |
6: 47,940,805 (GRCm39) |
R388H |
probably damaging |
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 |
|
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 |
|
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'- AATATGGCTGTGGAGACGCC -3'
(R):5'- CTTCTACATTGCAGTAGGGAAAGAG -3'
Sequencing Primer
(F):5'- TGTGGAGACGCCTACCTC -3'
(R):5'- TCTGTAGGAACTGATGGACCCTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation