Incidental Mutation 'R5978:Krt84'
| ID |
481263 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt84
|
| Ensembl Gene |
ENSMUSG00000044294 |
| Gene Name |
keratin 84 |
| Synonyms |
Krt2-16, Krt2-3, HRb-1 |
| MMRRC Submission |
044160-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.130)
|
| Stock # |
R5978 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101433461-101441255 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101438665 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 274
(E274G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023720]
|
| AlphaFold |
Q99M73 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023720
AA Change: E274G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023720
Gene: ENSMUSG00000044294
AA Change: E274G
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anks6 |
T |
A |
4: 47,049,252 (GRCm39) |
S218C |
probably damaging |
Het |
| Atp2c2 |
G |
A |
8: 120,476,614 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
G |
5: 21,521,966 (GRCm39) |
I353L |
probably benign |
Het |
| Cst3 |
A |
T |
2: 148,714,741 (GRCm39) |
M112K |
probably benign |
Het |
| Cst3 |
T |
G |
2: 148,714,742 (GRCm39) |
M112L |
probably benign |
Het |
| Cyp2j11 |
A |
C |
4: 96,207,589 (GRCm39) |
L242R |
probably damaging |
Het |
| Eif5b |
T |
C |
1: 38,037,361 (GRCm39) |
|
probably null |
Het |
| Espl1 |
A |
G |
15: 102,224,209 (GRCm39) |
I1253M |
possibly damaging |
Het |
| Fstl5 |
C |
T |
3: 76,052,392 (GRCm39) |
H41Y |
probably damaging |
Het |
| Gm11011 |
T |
C |
2: 169,426,361 (GRCm39) |
K84R |
unknown |
Het |
| Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
C |
A |
17: 79,113,465 (GRCm39) |
V923F |
probably damaging |
Het |
| Hnrnpll |
G |
A |
17: 80,341,620 (GRCm39) |
T473M |
probably damaging |
Het |
| Iars1 |
T |
A |
13: 49,876,469 (GRCm39) |
Y845N |
probably damaging |
Het |
| Il34 |
T |
A |
8: 111,469,317 (GRCm39) |
D166V |
probably damaging |
Het |
| Kel |
T |
A |
6: 41,664,979 (GRCm39) |
H595L |
probably benign |
Het |
| Krt77 |
T |
C |
15: 101,771,363 (GRCm39) |
I313M |
probably benign |
Het |
| Mctp2 |
T |
C |
7: 71,739,936 (GRCm39) |
Y818C |
probably damaging |
Het |
| Mrc1 |
A |
T |
2: 14,320,204 (GRCm39) |
Y1046F |
probably damaging |
Het |
| Myom1 |
A |
T |
17: 71,424,438 (GRCm39) |
D1429V |
probably damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,388,291 (GRCm39) |
M325T |
possibly damaging |
Het |
| Nf1 |
T |
A |
11: 79,431,245 (GRCm39) |
I1902N |
probably damaging |
Het |
| Nkain3 |
A |
T |
4: 20,485,026 (GRCm39) |
|
probably null |
Het |
| Nlrc5 |
A |
T |
8: 95,215,221 (GRCm39) |
N940Y |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,256,703 (GRCm39) |
I107K |
probably damaging |
Het |
| Ntn5 |
T |
C |
7: 45,343,437 (GRCm39) |
S328P |
possibly damaging |
Het |
| Or1j17 |
A |
C |
2: 36,578,694 (GRCm39) |
K227Q |
probably benign |
Het |
| Parp8 |
A |
C |
13: 117,032,268 (GRCm39) |
S302A |
probably benign |
Het |
| Ptgr2 |
G |
T |
12: 84,342,032 (GRCm39) |
E27* |
probably null |
Het |
| Rnf115 |
T |
A |
3: 96,695,982 (GRCm39) |
I256N |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,502,614 (GRCm39) |
H3515L |
probably benign |
Het |
| Scel |
A |
G |
14: 103,766,690 (GRCm39) |
|
probably null |
Het |
| Slc4a5 |
T |
A |
6: 83,254,518 (GRCm39) |
S572T |
probably benign |
Het |
| Slc4a9 |
T |
G |
18: 36,668,456 (GRCm39) |
I705S |
probably damaging |
Het |
| Spint4 |
C |
T |
2: 164,542,252 (GRCm39) |
P101L |
probably damaging |
Het |
| Syt9 |
T |
A |
7: 107,035,620 (GRCm39) |
D212E |
probably benign |
Het |
| Tmem39a |
T |
A |
16: 38,411,392 (GRCm39) |
M449K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,639,143 (GRCm39) |
T13877A |
possibly damaging |
Het |
| Ube2v2 |
T |
C |
16: 15,394,991 (GRCm39) |
N20S |
probably benign |
Het |
| Vmn1r14 |
C |
T |
6: 57,210,929 (GRCm39) |
S169F |
probably benign |
Het |
| Vps13d |
T |
C |
4: 144,849,181 (GRCm39) |
H2410R |
probably benign |
Het |
| Wdr81 |
G |
A |
11: 75,335,224 (GRCm39) |
L1781F |
probably damaging |
Het |
| Zfp91 |
A |
G |
19: 12,747,515 (GRCm39) |
I536T |
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 |
|
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 |
|
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'- TATGCCCTTCCTGACCAAAC -3'
(R):5'- GAGATATGATAAACCTGCGAGTGGC -3'
Sequencing Primer
(F):5'- AGCAGTTTTAGCCACCAC -3'
(R):5'- GTGGCAATAGAGAACCAAGTCCTTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation