Incidental Mutation 'R8729:Krt78'
| ID |
662669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt78
|
| Ensembl Gene |
ENSMUSG00000050463 |
| Gene Name |
keratin 78 |
| Synonyms |
2310030B04Rik |
| MMRRC Submission |
068577-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R8729 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 101855455 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 785
(Q785H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
| AlphaFold |
E9Q0F0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164932
AA Change: Q785H
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: Q785H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
2 |
101 |
5.7e-16 |
PFAM |
|
Filament
|
104 |
417 |
1.38e-133 |
SMART |
|
internal_repeat_1
|
421 |
660 |
8.87e-74 |
PROSPERO |
|
internal_repeat_1
|
704 |
957 |
8.87e-74 |
PROSPERO |
|
low complexity region
|
1033 |
1049 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the type II keratin gene family and encodes a protein with an intermediate filament domain. Keratins are the major structural proteins in epithelial cells, forming a cytoplasmic network of 10 to 12 nm wide intermediate filaments and creating a scaffold that gives cells the ability to withstand mechanical and non-mechanical stresses. The genes of the type II keratin family are located as a gene cluster at 12p13.13. Four pseudogenes of this gene family have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,468,176 (GRCm39) |
Y148* |
probably null |
Het |
| Ank3 |
A |
G |
10: 69,838,428 (GRCm39) |
D1812G |
possibly damaging |
Het |
| Ankrd17 |
C |
T |
5: 90,443,452 (GRCm39) |
C405Y |
probably benign |
Het |
| Ankrd61 |
A |
G |
5: 143,827,803 (GRCm39) |
Y391H |
probably benign |
Het |
| Calcb |
A |
C |
7: 114,319,428 (GRCm39) |
E70A |
probably benign |
Het |
| Ccr1 |
T |
C |
9: 123,763,831 (GRCm39) |
K233R |
probably benign |
Het |
| Ccz1 |
T |
C |
5: 143,948,310 (GRCm39) |
D115G |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,310,893 (GRCm39) |
L1203* |
probably null |
Het |
| Csmd2 |
G |
A |
4: 128,356,638 (GRCm39) |
D1648N |
|
Het |
| Csn1s1 |
T |
C |
5: 87,824,998 (GRCm39) |
|
probably null |
Het |
| Depp1 |
C |
A |
6: 116,628,762 (GRCm39) |
P35H |
probably damaging |
Het |
| Eif2ak3 |
C |
A |
6: 70,821,864 (GRCm39) |
P52Q |
probably benign |
Het |
| Galnt18 |
T |
C |
7: 111,119,198 (GRCm39) |
E441G |
probably null |
Het |
| Gpat2 |
C |
A |
2: 127,275,739 (GRCm39) |
Q506K |
probably damaging |
Het |
| Gramd1a |
C |
A |
7: 30,843,248 (GRCm39) |
R20L |
possibly damaging |
Het |
| Helz |
G |
T |
11: 107,528,754 (GRCm39) |
|
probably null |
Het |
| Hif1a |
A |
G |
12: 73,990,902 (GRCm39) |
N725D |
probably damaging |
Het |
| Ighv3-3 |
A |
T |
12: 114,160,252 (GRCm39) |
W53R |
possibly damaging |
Het |
| Kat2a |
T |
C |
11: 100,601,337 (GRCm39) |
K331R |
probably benign |
Het |
| Klk1b4 |
T |
A |
7: 43,856,884 (GRCm39) |
F3I |
probably damaging |
Het |
| Lsm11 |
C |
T |
11: 45,835,727 (GRCm39) |
E5K |
possibly damaging |
Het |
| Luzp2 |
A |
G |
7: 54,816,985 (GRCm39) |
K145R |
probably damaging |
Het |
| Man2b2 |
T |
C |
5: 36,973,462 (GRCm39) |
T506A |
probably benign |
Het |
| Msrb3 |
A |
C |
10: 120,687,974 (GRCm39) |
C34G |
probably null |
Het |
| Muc16 |
T |
C |
9: 18,571,346 (GRCm39) |
D391G |
unknown |
Het |
| Mybpc2 |
C |
T |
7: 44,155,611 (GRCm39) |
V881M |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,881,851 (GRCm39) |
K31R |
probably damaging |
Het |
| Ndnf |
A |
T |
6: 65,680,758 (GRCm39) |
K346* |
probably null |
Het |
| Nfs1 |
G |
A |
2: 155,965,727 (GRCm39) |
T118I |
probably benign |
Het |
| Niban2 |
T |
A |
2: 32,799,946 (GRCm39) |
L91Q |
probably damaging |
Het |
| Nlrp9c |
T |
G |
7: 26,071,428 (GRCm39) |
K893N |
probably benign |
Het |
| Nmd3 |
A |
T |
3: 69,655,682 (GRCm39) |
K454N |
possibly damaging |
Het |
| Or5ae1 |
T |
C |
7: 84,565,523 (GRCm39) |
C179R |
probably damaging |
Het |
| Pcdhb9 |
C |
A |
18: 37,535,639 (GRCm39) |
D544E |
possibly damaging |
Het |
| Pck1 |
A |
G |
2: 172,997,866 (GRCm39) |
I312V |
probably damaging |
Het |
| Pkd2l2 |
G |
A |
18: 34,566,354 (GRCm39) |
V522I |
probably benign |
Het |
| Polr3c |
C |
T |
3: 96,634,796 (GRCm39) |
|
probably benign |
Het |
| Prkd2 |
T |
A |
7: 16,583,052 (GRCm39) |
H271Q |
probably damaging |
Het |
| Rpp21 |
A |
G |
17: 36,566,927 (GRCm39) |
S59P |
probably benign |
Het |
| Rxfp4 |
T |
A |
3: 88,559,305 (GRCm39) |
N382I |
unknown |
Het |
| Sirt1 |
A |
G |
10: 63,156,705 (GRCm39) |
F642L |
probably damaging |
Het |
| Sp2 |
T |
C |
11: 96,852,099 (GRCm39) |
D275G |
possibly damaging |
Het |
| Speer4a3 |
A |
G |
5: 26,158,178 (GRCm39) |
V58A |
probably damaging |
Het |
| Srp72 |
C |
T |
5: 77,142,005 (GRCm39) |
T414I |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,179,275 (GRCm39) |
M4400L |
probably benign |
Het |
| Tbx15 |
A |
T |
3: 99,220,376 (GRCm39) |
H156L |
possibly damaging |
Het |
| Tbxas1 |
G |
T |
6: 38,978,272 (GRCm39) |
M140I |
probably benign |
Het |
| Tcof1 |
G |
T |
18: 60,962,145 (GRCm39) |
P695T |
unknown |
Het |
| Tmprss9 |
A |
T |
10: 80,726,177 (GRCm39) |
M476L |
probably benign |
Het |
| Trat1 |
A |
T |
16: 48,562,591 (GRCm39) |
I73N |
probably damaging |
Het |
| Trp53bp2 |
A |
T |
1: 182,276,587 (GRCm39) |
E856V |
probably benign |
Het |
| Ttc28 |
T |
A |
5: 111,383,509 (GRCm39) |
|
probably null |
Het |
| Ttn |
AC |
A |
2: 76,749,528 (GRCm39) |
|
probably null |
Het |
| Twf1 |
T |
C |
15: 94,479,212 (GRCm39) |
N216D |
probably benign |
Het |
| Unc80 |
C |
A |
1: 66,647,649 (GRCm39) |
H1530N |
probably benign |
Het |
| Vmn1r235 |
A |
T |
17: 21,481,875 (GRCm39) |
M67L |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,767,239 (GRCm39) |
Y753N |
probably damaging |
Het |
| Zkscan5 |
T |
A |
5: 145,157,071 (GRCm39) |
N524K |
probably benign |
Het |
|
| Other mutations in Krt78 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Krt78
|
APN |
15 |
101,855,945 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01358:Krt78
|
APN |
15 |
101,854,698 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01723:Krt78
|
APN |
15 |
101,860,233 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01743:Krt78
|
APN |
15 |
101,859,333 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01778:Krt78
|
APN |
15 |
101,859,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01792:Krt78
|
APN |
15 |
101,855,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02271:Krt78
|
APN |
15 |
101,857,028 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02481:Krt78
|
APN |
15 |
101,856,853 (GRCm39) |
splice site |
probably benign |
|
|
IGL02494:Krt78
|
APN |
15 |
101,862,486 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02708:Krt78
|
APN |
15 |
101,861,842 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02747:Krt78
|
APN |
15 |
101,858,819 (GRCm39) |
splice site |
probably benign |
|
|
IGL02997:Krt78
|
APN |
15 |
101,855,598 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL03350:Krt78
|
APN |
15 |
101,854,952 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03410:Krt78
|
APN |
15 |
101,862,421 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4812001:Krt78
|
UTSW |
15 |
101,856,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0090:Krt78
|
UTSW |
15 |
101,856,272 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0513:Krt78
|
UTSW |
15 |
101,859,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0908:Krt78
|
UTSW |
15 |
101,859,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1067:Krt78
|
UTSW |
15 |
101,854,896 (GRCm39) |
nonsense |
probably null |
|
|
R1070:Krt78
|
UTSW |
15 |
101,854,728 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1194:Krt78
|
UTSW |
15 |
101,860,221 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1213:Krt78
|
UTSW |
15 |
101,860,245 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1467:Krt78
|
UTSW |
15 |
101,854,728 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1467:Krt78
|
UTSW |
15 |
101,854,728 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1612:Krt78
|
UTSW |
15 |
101,860,279 (GRCm39) |
splice site |
probably null |
|
|
R1750:Krt78
|
UTSW |
15 |
101,854,812 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1796:Krt78
|
UTSW |
15 |
101,859,300 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1863:Krt78
|
UTSW |
15 |
101,855,004 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1901:Krt78
|
UTSW |
15 |
101,855,398 (GRCm39) |
nonsense |
probably null |
|
|
R1902:Krt78
|
UTSW |
15 |
101,855,398 (GRCm39) |
nonsense |
probably null |
|
|
R1975:Krt78
|
UTSW |
15 |
101,854,603 (GRCm39) |
makesense |
probably null |
|
|
R2105:Krt78
|
UTSW |
15 |
101,855,849 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2418:Krt78
|
UTSW |
15 |
101,855,069 (GRCm39) |
missense |
probably benign |
|
|
R2421:Krt78
|
UTSW |
15 |
101,855,699 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2422:Krt78
|
UTSW |
15 |
101,855,699 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2443:Krt78
|
UTSW |
15 |
101,855,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2897:Krt78
|
UTSW |
15 |
101,855,541 (GRCm39) |
missense |
probably benign |
|
|
R4422:Krt78
|
UTSW |
15 |
101,856,375 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4424:Krt78
|
UTSW |
15 |
101,856,375 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4425:Krt78
|
UTSW |
15 |
101,856,375 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4583:Krt78
|
UTSW |
15 |
101,855,055 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4752:Krt78
|
UTSW |
15 |
101,856,637 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4927:Krt78
|
UTSW |
15 |
101,855,334 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5129:Krt78
|
UTSW |
15 |
101,856,015 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5391:Krt78
|
UTSW |
15 |
101,860,263 (GRCm39) |
nonsense |
probably null |
|
|
R5575:Krt78
|
UTSW |
15 |
101,855,787 (GRCm39) |
nonsense |
probably null |
|
|
R5617:Krt78
|
UTSW |
15 |
101,856,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5806:Krt78
|
UTSW |
15 |
101,858,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5906:Krt78
|
UTSW |
15 |
101,857,030 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5993:Krt78
|
UTSW |
15 |
101,858,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6520:Krt78
|
UTSW |
15 |
101,860,206 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6531:Krt78
|
UTSW |
15 |
101,860,708 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6587:Krt78
|
UTSW |
15 |
101,860,704 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6749:Krt78
|
UTSW |
15 |
101,859,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7126:Krt78
|
UTSW |
15 |
101,856,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7158:Krt78
|
UTSW |
15 |
101,860,241 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7229:Krt78
|
UTSW |
15 |
101,855,829 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7523:Krt78
|
UTSW |
15 |
101,855,036 (GRCm39) |
missense |
not run |
|
|
R7638:Krt78
|
UTSW |
15 |
101,859,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Krt78
|
UTSW |
15 |
101,856,624 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8013:Krt78
|
UTSW |
15 |
101,856,977 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8085:Krt78
|
UTSW |
15 |
101,855,715 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8209:Krt78
|
UTSW |
15 |
101,855,480 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8226:Krt78
|
UTSW |
15 |
101,855,480 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8309:Krt78
|
UTSW |
15 |
101,854,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8728:Krt78
|
UTSW |
15 |
101,856,225 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8887:Krt78
|
UTSW |
15 |
101,861,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9008:Krt78
|
UTSW |
15 |
101,855,211 (GRCm39) |
small deletion |
probably benign |
|
|
X0018:Krt78
|
UTSW |
15 |
101,860,235 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
Z1088:Krt78
|
UTSW |
15 |
101,855,766 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1177:Krt78
|
UTSW |
15 |
101,856,095 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATATTCTCTCCCAGGCACGGTC -3'
(R):5'- AATATGGAGGCCAGGTGACC -3'
Sequencing Primer
(F):5'- ACATTCTCCTCTAGGCACGG -3'
(R):5'- CCATGCCTGGAAGAGAATCTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation