Incidental Mutation 'R5806:Krt78'
| ID |
448545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krt78
|
| Ensembl Gene |
ENSMUSG00000050463 |
| Gene Name |
keratin 78 |
| Synonyms |
2310030B04Rik |
| MMRRC Submission |
043392-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R5806 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
101854436-101862722 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101858937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 305
(L305P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126197
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164932]
|
| AlphaFold |
E9Q0F0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164932
AA Change: L305P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126197
Gene: ENSMUSG00000050463
AA Change: L305P
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,388,731 (GRCm39) |
M216T |
probably benign |
Het |
| Abhd4 |
A |
G |
14: 54,499,147 (GRCm39) |
N36D |
probably benign |
Het |
| Ankra2 |
T |
C |
13: 98,405,005 (GRCm39) |
|
probably null |
Het |
| Btd |
A |
G |
14: 31,389,469 (GRCm39) |
T397A |
probably benign |
Het |
| Ccbe1 |
T |
A |
18: 66,209,426 (GRCm39) |
K205* |
probably null |
Het |
| Clspn |
A |
G |
4: 126,479,899 (GRCm39) |
K1081E |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,230,445 (GRCm39) |
S1548P |
possibly damaging |
Het |
| Coq8b |
T |
A |
7: 26,950,050 (GRCm39) |
Y376* |
probably null |
Het |
| Cpxm1 |
C |
A |
2: 130,239,393 (GRCm39) |
A12S |
probably damaging |
Het |
| Cttn |
T |
C |
7: 144,015,005 (GRCm39) |
T68A |
probably damaging |
Het |
| Cyp2a12 |
T |
A |
7: 26,728,504 (GRCm39) |
|
probably null |
Het |
| Ddx46 |
A |
G |
13: 55,811,150 (GRCm39) |
Q582R |
possibly damaging |
Het |
| Ddx55 |
A |
G |
5: 124,697,262 (GRCm39) |
E208G |
probably damaging |
Het |
| Dnaaf4 |
T |
C |
9: 72,869,336 (GRCm39) |
L182P |
probably benign |
Het |
| Dync1h1 |
A |
T |
12: 110,618,087 (GRCm39) |
T3209S |
probably damaging |
Het |
| Ep400 |
A |
T |
5: 110,903,420 (GRCm39) |
L393* |
probably null |
Het |
| Ern1 |
G |
C |
11: 106,289,531 (GRCm39) |
S924C |
probably damaging |
Het |
| Fanci |
T |
C |
7: 79,098,596 (GRCm39) |
I1249T |
probably damaging |
Het |
| Fgfbp3 |
T |
G |
19: 36,895,949 (GRCm39) |
D223A |
probably damaging |
Het |
| Frmd6 |
T |
C |
12: 70,936,794 (GRCm39) |
L313P |
probably damaging |
Het |
| Galnt17 |
A |
G |
5: 130,906,657 (GRCm39) |
Y504H |
probably damaging |
Het |
| Gjb5 |
A |
G |
4: 127,249,718 (GRCm39) |
I142T |
probably benign |
Het |
| Gvin1 |
T |
C |
7: 105,757,413 (GRCm39) |
D2352G |
probably benign |
Het |
| H2-M2 |
G |
A |
17: 37,792,617 (GRCm39) |
T218I |
probably damaging |
Het |
| Hal |
A |
G |
10: 93,326,846 (GRCm39) |
T161A |
probably damaging |
Het |
| Helb |
G |
A |
10: 119,928,424 (GRCm39) |
R806C |
probably damaging |
Het |
| Ift80 |
T |
A |
3: 68,857,809 (GRCm39) |
I279F |
probably benign |
Het |
| Itln1 |
A |
T |
1: 171,358,720 (GRCm39) |
I149N |
possibly damaging |
Het |
| Kcnt2 |
A |
C |
1: 140,437,234 (GRCm39) |
T556P |
probably damaging |
Het |
| Klk1b22 |
A |
T |
7: 43,765,301 (GRCm39) |
E84D |
possibly damaging |
Het |
| Lzts2 |
T |
C |
19: 45,014,806 (GRCm39) |
|
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,265,680 (GRCm39) |
L6843P |
probably damaging |
Het |
| Magi2 |
C |
A |
5: 20,856,202 (GRCm39) |
H841Q |
probably benign |
Het |
| Mdm1 |
A |
T |
10: 118,002,563 (GRCm39) |
H628L |
probably benign |
Het |
| Med23 |
A |
G |
10: 24,783,119 (GRCm39) |
D734G |
probably damaging |
Het |
| Mfsd13a |
T |
C |
19: 46,354,849 (GRCm39) |
W9R |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,306,334 (GRCm39) |
H576R |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,572 (GRCm39) |
T3173A |
possibly damaging |
Het |
| Mx1 |
A |
T |
16: 97,255,351 (GRCm39) |
V234E |
possibly damaging |
Het |
| Myh2 |
T |
C |
11: 67,072,141 (GRCm39) |
L623P |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,581,243 (GRCm39) |
M1I |
probably null |
Het |
| Ncapd2 |
A |
T |
6: 125,158,117 (GRCm39) |
V337E |
probably damaging |
Het |
| Nit2 |
G |
A |
16: 56,982,056 (GRCm39) |
T64M |
possibly damaging |
Het |
| Or1e34 |
A |
T |
11: 73,778,373 (GRCm39) |
M275K |
probably damaging |
Het |
| Or4c103 |
T |
C |
2: 88,513,495 (GRCm39) |
N194D |
probably damaging |
Het |
| Or6e1 |
A |
T |
14: 54,520,264 (GRCm39) |
F29L |
probably benign |
Het |
| Otub2 |
A |
G |
12: 103,369,656 (GRCm39) |
E245G |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,178,548 (GRCm39) |
K524R |
probably damaging |
Het |
| Pih1d2 |
C |
T |
9: 50,529,750 (GRCm39) |
|
probably benign |
Het |
| Pik3cg |
T |
A |
12: 32,254,952 (GRCm39) |
D345V |
possibly damaging |
Het |
| Plekhg4 |
A |
T |
8: 106,105,542 (GRCm39) |
Q669L |
possibly damaging |
Het |
| Prlr |
A |
T |
15: 10,319,290 (GRCm39) |
Y73F |
probably damaging |
Het |
| Ptk6 |
T |
C |
2: 180,841,523 (GRCm39) |
I129V |
possibly damaging |
Het |
| Ranbp3 |
A |
T |
17: 57,017,717 (GRCm39) |
T458S |
probably benign |
Het |
| Ren1 |
T |
A |
1: 133,283,249 (GRCm39) |
Y128* |
probably null |
Het |
| Rimkla |
A |
T |
4: 119,325,663 (GRCm39) |
S249T |
probably damaging |
Het |
| Rnf222 |
T |
C |
11: 68,783,789 (GRCm39) |
S119P |
possibly damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,805,251 (GRCm39) |
E1007V |
probably benign |
Het |
| Septin11 |
G |
A |
5: 93,315,437 (GRCm39) |
E389K |
probably benign |
Het |
| Setbp1 |
A |
G |
18: 78,899,697 (GRCm39) |
|
probably null |
Het |
| Slc25a54 |
T |
C |
3: 108,987,894 (GRCm39) |
S12P |
probably benign |
Het |
| Slc26a5 |
A |
C |
5: 22,028,561 (GRCm39) |
F336V |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,198,114 (GRCm39) |
T254A |
probably damaging |
Het |
| Smcr8 |
G |
T |
11: 60,671,208 (GRCm39) |
|
probably null |
Het |
| Srcap |
A |
T |
7: 127,158,335 (GRCm39) |
|
probably benign |
Het |
| Srrt |
A |
T |
5: 137,296,179 (GRCm39) |
I509N |
probably damaging |
Het |
| Tcf25 |
T |
A |
8: 124,108,243 (GRCm39) |
H99Q |
probably benign |
Het |
| Tmem40 |
A |
G |
6: 115,713,373 (GRCm39) |
V76A |
probably benign |
Het |
| Tnni3k |
A |
T |
3: 154,533,248 (GRCm39) |
S740T |
possibly damaging |
Het |
| Top3a |
A |
G |
11: 60,667,746 (GRCm39) |
|
probably null |
Het |
| Tpd52l2 |
C |
A |
2: 181,144,680 (GRCm39) |
T109K |
probably damaging |
Het |
| Tsnaxip1 |
C |
A |
8: 106,564,128 (GRCm39) |
D109E |
possibly damaging |
Het |
| Uty |
G |
T |
Y: 1,170,921 (GRCm39) |
D313E |
probably damaging |
Het |
| Zfp143 |
A |
T |
7: 109,685,442 (GRCm39) |
K423* |
probably null |
Het |
| Zfp407 |
C |
T |
18: 84,576,739 (GRCm39) |
G1458D |
probably damaging |
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 |
|
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 |
|
R8729:Krt78
|
UTSW |
15 |
101,855,455 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- TCCTCATATGAGCCCAGCTG -3'
(R):5'- AATAAACTTGAGGTTTGGGGCTC -3'
Sequencing Primer
(F):5'- CCAGCTGGGAAGCAGAC -3'
(R):5'- TGTGTCCATAGCGCAGGAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation