Incidental Mutation 'RF017:Krtap28-10'
| ID |
603600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krtap28-10
|
| Ensembl Gene |
ENSMUSG00000100190 |
| Gene Name |
keratin associated protein 28-10 |
| Synonyms |
4733401N17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
RF017 (G1)
|
| Quality Score |
214.458 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
83019245-83020201 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
CACAGC to CACAGCAACAGC
at 83019859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045560]
[ENSMUST00000164473]
[ENSMUST00000188323]
[ENSMUST00000222567]
|
| AlphaFold |
A0A1Y7VP58 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045560
|
| SMART Domains |
Protein: ENSMUSP00000041683
Gene: ENSMUSG00000038496
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_carrier
|
11 |
435 |
1.4e-178 |
PFAM |
|
Pfam:MFS_1
|
16 |
416 |
1.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164473
|
| SMART Domains |
Protein: ENSMUSP00000126646
Gene: ENSMUSG00000038496
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Folate_carrier
|
11 |
435 |
1.3e-178 |
PFAM |
|
Pfam:MFS_1
|
16 |
416 |
1.9e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188323
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222567
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
100% (29/29) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
ACCACC |
ACCACCACC |
4: 132,790,062 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCCGCGGC |
18: 36,693,962 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
G |
A |
10: 89,869,087 (GRCm39) |
G49D |
probably damaging |
Het |
| AY358078 |
T |
TAGGATAATGA |
14: 52,043,050 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
CCA |
CCAGCA |
10: 4,511,024 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
AAGAGGAGGAAGAGGAGGGGGAGAAGGAG |
AAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG |
5: 123,391,953 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
C |
A |
2: 35,065,201 (GRCm39) |
D2168E |
probably damaging |
Het |
| Dab1 |
C |
A |
4: 104,570,849 (GRCm39) |
R195S |
probably benign |
Het |
| Dnmt1 |
AGCACAGTTCCTACCTCGTT |
AGCACAGTTCCTACCTCGTTTTGGGGGCGGCGCACAGTTCCTACCTCGTT |
9: 20,821,422 (GRCm39) |
|
probably null |
Het |
| Elp6 |
A |
T |
9: 110,148,777 (GRCm39) |
H222L |
probably damaging |
Het |
| Entpd2 |
CTT |
CTTT |
2: 25,290,907 (GRCm39) |
|
probably null |
Het |
| Fgf22 |
A |
G |
10: 79,592,680 (GRCm39) |
H125R |
probably benign |
Het |
| Galnt18 |
G |
A |
7: 111,198,221 (GRCm39) |
R180C |
probably damaging |
Het |
| Garin5a |
GTCTGAGGGAGGA |
GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGATCTGAGGGAGGA |
7: 44,149,949 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GGGAGGA |
GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA |
7: 44,149,955 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG |
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG |
19: 11,489,106 (GRCm39) |
|
probably null |
Het |
| Gpsm1 |
C |
A |
2: 26,214,884 (GRCm39) |
H288Q |
probably damaging |
Het |
| Ipo7 |
A |
G |
7: 109,648,001 (GRCm39) |
I628V |
probably benign |
Het |
| Irag2 |
GCACATTG |
GCACATTGATCACATTG |
6: 145,119,510 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
C |
T |
1: 180,160,887 (GRCm39) |
R338W |
probably damaging |
Het |
| Krtap4-2 |
CAGCAGGGGCGGCA |
C |
11: 99,525,543 (GRCm39) |
|
probably null |
Het |
| Krtap4-9 |
TGCTGTGTGTCCAGCTGCTGCAG |
TGCTGTGTGTCCAGCTGCTGCAGGCCCAGCGGCTGTGTGTCCAGCTGCTGCAG |
11: 99,676,225 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
G |
T |
13: 9,173,946 (GRCm39) |
G30V |
probably benign |
Het |
| Map1a |
CTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGGTCCAGCTCCA |
2: 121,136,789 (GRCm39) |
|
probably benign |
Het |
| Mccc2 |
A |
C |
13: 100,136,796 (GRCm39) |
V53G |
probably damaging |
Het |
| Meiosin |
T |
C |
7: 18,836,354 (GRCm39) |
N291S |
unknown |
Het |
| Mug1 |
T |
A |
6: 121,861,533 (GRCm39) |
Y1332N |
probably damaging |
Het |
| Nalf2 |
GCCGCC |
GCCGCCACCGCC |
X: 98,864,971 (GRCm39) |
|
probably benign |
Het |
| Ndnf |
A |
G |
6: 65,681,313 (GRCm39) |
T531A |
probably damaging |
Het |
| Ntsr2 |
T |
G |
12: 16,709,766 (GRCm39) |
V349G |
probably damaging |
Het |
| Or2g25 |
A |
T |
17: 37,970,672 (GRCm39) |
I184N |
probably damaging |
Het |
| P2ry14 |
A |
T |
3: 59,022,467 (GRCm39) |
I331N |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,138,577 (GRCm39) |
S69P |
possibly damaging |
Het |
| Ptp4a2 |
A |
G |
4: 129,733,237 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,741,446 (GRCm39) |
D2353G |
probably benign |
Het |
| Rasa2 |
GCC |
GCCCCC |
9: 96,513,521 (GRCm39) |
|
probably benign |
Het |
| Raver2 |
A |
T |
4: 100,960,195 (GRCm39) |
D225V |
probably damaging |
Het |
| Rph3a |
A |
T |
5: 121,100,562 (GRCm39) |
|
probably null |
Het |
| Sin3a |
T |
A |
9: 57,034,610 (GRCm39) |
V1261E |
possibly damaging |
Het |
| Slc12a9 |
T |
A |
5: 137,323,812 (GRCm39) |
I368F |
probably damaging |
Het |
| Spaca1 |
CTCGC |
CTCGCTGTCGC |
4: 34,049,853 (GRCm39) |
|
probably benign |
Het |
| Spata31h1 |
AA |
AACTGTCA |
10: 82,126,826 (GRCm39) |
|
probably benign |
Het |
| Strn |
C |
CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTG |
17: 78,984,717 (GRCm39) |
|
probably null |
Het |
| Ush2a |
A |
C |
1: 187,995,666 (GRCm39) |
T146P |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,509,849 (GRCm39) |
L440P |
probably damaging |
Het |
| Xpnpep1 |
T |
A |
19: 53,020,491 (GRCm39) |
I24L |
probably benign |
Het |
|
| Other mutations in Krtap28-10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
FR4737:Krtap28-10
|
UTSW |
1 |
83,019,844 (GRCm39) |
unclassified |
probably benign |
|
|
R8865:Krtap28-10
|
UTSW |
1 |
83,019,808 (GRCm39) |
missense |
unknown |
|
|
R8984:Krtap28-10
|
UTSW |
1 |
83,019,894 (GRCm39) |
missense |
unknown |
|
|
RF001:Krtap28-10
|
UTSW |
1 |
83,020,003 (GRCm39) |
unclassified |
probably benign |
|
|
RF001:Krtap28-10
|
UTSW |
1 |
83,019,976 (GRCm39) |
unclassified |
probably benign |
|
|
RF001:Krtap28-10
|
UTSW |
1 |
83,020,001 (GRCm39) |
unclassified |
probably benign |
|
|
RF008:Krtap28-10
|
UTSW |
1 |
83,019,974 (GRCm39) |
unclassified |
probably benign |
|
|
RF008:Krtap28-10
|
UTSW |
1 |
83,020,000 (GRCm39) |
unclassified |
probably benign |
|
|
RF008:Krtap28-10
|
UTSW |
1 |
83,019,849 (GRCm39) |
unclassified |
probably benign |
|
|
RF008:Krtap28-10
|
UTSW |
1 |
83,019,856 (GRCm39) |
unclassified |
probably benign |
|
|
RF012:Krtap28-10
|
UTSW |
1 |
83,019,857 (GRCm39) |
unclassified |
probably benign |
|
|
RF013:Krtap28-10
|
UTSW |
1 |
83,019,995 (GRCm39) |
unclassified |
probably benign |
|
|
RF013:Krtap28-10
|
UTSW |
1 |
83,019,856 (GRCm39) |
unclassified |
probably benign |
|
|
RF014:Krtap28-10
|
UTSW |
1 |
83,019,972 (GRCm39) |
unclassified |
probably benign |
|
|
RF016:Krtap28-10
|
UTSW |
1 |
83,019,844 (GRCm39) |
unclassified |
probably benign |
|
|
RF017:Krtap28-10
|
UTSW |
1 |
83,019,987 (GRCm39) |
unclassified |
probably benign |
|
|
RF018:Krtap28-10
|
UTSW |
1 |
83,019,974 (GRCm39) |
unclassified |
probably benign |
|
|
RF019:Krtap28-10
|
UTSW |
1 |
83,019,990 (GRCm39) |
unclassified |
probably benign |
|
|
RF023:Krtap28-10
|
UTSW |
1 |
83,020,007 (GRCm39) |
unclassified |
probably benign |
|
|
RF023:Krtap28-10
|
UTSW |
1 |
83,019,867 (GRCm39) |
nonsense |
probably null |
|
|
RF024:Krtap28-10
|
UTSW |
1 |
83,019,973 (GRCm39) |
unclassified |
probably benign |
|
|
RF024:Krtap28-10
|
UTSW |
1 |
83,019,844 (GRCm39) |
unclassified |
probably benign |
|
|
RF025:Krtap28-10
|
UTSW |
1 |
83,019,979 (GRCm39) |
unclassified |
probably benign |
|
|
RF026:Krtap28-10
|
UTSW |
1 |
83,019,847 (GRCm39) |
unclassified |
probably benign |
|
|
RF027:Krtap28-10
|
UTSW |
1 |
83,020,006 (GRCm39) |
unclassified |
probably benign |
|
|
RF028:Krtap28-10
|
UTSW |
1 |
83,019,979 (GRCm39) |
unclassified |
probably benign |
|
|
RF029:Krtap28-10
|
UTSW |
1 |
83,019,991 (GRCm39) |
unclassified |
probably benign |
|
|
RF032:Krtap28-10
|
UTSW |
1 |
83,019,979 (GRCm39) |
unclassified |
probably benign |
|
|
RF034:Krtap28-10
|
UTSW |
1 |
83,020,003 (GRCm39) |
unclassified |
probably benign |
|
|
RF035:Krtap28-10
|
UTSW |
1 |
83,020,002 (GRCm39) |
unclassified |
probably benign |
|
|
RF035:Krtap28-10
|
UTSW |
1 |
83,019,867 (GRCm39) |
unclassified |
probably benign |
|
|
RF037:Krtap28-10
|
UTSW |
1 |
83,019,866 (GRCm39) |
unclassified |
probably benign |
|
|
RF037:Krtap28-10
|
UTSW |
1 |
83,020,007 (GRCm39) |
unclassified |
probably benign |
|
|
RF038:Krtap28-10
|
UTSW |
1 |
83,019,978 (GRCm39) |
unclassified |
probably benign |
|
|
RF038:Krtap28-10
|
UTSW |
1 |
83,019,849 (GRCm39) |
unclassified |
probably benign |
|
|
RF042:Krtap28-10
|
UTSW |
1 |
83,019,846 (GRCm39) |
unclassified |
probably benign |
|
|
RF044:Krtap28-10
|
UTSW |
1 |
83,019,852 (GRCm39) |
unclassified |
probably benign |
|
|
RF045:Krtap28-10
|
UTSW |
1 |
83,019,982 (GRCm39) |
unclassified |
probably benign |
|
|
RF045:Krtap28-10
|
UTSW |
1 |
83,019,864 (GRCm39) |
unclassified |
probably benign |
|
|
RF049:Krtap28-10
|
UTSW |
1 |
83,020,006 (GRCm39) |
unclassified |
probably benign |
|
|
RF049:Krtap28-10
|
UTSW |
1 |
83,019,859 (GRCm39) |
unclassified |
probably benign |
|
|
RF053:Krtap28-10
|
UTSW |
1 |
83,019,999 (GRCm39) |
unclassified |
probably benign |
|
|
RF055:Krtap28-10
|
UTSW |
1 |
83,019,991 (GRCm39) |
unclassified |
probably benign |
|
|
RF055:Krtap28-10
|
UTSW |
1 |
83,019,983 (GRCm39) |
unclassified |
probably benign |
|
|
RF055:Krtap28-10
|
UTSW |
1 |
83,019,851 (GRCm39) |
unclassified |
probably benign |
|
|
RF058:Krtap28-10
|
UTSW |
1 |
83,019,983 (GRCm39) |
unclassified |
probably benign |
|
|
RF059:Krtap28-10
|
UTSW |
1 |
83,020,011 (GRCm39) |
unclassified |
probably benign |
|
|
RF059:Krtap28-10
|
UTSW |
1 |
83,019,996 (GRCm39) |
unclassified |
probably benign |
|
|
RF061:Krtap28-10
|
UTSW |
1 |
83,020,002 (GRCm39) |
unclassified |
probably benign |
|
|
RF064:Krtap28-10
|
UTSW |
1 |
83,019,852 (GRCm39) |
unclassified |
probably benign |
|
|
Z1177:Krtap28-10
|
UTSW |
1 |
83,019,880 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGGAAAGTCAACAGTGGCC -3'
(R):5'- ATCCTCTCTACTGACAACATGGG -3'
Sequencing Primer
(F):5'- GTCAACAGTGGCCATAAAGTCTTAC -3'
(R):5'- CTGTGGAGGCTGCGGAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation