Incidental Mutation 'RF038:Krtap28-10'
ID |
604648 |
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 # |
RF038 (G1)
|
Quality Score |
103.525 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
83019245-83020201 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
CA to CAACCAAA
at 83019849 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 |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
TGT |
TGTAGCTGCGGT |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
Abcf1 |
CTCTTC |
CTC |
17: 36,274,093 (GRCm39) |
|
probably benign |
Het |
Acap3 |
GCATCCTGGGCTGCT |
GCATCCTGGGCTGCTTCATCCTGGGCTGCT |
4: 155,989,549 (GRCm39) |
|
probably benign |
Het |
AI837181 |
GGC |
GGCAGC |
19: 5,475,254 (GRCm39) |
|
probably benign |
Het |
AI837181 |
GCG |
GCGACG |
19: 5,475,264 (GRCm39) |
|
probably benign |
Het |
Cdx1 |
CTGCTG |
CTGCTGGTGCTG |
18: 61,152,942 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
CCAGGGA |
CCAGGGATGTGACACACACACTGCGCAGGGA |
9: 86,922,495 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
GAGGAG |
GAGGAGAAGGAG |
9: 99,465,750 (GRCm39) |
|
probably benign |
Het |
Dennd10 |
ACTC |
ACTCCTC |
19: 60,803,056 (GRCm39) |
|
probably benign |
Het |
Dmkn |
GTGGAAGTGGTGG |
GTGGAAGTGGTGGAAGTGGTGGAAGTGTTGGAAGTGGTGG |
7: 30,466,619 (GRCm39) |
|
probably benign |
Het |
Dnaaf9 |
CTC |
CTCATC |
2: 130,612,664 (GRCm39) |
|
probably null |
Het |
Enah |
TGGCGGCGG |
TGG |
1: 181,749,500 (GRCm39) |
|
probably benign |
Het |
Flywch1 |
ACCCACTCCTGGTGT |
ACCCACTCCTGGTGTGGGGAGGCTACGTACTCCCCCACTCCTGGTGT |
17: 23,981,138 (GRCm39) |
|
probably null |
Het |
Foxd3 |
GGACCCTACGGCCG |
GG |
4: 99,545,633 (GRCm39) |
|
probably benign |
Het |
Fscb |
CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAAATTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT |
12: 64,519,343 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
Garin5a |
TGGGTCTGAGGGAGGA |
TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA |
7: 44,149,946 (GRCm39) |
|
probably null |
Het |
Gas1 |
CGAGGA |
CGAGGAGGA |
13: 60,324,342 (GRCm39) |
|
probably benign |
Het |
Gas1 |
AG |
AGATG |
13: 60,324,344 (GRCm39) |
|
probably benign |
Het |
Gm15155 |
CAAAAA |
CAAAAACAAAAAA |
X: 155,128,636 (GRCm39) |
|
probably null |
Het |
Habp4 |
TGAGG |
TG |
13: 64,309,976 (GRCm39) |
|
probably benign |
Het |
Hsdl2 |
CACAGCTGCAG |
CACAGCTGCAGCAGCAGCGACAGCTGCAG |
4: 59,610,648 (GRCm39) |
|
probably benign |
Het |
Il2 |
CTT |
CTTCAAGTGGGGATT |
3: 37,179,970 (GRCm39) |
|
probably null |
Het |
Irag2 |
TG |
TGAGCACATCG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
Ivl |
CTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,607 (GRCm39) |
|
probably benign |
Het |
Lmx1b |
CATCTTGATGCCGTCCAA |
C |
2: 33,530,521 (GRCm39) |
|
probably null |
Het |
Mamld1 |
CAG |
CAGGAG |
X: 70,162,452 (GRCm39) |
|
probably benign |
Het |
Nefh |
CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,027 (GRCm39) |
|
probably benign |
Het |
Nefh |
GGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,029 (GRCm39) |
|
probably benign |
Het |
Nefh |
CTCACCTGGGGACTTGGC |
CTCACCTGGGGACTTGGCATCACCTGGGGACTTGGC |
11: 4,891,040 (GRCm39) |
|
probably benign |
Het |
Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,012 (GRCm39) |
|
probably benign |
Het |
Nefh |
TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,018 (GRCm39) |
|
probably benign |
Het |
Nefh |
GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,019 (GRCm39) |
|
probably benign |
Het |
Pabpc6 |
AGCTGC |
AGC |
17: 9,887,044 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
TTTTTT |
TTTTTTTTGTTTTT |
15: 44,421,899 (GRCm39) |
|
probably benign |
Het |
Rassf6 |
TGTAGAGCAATGGGGATTC |
TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC |
5: 90,756,783 (GRCm39) |
|
probably benign |
Het |
Rassf6 |
GCAATGGGGATTC |
GCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGATCAATGGGGATTC |
5: 90,756,789 (GRCm39) |
|
probably benign |
Het |
Rbm12 |
CAGGTATTGCGGGACC |
CAGGTATTGCGGGACCTGGTATTGCGGGACCAGGTATTGCGGGACC |
2: 155,938,026 (GRCm39) |
|
probably benign |
Het |
Sbp |
AAGATG |
AAGATGCTGACAACACAGATG |
17: 24,164,358 (GRCm39) |
|
probably benign |
Het |
Strn |
CCCAGTC |
CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACGCCAGTC |
17: 78,984,711 (GRCm39) |
|
probably null |
Het |
Supt20 |
TTCAGCA |
TTCAGCATCAGCA |
3: 54,635,068 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
TCCCAGAGATCCCC |
TCCCAGAGATCCCCCTGGCTGCTGAGATGGGCACTTCCCCAGAGATCCCC |
18: 60,966,638 (GRCm39) |
|
probably benign |
Het |
Tfeb |
AGC |
AGCGGC |
17: 48,097,030 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCACCA |
17: 48,097,037 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
GCTGCTGCT |
GCTGCTGCTGCTGCTCCTGCTGCT |
15: 72,673,172 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
CAGCA |
CAGCACCAGAAGCA |
8: 109,682,733 (GRCm39) |
|
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 |
|
RF017:Krtap28-10
|
UTSW |
1 |
83,019,859 (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 |
83,019,867 (GRCm39) |
unclassified |
probably benign |
|
RF035:Krtap28-10
|
UTSW |
1 |
83,020,002 (GRCm39) |
unclassified |
probably benign |
|
RF037:Krtap28-10
|
UTSW |
1 |
83,020,007 (GRCm39) |
unclassified |
probably benign |
|
RF037:Krtap28-10
|
UTSW |
1 |
83,019,866 (GRCm39) |
unclassified |
probably benign |
|
RF038:Krtap28-10
|
UTSW |
1 |
83,019,978 (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'- AGCATTTCCAGTGGGTAGATG -3'
(R):5'- TCCTCTCTACTGACAACATGGG -3'
Sequencing Primer
(F):5'- CATTTCCAGTGGGTAGATGAAAAG -3'
(R):5'- CTGTGGAGGCTGCGGAG -3'
|
Posted On |
2019-12-04 |