Incidental Mutation 'RF044:Krtap28-10'
ID |
604945 |
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 # |
RF044 (G1)
|
Quality Score |
217.002 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
83019245-83020201 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
CCACAG to CCACAGACACAG
at 83019852 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: 98.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
TG |
TGTGGCTGCCG |
1: 82,891,310 (GRCm39) |
|
probably benign |
Het |
Blm |
CTCC |
CTCCTCCTCCTCATCC |
7: 80,162,678 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
GAG |
GAGTAG |
X: 7,486,296 (GRCm39) |
|
probably null |
Het |
Ccdc85c |
GCC |
GCCACC |
12: 108,240,871 (GRCm39) |
|
probably benign |
Het |
Chga |
AGC |
AGCGGC |
12: 102,527,655 (GRCm39) |
|
probably benign |
Het |
Crtam |
TTCTTGATCTGAA |
T |
9: 40,895,650 (GRCm39) |
|
probably null |
Het |
Dspp |
TGACAGCAGCGACAGCAG |
TGACAGCAGCGACAGCAGAGACAGCAGCGACAGCAG |
5: 104,326,290 (GRCm39) |
|
probably benign |
Het |
Efhd2 |
CCGCCG |
CCGCCGACGCCG |
4: 141,602,079 (GRCm39) |
|
probably benign |
Het |
F830016B08Rik |
AAAAAA |
AAAAAAAAA |
18: 60,433,010 (GRCm39) |
|
probably benign |
Het |
Gab3 |
TCT |
TCTCCT |
X: 74,043,611 (GRCm39) |
|
probably benign |
Het |
Gabre |
CTC |
CTCCGGATC |
X: 71,313,667 (GRCm39) |
|
probably benign |
Het |
Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
Haus4 |
AGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAG |
AGGGCAGGCCGCTGGCCACACACCTGGGAGGGGGGCAGGCCGCTGGCCACACACCTGGGAG |
14: 54,781,577 (GRCm39) |
|
probably null |
Het |
Igf1r |
GATGGAGC |
GATGGAGCTGGATATGGAGC |
7: 67,875,927 (GRCm39) |
|
probably benign |
Het |
Irag2 |
TG |
TGAGCACATCG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
Maml2 |
ACAGCAGCAGCAACAGCAGCAGCAGCAGCA |
ACAGCAACAGCAGCAGCAGCAGCA |
9: 13,532,752 (GRCm39) |
|
probably benign |
Het |
Map1a |
CAGCTCCAGCTCCAGCTCCAGCTCCA |
CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAAGCTCCAGCTCCAGCTCCAGCTCCA |
2: 121,136,774 (GRCm39) |
|
probably benign |
Het |
Mapk6 |
CCAC |
CCACCTCAC |
9: 75,295,542 (GRCm39) |
|
probably null |
Het |
Morn4 |
GTGAG |
GTGAGTCAAGCATTGAG |
19: 42,064,553 (GRCm39) |
|
probably null |
Het |
Nefh |
CCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGG |
CCTCACCTGGGGACTTGGACTCACCTGGGGACTTGGCCTCACCTGGGGACTTGG |
11: 4,891,021 (GRCm39) |
|
probably benign |
Het |
Nefh |
CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA |
CTTGGCCTCACCTGGGGAATTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGA |
11: 4,891,016 (GRCm39) |
|
probably benign |
Het |
Nefh |
TCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
TCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,023 (GRCm39) |
|
probably benign |
Het |
Nolc1 |
CAGCAGC |
CAGCAGCAGAAGCAGC |
19: 46,069,810 (GRCm39) |
|
probably benign |
Het |
Or10n7-ps1 |
AAAATA |
AAAATAAATA |
9: 39,598,043 (GRCm39) |
|
probably null |
Het |
Phc1 |
TG |
TGCTGCGG |
6: 122,300,559 (GRCm39) |
|
probably benign |
Het |
Pla2g4e |
AGGG |
A |
2: 120,075,205 (GRCm39) |
|
probably benign |
Het |
Prr36 |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
8: 4,266,273 (GRCm39) |
|
probably benign |
Het |
Ptdss1 |
G |
T |
13: 67,093,412 (GRCm39) |
S84I |
possibly damaging |
Het |
Ren1 |
ACCGC |
AC |
1: 133,278,519 (GRCm39) |
|
probably benign |
Het |
Rinl |
G |
T |
7: 28,496,988 (GRCm39) |
G496V |
probably damaging |
Het |
Ryr3 |
CTGA |
C |
2: 112,740,869 (GRCm39) |
|
probably benign |
Het |
Sbp |
A |
AAAAAGATGATGACAC |
17: 24,164,340 (GRCm39) |
|
probably benign |
Het |
Slc39a4 |
GTC |
GTCATCATGATCACCATGGTCACCATGATCACTGTGTTC |
15: 76,499,070 (GRCm39) |
|
probably benign |
Het |
Spaca1 |
TCTCGC |
TCTCGCGCTCGC |
4: 34,049,846 (GRCm39) |
|
probably benign |
Het |
Spaca1 |
TCGC |
TCGCTCGCGC |
4: 34,049,854 (GRCm39) |
|
probably benign |
Het |
Spmap2l |
ATCCTCCCCAGTCCCGCAAGGCCAG |
ATCCTCCCCAGTCCCGCAAGGCCAGCGCTCCTCCCCAGTCCCGCAAGGCCAG |
5: 77,164,252 (GRCm39) |
|
probably benign |
Het |
Strn |
C |
CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTA |
17: 78,984,717 (GRCm39) |
|
probably null |
Het |
Tmem59 |
T |
TGTTTGTTG |
4: 107,047,729 (GRCm39) |
|
probably benign |
Het |
Tob1 |
GCA |
GCAACA |
11: 94,105,287 (GRCm39) |
|
probably benign |
Het |
Zfp683 |
TGTGG |
TGTGGTGG |
4: 133,786,185 (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 |
83,020,002 (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 |
|
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 |