Incidental Mutation 'RF042:Krtap28-10'
ID |
604854 |
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 # |
RF042 (G1)
|
Quality Score |
216.586 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
83019245-83020201 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
CCACAG to CCACAGACACAG
at 83019846 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: 99.4%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5430401F13Rik |
AAAGGAAAAGGTGGCCAG |
AAAGGAAAAGGTGGCCAGCAAAAACAGGAAGGAAAAGGTGGCCAG |
6: 131,529,849 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
GCTGCTG |
GCTGCTGTGACTGCTG |
1: 82,891,305 (GRCm39) |
|
probably benign |
Het |
AI837181 |
CG |
CGGTG |
19: 5,475,265 (GRCm39) |
|
probably benign |
Het |
AI837181 |
GGC |
GGCTGC |
19: 5,475,245 (GRCm39) |
|
probably benign |
Het |
Anapc2 |
GCGGCGGCGGCGAC |
GC |
2: 25,162,573 (GRCm39) |
|
probably benign |
Het |
Cgnl1 |
AGCG |
AGCGGCG |
9: 71,631,997 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
TTT |
TTTTGTT |
11: 101,071,131 (GRCm39) |
|
probably benign |
Het |
Cul9 |
TTCTC |
TTC |
17: 46,851,541 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
GGGGCGGAGCACAGTTCCTACCTCGTT |
GGGGCGGAGCACAGTTCCTACCTCGTTTTGTGGGCGGAGCACAGTTCCTACCTCGTT |
9: 20,821,415 (GRCm39) |
|
probably null |
Het |
Frem3 |
GATC |
GATCATC |
8: 81,341,867 (GRCm39) |
|
probably benign |
Het |
Gab3 |
TCT |
TCTACT |
X: 74,043,611 (GRCm39) |
|
probably benign |
Het |
Gab3 |
TTC |
TTCGTC |
X: 74,043,628 (GRCm39) |
|
probably benign |
Het |
Gabre |
GGCTCC |
GGCTCCTGCTCC |
X: 71,313,653 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
GTGTGT |
GTGTGTTTGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
TGTG |
TGTGAGTG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
Gykl1 |
G |
A |
18: 52,827,488 (GRCm39) |
R232Q |
probably benign |
Het |
Igkv12-89 |
G |
GCAACGCCAT |
6: 68,812,270 (GRCm39) |
|
probably benign |
Het |
Iqcf4 |
TCCTTTTCCTTTTCCTTTT |
TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTTCCTTTT |
9: 106,447,804 (GRCm39) |
|
probably benign |
Het |
Kmt2e |
TTT |
TTTTCTT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
Las1l |
CTTCCT |
CTTCCTTTTCCT |
X: 94,984,226 (GRCm39) |
|
probably benign |
Het |
Lca5l |
GCCCTGGCCCTGGCCCC |
GCCC |
16: 95,960,497 (GRCm39) |
|
probably null |
Het |
Lce1m |
CACTGCTGCTGC |
CACTGCTGCTGCAACTGCTGCTGC |
3: 92,925,446 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
CA |
CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAATA |
11: 58,281,069 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
GCAACA |
GCAACAACA |
X: 70,162,418 (GRCm39) |
|
probably benign |
Het |
Mamld1 |
A |
AGCC |
X: 70,162,459 (GRCm39) |
|
probably benign |
Het |
Map1a |
T |
TTGCTCCACCTCCAGCTCCAGCTCCAGCTCC |
2: 121,136,768 (GRCm39) |
|
probably benign |
Het |
Med12l |
GC |
GCATC |
3: 59,183,416 (GRCm39) |
|
probably benign |
Het |
Med12l |
GCAACA |
GCAACAACA |
3: 59,183,377 (GRCm39) |
|
probably benign |
Het |
Med12l |
AGC |
AGCGGC |
3: 59,183,388 (GRCm39) |
|
probably benign |
Het |
Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
Morn4 |
GCAGTGAG |
GCAGTGAGTCAGTCAGTGAG |
19: 42,064,550 (GRCm39) |
|
probably null |
Het |
Nusap1 |
GAGA |
GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA |
2: 119,458,088 (GRCm39) |
|
probably null |
Het |
Opa3 |
GCGGGC |
GCGGGCGGAGCTGCGGGCGGAGCTGCGGGCGGAGCTACGGGC |
7: 18,989,594 (GRCm39) |
|
probably benign |
Het |
Pdia4 |
CTCTTCCTCCT |
C |
6: 47,785,240 (GRCm39) |
|
probably null |
Het |
Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,684,950 (GRCm39) |
|
probably null |
Het |
Sbp |
AAGA |
AAGACGCTGACAACAGAGA |
17: 24,164,358 (GRCm39) |
|
probably benign |
Het |
Sfswap |
CTCGGCCCA |
CTCGGCCCAGTCGGCCCA |
5: 129,646,807 (GRCm39) |
|
probably benign |
Het |
Slc39a4 |
TC |
TCATCATGATCACCATGGTCACCATGATCACTGTGGCC |
15: 76,499,071 (GRCm39) |
|
probably benign |
Het |
Srpk2 |
ATCCT |
AT |
5: 23,730,573 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCACCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
T |
TCACCTCCCGTGGGCTTGCCAGAAG |
6: 72,593,057 (GRCm39) |
|
probably benign |
Het |
Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
A |
AGCTGCTGCTGCTGCT |
15: 72,673,132 (GRCm39) |
|
probably benign |
Het |
Tsen2 |
GGA |
GGATGA |
6: 115,537,028 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
GC |
GCCACAGCAAC |
8: 109,682,720 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
CAGCAGCA |
CAGCAGCAAAAGCAGCA |
8: 109,682,730 (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 |
|
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'- GAGCATTTCCAGTGGGTAGATG -3'
(R):5'- TCCTCTCTACTGACAACATGGG -3'
Sequencing Primer
(F):5'- CATTTCCAGTGGGTAGATGAAAAG -3'
(R):5'- CTGTGGAGGCTGCGGAG -3'
|
Posted On |
2019-12-04 |