Incidental Mutation 'RF055:Krtap28-10'
| ID |
605222 |
| 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 # |
RF055 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
83019245-83020201 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
ACAGCCACCACAGCCACAGCCACCACAGC to ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC
at 83019983 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: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B430218F22Rik |
GGCGGCGGCGGCG |
GGCGGCGGCGGCGGCGGCG |
13: 118,523,385 (GRCm39) |
|
probably benign |
Het |
| Bhlhb9 |
C |
T |
X: 134,791,239 (GRCm39) |
L484F |
possibly damaging |
Het |
| Bltp1 |
TTAT |
TTATTATTATTATTAGTAT |
3: 37,104,906 (GRCm39) |
|
probably benign |
Het |
| Cul1 |
A |
T |
6: 47,494,067 (GRCm39) |
D460V |
probably damaging |
Het |
| Cyb5r4 |
CTGCCCAGGGATGTGACAGACACA |
CTGCCCAGGGATGTGACAGACACAATGCCCAGGGATGTGACAGACACA |
9: 86,922,467 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
CT |
CTTCCCAGGGATGTGACAGACACATT |
9: 86,922,491 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GTGGTGGAAGTGGTGG |
GTGGTGGAAGTGGTGGAAGTTGTGGAATTGGTGGAAGTGGTGG |
7: 30,466,616 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CACAGTTCCTACCTCGTT |
CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT |
9: 20,821,424 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
CTACCTCGTT |
CTACCTCGTTTTGGGGGCGGAGCACAGTTCGTACCTCGTT |
9: 20,821,432 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
CCTACCTCGTT |
CCTACCTCGTTTTGGAGGCGGAGCACAGTTGCTACCTCGTT |
9: 20,821,431 (GRCm39) |
|
probably null |
Het |
| Fam171b |
AGCAGC |
AGCAGCCGCAGC |
2: 83,643,220 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TCT |
TCTGCT |
X: 74,043,593 (GRCm39) |
|
probably benign |
Het |
| Gab3 |
TTC |
TTCGTC |
X: 74,043,616 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CAGGCTCA |
C |
X: 71,313,783 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GAGGA |
GAGGAAGGCTGGATCCTGGATACCTGGGGCTGAGGTAGGA |
7: 44,149,957 (GRCm39) |
|
probably null |
Het |
| Gm16519 |
AAGCAG |
AAGCAGCAG |
17: 71,236,326 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
GTGT |
GTGTTTGT |
19: 11,489,112 (GRCm39) |
|
probably null |
Het |
| Gucy2d |
CTGGG |
CTGGGGGTCGTGGG |
7: 98,108,248 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
CACATTG |
CACATTGAGTACATTG |
6: 145,119,511 (GRCm39) |
|
probably benign |
Het |
| Ivl |
CTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG |
3: 92,479,607 (GRCm39) |
|
probably benign |
Het |
| Kmt2c |
TG |
TGCTCTCG,TGCGG |
5: 25,520,770 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CAG |
CAGGAG |
X: 70,162,443 (GRCm39) |
|
probably benign |
Het |
| Med12l |
GCA |
GCATCA |
3: 59,183,404 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
CTCAGCTGGGGACTTGGCCTCAGCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,004 (GRCm39) |
|
probably benign |
Het |
| Nelfe |
AAGACAGAGACCGGGATCGAGACAGAGAC |
AAGACAGAGACCGGGATCGAGACAGAGACAGAGACCGGGATCGAGACAGAGAC |
17: 35,073,038 (GRCm39) |
|
probably benign |
Het |
| Osmr |
CTTCT |
CTTCTTCT |
15: 6,867,181 (GRCm39) |
|
probably benign |
Het |
| Pou3f1 |
GGCGGCAGCGGC |
GGCGGCAGCGGCAGCGGC |
4: 124,551,589 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GGTGGTGGT |
GGTGGTGGTTGTGGTGGT |
7: 127,384,471 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
G |
A |
8: 64,396,203 (GRCm39) |
R18C |
probably damaging |
Het |
| Spata31h1 |
AATG |
AATGTCAATG |
10: 82,126,827 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
CGA |
CGAACCTCCCCAGTCCCGCAAGGCCAGTGA |
5: 77,164,250 (GRCm39) |
|
probably benign |
Het |
| Stard8 |
GGA |
GGAAGA |
X: 98,110,126 (GRCm39) |
|
probably benign |
Het |
| Zscan18 |
GCTGGCTAGGCTCTTCCTGTTGGTTGGGTTGATCCTTCTGGCTAGGCTCTTCCTGTTGTTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGGTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGG |
GCTGGCTAGGCTCTTCCTGTTGTTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGGTTGCATTGATCCTTCTGGCTAGGCTCTTCCTGTTGG |
7: 12,508,352 (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 |
|
|
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 |
83,019,851 (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'- TCGTAGCTTAGAACCAGAGCC -3'
(R):5'- TCCTCTCTACTGACAACATGGG -3'
Sequencing Primer
(F):5'- GCTAGCAGCAGCACTTCTTG -3'
(R):5'- AACATGGGTTGTTGTGGCTG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation