Incidental Mutation 'RF045:Krtap28-10'
| ID |
604987 |
| 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: 0.149)
|
| Stock # |
RF045 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
83019245-83020201 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
CACAGCCACCACAGCCACAGCCACCACAGC to CACAGCCACCACAGCAACAGCCACCACAGCCACAGCCACCACAGC
at 83019982 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: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AI837181 |
GCG |
GCGCCG |
19: 5,475,246 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
CGGGGG |
CGGGGGGGG |
17: 5,045,858 (GRCm39) |
|
probably benign |
Het |
| Cdsn |
CAGC |
CAGCAGCTCTCAGTCAGGAAGTAGC |
17: 35,865,865 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
ATGT |
ATGTGAGACACACTGCCCAGGGATGTGT |
9: 86,922,455 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
GA |
GATGTGACAGACACACTGCCCAGGAA |
9: 86,922,500 (GRCm39) |
|
probably benign |
Het |
| Cyp4a12b |
C |
T |
4: 115,289,690 (GRCm39) |
H186Y |
probably benign |
Het |
| Dbr1 |
AAGAGGA |
AAGAGGAAGAGGA |
9: 99,465,724 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
ACAGTTCCTACCTCGTT |
ACAGTTCCTACCTCGTTTTGGGCGCGGAGCCCAGTTCCTACCTCGTT |
9: 20,821,425 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
TACCTCGTT |
TACCTCGTTTTGGGGGCGGAGCACAGTTCCCACCTCGTT |
9: 20,821,433 (GRCm39) |
|
probably benign |
Het |
| Ecrg4 |
TTCTGTA |
T |
1: 43,776,352 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CCGGCT |
CCGGCTGCGGCT |
X: 71,313,651 (GRCm39) |
|
probably benign |
Het |
| Gabre |
CTCAGGCT |
C |
X: 71,313,787 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GGAGGA |
GGAGGAAGGCTGGATCCTGGATACCTGGGTCTGAGTGAGGA |
7: 44,149,956 (GRCm39) |
|
probably null |
Het |
| Iqcf4 |
TTCCTTTTCCTTTT |
TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTATCCTTTTCCTTTT |
9: 106,447,809 (GRCm39) |
|
probably benign |
Het |
| Kcnq3 |
CCGCCAGCCGC |
CC |
15: 66,158,033 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
TGCTGCC |
TGCTGCCCCCGCCGCTGCC |
3: 92,925,599 (GRCm39) |
|
probably benign |
Het |
| Map1a |
CAGCTCCAGCTCCAGCTCC |
CAGCTCCAGCTCCAGCTCCCGCTCCAGCTCTAGCTCCAGCTCCAGCTCC |
2: 121,136,774 (GRCm39) |
|
probably benign |
Het |
| Ncapd2 |
ACT |
ACTACACGCCGTCAGAGCACCGTGTTCTGTCACATCCT |
6: 125,156,199 (GRCm39) |
|
probably null |
Het |
| Neu1 |
TCTTCTA |
T |
17: 35,151,534 (GRCm39) |
|
probably benign |
Het |
| Ntn4 |
G |
T |
10: 93,546,487 (GRCm39) |
R380L |
possibly damaging |
Het |
| Nusap1 |
A |
ATACACGTTAGCAGTGAGGAGCAAGCTGAGG |
2: 119,458,091 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
C |
T |
10: 94,700,869 (GRCm39) |
C605Y |
probably damaging |
Het |
| Ptms |
CTCCTC |
CTCCTCCTC |
6: 124,891,413 (GRCm39) |
|
probably benign |
Het |
| Snx1 |
CTGTT |
CTGTTGTT |
9: 66,012,204 (GRCm39) |
|
probably benign |
Het |
| Strn |
CCCAGTC |
CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACACCAGTC |
17: 78,984,711 (GRCm39) |
|
probably null |
Het |
| Supt20 |
GCAGCA |
GCAGCATCAGCA |
3: 54,635,087 (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 |
83,019,864 (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'- GCTAGCAGCAGCACTTCTTG -3'
(R):5'- CTTGAAGCAAAGGCCATCAC -3'
Sequencing Primer
(F):5'- AGCCACACTTCTGCTGGC -3'
(R):5'- TTGAAGCAAAGGCCATCACATCTC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation