Incidental Mutation 'RF028:Kri1'
ID |
604234 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kri1
|
Ensembl Gene |
ENSMUSG00000035047 |
Gene Name |
KRI1 homolog |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
RF028 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
21184753-21199265 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
CTCCTCCT to C
at 21192367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039688
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038671]
[ENSMUST00000065005]
[ENSMUST00000184326]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000038671
|
SMART Domains |
Protein: ENSMUSP00000039688 Gene: ENSMUSG00000035047
Domain | Start | End | E-Value | Type |
low complexity region
|
20 |
34 |
N/A |
INTRINSIC |
low complexity region
|
50 |
60 |
N/A |
INTRINSIC |
low complexity region
|
98 |
112 |
N/A |
INTRINSIC |
low complexity region
|
181 |
195 |
N/A |
INTRINSIC |
Pfam:Kri1
|
346 |
439 |
3.2e-27 |
PFAM |
Pfam:Kri1_C
|
507 |
595 |
8.4e-37 |
PFAM |
low complexity region
|
653 |
666 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000065005
|
SMART Domains |
Protein: ENSMUSP00000068450 Gene: ENSMUSG00000002820
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
Pfam:Peptidase_C54
|
109 |
411 |
5.7e-107 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000184326
|
SMART Domains |
Protein: ENSMUSP00000139184 Gene: ENSMUSG00000035047
Domain | Start | End | E-Value | Type |
low complexity region
|
57 |
71 |
N/A |
INTRINSIC |
Pfam:Kri1
|
207 |
317 |
4.4e-27 |
PFAM |
Pfam:Kri1_C
|
381 |
472 |
3.6e-36 |
PFAM |
low complexity region
|
529 |
542 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene overlaps with the gene for cysteine endopeptidase AUT-like 4 in a head-to-tail orientation. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A030005L19Rik |
GCTGTG |
GCTGTGCCTCCTGTG |
1: 82,891,299 (GRCm39) |
|
probably benign |
Het |
A030005L19Rik |
TGTGGCTGC |
TGTGGCTGCCGTGGCTGC |
1: 82,891,301 (GRCm39) |
|
probably benign |
Het |
Acap3 |
TGCATCCTGGGCTGC |
TGCATCCTGGGCTGCAGCATCCTGGGCTGC |
4: 155,989,548 (GRCm39) |
|
probably benign |
Het |
Arid1b |
C |
CGGG |
17: 5,045,873 (GRCm39) |
|
probably benign |
Het |
Blm |
CCTCCTCCTCCTCCTCCTCCTCCT |
CCTCCTCCTCCTACTCCTCCTCCTCCTCCTCCTCCT |
7: 80,162,653 (GRCm39) |
|
probably null |
Het |
Boc |
GAC |
G |
16: 44,316,796 (GRCm39) |
|
probably null |
Het |
Cacna1f |
GAG |
GAGAAG |
X: 7,486,299 (GRCm39) |
|
probably benign |
Het |
Cacna1f |
GAG |
GAGAAG |
X: 7,486,302 (GRCm39) |
|
probably benign |
Het |
Catsper2 |
ATCGCTTTCCTCGTTTTCG |
ATCG |
2: 121,228,207 (GRCm39) |
|
probably benign |
Het |
Dbr1 |
GAGGAG |
GAGGAGTAGGAG |
9: 99,465,750 (GRCm39) |
|
probably null |
Het |
E4f1 |
CGC |
CGCGGC |
17: 24,674,164 (GRCm39) |
|
probably benign |
Het |
Eps8 |
TCGCTC |
TCGCTCGCTC |
6: 137,494,061 (GRCm39) |
|
probably benign |
Het |
Ermn |
AACT |
AACTACT |
2: 57,938,078 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,824,352 (GRCm39) |
|
probably null |
Het |
Gab3 |
CTTCTT |
CTTATTCTT |
X: 74,043,606 (GRCm39) |
|
probably null |
Het |
Gab3 |
TCT |
TCTGCT |
X: 74,043,623 (GRCm39) |
|
probably benign |
Het |
Gabre |
CTC |
CTCTGGGTC |
X: 71,314,369 (GRCm39) |
|
probably benign |
Het |
Gm7579 |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG |
7: 141,765,782 (GRCm39) |
|
probably benign |
Het |
Gm8369 |
TG |
TGGGTGAG |
19: 11,489,137 (GRCm39) |
|
probably null |
Het |
Hsdl2 |
CAGCTGCAG |
CAGCTGCAGCAGCAGCCATAGCTGCAG |
4: 59,610,650 (GRCm39) |
|
probably null |
Het |
Iqcf4 |
TTTTCCTTTT |
TTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCGTTTCCTTTT |
9: 106,447,813 (GRCm39) |
|
probably benign |
Het |
Kmt2e |
TTT |
TTTTATT |
5: 23,683,507 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
AGCCACAGCCACCACAGCCACAGCCACCAC |
AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC |
1: 83,019,979 (GRCm39) |
|
probably benign |
Het |
Lce1m |
GTTGCTGCCACTG |
GTTGCTGCCACTGTTGCTGCCACTG |
3: 92,925,438 (GRCm39) |
|
probably benign |
Het |
Loricrin |
CGCCGCCT |
C |
3: 91,989,206 (GRCm39) |
|
probably null |
Het |
Luzp1 |
A |
AGGTGGCCTCTTCAGG |
4: 136,270,507 (GRCm39) |
|
probably benign |
Het |
Lypd8 |
CCAACA |
CCAACAGGTCCCTCGCCTCTGTTACCCCACAAATAAACAACA |
11: 58,281,065 (GRCm39) |
|
probably benign |
Het |
Mn1 |
CAG |
CAGGAG |
5: 111,567,577 (GRCm39) |
|
probably benign |
Het |
Nefh |
GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGACTTGGCCTCACCTGTGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,012 (GRCm39) |
|
probably benign |
Het |
Nefh |
GGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
GGGGACTTGGCCTCACCTTGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,029 (GRCm39) |
|
probably benign |
Het |
Nf2 |
AAAAG |
A |
11: 4,779,936 (GRCm39) |
|
probably null |
Het |
Nusap1 |
AGAT |
AGATCCACGTTAGCAGTGAGGAGCAAGCTGCGAT |
2: 119,458,059 (GRCm39) |
|
probably benign |
Het |
Nusap1 |
CAGTGAGGAGCAAGCTGAGA |
CAGTGAGGAGCAAGCTGAGATACACGTTAGTAGTGAGGAGCAAGCTGAGA |
2: 119,458,072 (GRCm39) |
|
probably benign |
Het |
Phf20 |
CCCCCC |
CCCCCCGCCCCC |
2: 156,146,543 (GRCm39) |
|
probably benign |
Het |
Ppp1r8 |
TCTCTCTCAC |
TC |
4: 132,557,926 (GRCm39) |
|
probably benign |
Het |
Prr5l |
GCCTC |
G |
2: 101,627,918 (GRCm39) |
|
probably null |
Het |
Rbm12 |
CGGGACCGGGCATTGCGGGACCGGGCATTGCGGG |
CGG |
2: 155,938,050 (GRCm39) |
|
probably null |
Het |
Rpgrip1 |
GA |
GAGTA |
14: 52,386,855 (GRCm39) |
|
probably null |
Het |
Spmap2l |
AGCGATCCTCCCCAGTCCCGCAAGGCC |
AGCGATCCTCCCCAGTCCCGCAAGGCCCGCGATCCTCCCCAGTCCCGCAAGGCC |
5: 77,164,248 (GRCm39) |
|
probably benign |
Het |
Tanc1 |
GTGAGCAGAAACCAGCATTTAGAGGGAACCGGTCCCTTCACTGCAGGAA |
G |
2: 59,673,613 (GRCm39) |
|
probably benign |
Het |
Tfeb |
GCA |
GCATCA |
17: 48,097,022 (GRCm39) |
|
probably benign |
Het |
Tgoln1 |
T |
TTGTCTTGTCAGAATCACCTCCTGG |
6: 72,593,019 (GRCm39) |
|
probably benign |
Het |
Tob1 |
CACA |
CACAACA |
11: 94,105,277 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
GCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT |
15: 72,673,139 (GRCm39) |
|
probably benign |
Het |
Triobp |
CAGGACT |
CAGGACTGCCTGTGCCCAACGGAACAACCCAAGGACT |
15: 78,851,239 (GRCm39) |
|
probably benign |
Het |
Zfhx3 |
AACAGCAGC |
AACAGCAGCTACAGCAGC |
8: 109,682,728 (GRCm39) |
|
probably benign |
Het |
Zfp933 |
TT |
TTTGCCT |
4: 147,910,188 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Kri1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01081:Kri1
|
APN |
9 |
21,191,723 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02272:Kri1
|
APN |
9 |
21,187,464 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03229:Kri1
|
APN |
9 |
21,193,366 (GRCm39) |
missense |
probably damaging |
1.00 |
FR4548:Kri1
|
UTSW |
9 |
21,192,346 (GRCm39) |
small deletion |
probably benign |
|
R0040:Kri1
|
UTSW |
9 |
21,192,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R0054:Kri1
|
UTSW |
9 |
21,186,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R0054:Kri1
|
UTSW |
9 |
21,186,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R0284:Kri1
|
UTSW |
9 |
21,187,848 (GRCm39) |
splice site |
probably benign |
|
R0665:Kri1
|
UTSW |
9 |
21,192,936 (GRCm39) |
intron |
probably benign |
|
R1632:Kri1
|
UTSW |
9 |
21,193,507 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1640:Kri1
|
UTSW |
9 |
21,191,753 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1847:Kri1
|
UTSW |
9 |
21,191,788 (GRCm39) |
splice site |
probably benign |
|
R3154:Kri1
|
UTSW |
9 |
21,193,190 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4222:Kri1
|
UTSW |
9 |
21,192,359 (GRCm39) |
missense |
probably benign |
0.00 |
R4572:Kri1
|
UTSW |
9 |
21,191,680 (GRCm39) |
missense |
probably damaging |
1.00 |
R4905:Kri1
|
UTSW |
9 |
21,198,998 (GRCm39) |
missense |
probably benign |
0.19 |
R5236:Kri1
|
UTSW |
9 |
21,187,237 (GRCm39) |
missense |
probably damaging |
1.00 |
R5539:Kri1
|
UTSW |
9 |
21,190,668 (GRCm39) |
nonsense |
probably null |
|
R5696:Kri1
|
UTSW |
9 |
21,191,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R5701:Kri1
|
UTSW |
9 |
21,192,425 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6031:Kri1
|
UTSW |
9 |
21,186,565 (GRCm39) |
missense |
probably benign |
0.03 |
R6031:Kri1
|
UTSW |
9 |
21,186,565 (GRCm39) |
missense |
probably benign |
0.03 |
R6991:Kri1
|
UTSW |
9 |
21,199,050 (GRCm39) |
unclassified |
probably benign |
|
R6994:Kri1
|
UTSW |
9 |
21,199,083 (GRCm39) |
unclassified |
probably benign |
|
R7095:Kri1
|
UTSW |
9 |
21,190,728 (GRCm39) |
missense |
|
|
R7339:Kri1
|
UTSW |
9 |
21,197,883 (GRCm39) |
missense |
|
|
R7652:Kri1
|
UTSW |
9 |
21,192,352 (GRCm39) |
small deletion |
probably benign |
|
R7787:Kri1
|
UTSW |
9 |
21,192,380 (GRCm39) |
missense |
|
|
R7908:Kri1
|
UTSW |
9 |
21,192,352 (GRCm39) |
small deletion |
probably benign |
|
R8781:Kri1
|
UTSW |
9 |
21,191,748 (GRCm39) |
missense |
|
|
R9140:Kri1
|
UTSW |
9 |
21,187,434 (GRCm39) |
missense |
|
|
R9783:Kri1
|
UTSW |
9 |
21,190,709 (GRCm39) |
missense |
|
|
RF027:Kri1
|
UTSW |
9 |
21,192,364 (GRCm39) |
frame shift |
probably null |
|
RF058:Kri1
|
UTSW |
9 |
21,192,362 (GRCm39) |
frame shift |
probably null |
|
Z1088:Kri1
|
UTSW |
9 |
21,185,418 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- CACCCTGCAAAGAGGTGAATG -3'
(R):5'- TAGGTCCATCCCAGGCTATCTC -3'
Sequencing Primer
(F):5'- TTTGAACATCGGACCTTCGGAAG -3'
(R):5'- ATCCCAGGCTATCTCTGTGC -3'
|
Posted On |
2019-12-04 |