Incidental Mutation 'RF027:Kri1'
ID |
604194 |
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 # |
RF027 (G1)
|
Quality Score |
138.467 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
21184753-21199265 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
CTCCTCCT to C
at 21192364 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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Blm |
CCTCCTCCTCCTC |
CCTCCTCCTCCTCTCCTCCTCCTC |
7: 80,162,662 (GRCm39) |
|
probably null |
Het |
Cacna1f |
GAG |
GAGTAG |
X: 7,486,293 (GRCm39) |
|
probably null |
Het |
Ccdc170 |
ACC |
ACCTCC |
10: 4,511,026 (GRCm39) |
|
probably benign |
Het |
Cul9 |
CTTC |
CTTCTTC |
17: 46,811,774 (GRCm39) |
|
probably benign |
Het |
Cyb5r4 |
AGACACACTGCCCAGG |
AGACACACTGCCCAGGTATGTGACCGACACACTGCCCAGG |
9: 86,922,484 (GRCm39) |
|
probably benign |
Het |
Dmkn |
GTGGA |
GTGGACGTGGTGGAAGTGGTGGAAGTGTTGGA |
7: 30,466,619 (GRCm39) |
|
probably benign |
Het |
Dnaaf9 |
CTC |
CTCGTC |
2: 130,612,664 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
CCCTCCCG |
C |
17: 30,854,450 (GRCm39) |
|
probably null |
Het |
Fam171b |
AGCAGC |
AGCAGCTGCAGC |
2: 83,643,220 (GRCm39) |
|
probably benign |
Het |
Flywch1 |
TCACTCACCCACTCCTGGTGT |
TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT |
17: 23,981,132 (GRCm39) |
|
probably null |
Het |
Ifi208 |
AGATG |
AG |
1: 173,505,262 (GRCm39) |
|
probably benign |
Het |
Irag2 |
TG |
TGAGCACATGG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
Krtap28-10 |
CACAGC |
CACAGCCACAGCCACAACAGC |
1: 83,020,006 (GRCm39) |
|
probably benign |
Het |
Loricrin |
ATAGCCG |
A |
3: 91,989,183 (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 |
Mn1 |
CAG |
CAGAAG |
5: 111,567,571 (GRCm39) |
|
probably benign |
Het |
Mnd1 |
G |
A |
3: 84,041,366 (GRCm39) |
L79F |
possibly damaging |
Het |
Nolc1 |
AGCAGCAGC |
AGCAGCAGCGGCAGCAGC |
19: 46,069,802 (GRCm39) |
|
probably benign |
Het |
Pdcd11 |
GGAGGAG |
GG |
19: 47,101,888 (GRCm39) |
|
probably null |
Het |
Rbfox2 |
G |
T |
15: 77,016,973 (GRCm39) |
Q134K |
possibly damaging |
Het |
Tcof1 |
AGC |
AGCTGC |
18: 60,968,808 (GRCm39) |
|
probably benign |
Het |
Tent4a |
GACA |
G |
13: 69,681,973 (GRCm39) |
|
probably benign |
Het |
Ttf2 |
TTCT |
TTCTTCT |
3: 100,870,473 (GRCm39) |
|
probably benign |
Het |
Ubtf |
CTTC |
CTTCTTC |
11: 102,197,771 (GRCm39) |
|
probably benign |
Het |
Vmn2r58 |
CAAAATGATGTAGCACTT |
C |
7: 41,486,383 (GRCm39) |
|
probably null |
Het |
Zfhx3 |
CAGCAGCA |
CAGCAGCAAGAGCAGCA |
8: 109,682,730 (GRCm39) |
|
probably benign |
Het |
Zfp384 |
CCCAGGC |
CCCAGGCCCAGGACCAGGC |
6: 125,013,453 (GRCm39) |
|
probably benign |
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 |
|
|
RF028:Kri1
|
UTSW |
9 |
21,192,367 (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'- CCCTGCAAAGAGGTGAATGTAATG -3'
(R):5'- CATCCCAGGCTATCTCTGTG -3'
Sequencing Primer
(F):5'- TTTGAACATCGGACCTTCGGAAG -3'
(R):5'- TCTGTGCCCCTCACCAGG -3'
|
Posted On |
2019-12-04 |