Incidental Mutation 'R9783:Kri1'
| ID |
734167 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kri1
|
| Ensembl Gene |
ENSMUSG00000035047 |
| Gene Name |
KRI1 homolog |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9783 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21184753-21199265 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 21190709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 384
(E384G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039688
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038671]
[ENSMUST00000065005]
[ENSMUST00000184326]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000039688
Gene: ENSMUSG00000035047
AA Change: E384G
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000139184
Gene: ENSMUSG00000035047
AA Change: E266G
| 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: 99.9%
- 3x: 99.8%
- 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cdkn2aip |
A |
G |
8: 48,164,090 (GRCm39) |
V541A |
possibly damaging |
Het |
| Cep170b |
C |
A |
12: 112,711,118 (GRCm39) |
D1499E |
probably damaging |
Het |
| Cers2 |
T |
C |
3: 95,229,438 (GRCm39) |
S248P |
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,458,865 (GRCm39) |
I1076N |
probably damaging |
Het |
| Col6a2 |
T |
C |
10: 76,440,720 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
A |
6: 87,088,602 (GRCm39) |
G255D |
unknown |
Het |
| Dennd5b |
T |
C |
6: 148,911,342 (GRCm39) |
T954A |
probably damaging |
Het |
| Dmc1 |
A |
G |
15: 79,484,296 (GRCm39) |
L65P |
probably damaging |
Het |
| Dock2 |
A |
G |
11: 34,208,128 (GRCm39) |
Y1307H |
possibly damaging |
Het |
| Gckr |
G |
A |
5: 31,466,399 (GRCm39) |
S458N |
probably benign |
Het |
| Gpx4 |
T |
C |
10: 79,890,851 (GRCm39) |
V181A |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,598,380 (GRCm39) |
E1641K |
probably benign |
Het |
| Htr7 |
A |
G |
19: 35,946,787 (GRCm39) |
I409T |
probably damaging |
Het |
| Ighv8-9 |
C |
T |
12: 115,431,994 (GRCm39) |
V106M |
probably benign |
Het |
| Lyz3 |
T |
C |
10: 117,073,653 (GRCm39) |
N60S |
possibly damaging |
Het |
| Mfhas1 |
T |
C |
8: 36,057,934 (GRCm39) |
L803P |
probably damaging |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Noxa1 |
C |
A |
2: 24,985,053 (GRCm39) |
|
probably benign |
Het |
| Or1j16 |
A |
G |
2: 36,530,161 (GRCm39) |
T37A |
probably benign |
Het |
| Or5d38 |
A |
T |
2: 87,954,610 (GRCm39) |
F240I |
probably benign |
Het |
| Otof |
T |
C |
5: 30,536,576 (GRCm39) |
K1302E |
probably benign |
Het |
| Pdcl |
A |
G |
2: 37,242,174 (GRCm39) |
V192A |
probably benign |
Het |
| Plxdc2 |
C |
T |
2: 16,674,349 (GRCm39) |
Q310* |
probably null |
Het |
| Pola2 |
C |
T |
19: 5,990,904 (GRCm39) |
V597M |
probably damaging |
Het |
| Prkcd |
T |
A |
14: 30,321,444 (GRCm39) |
Y549F |
probably damaging |
Het |
| Rho |
T |
C |
6: 115,910,920 (GRCm39) |
M155T |
probably benign |
Het |
| Scap |
C |
T |
9: 110,202,132 (GRCm39) |
H167Y |
probably benign |
Het |
| Sfn |
T |
C |
4: 133,329,128 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Slc13a2 |
T |
A |
11: 78,294,177 (GRCm39) |
T235S |
probably damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,951,513 (GRCm39) |
S215P |
probably damaging |
Het |
| Spam1 |
G |
A |
6: 24,796,226 (GRCm39) |
R59H |
probably benign |
Het |
| Tmeff1 |
T |
C |
4: 48,662,005 (GRCm39) |
C347R |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,887,890 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
G |
T |
5: 87,388,840 (GRCm39) |
L458M |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,392,227 (GRCm39) |
I2042F |
probably benign |
Het |
| Zfp12 |
C |
A |
5: 143,230,513 (GRCm39) |
T312K |
probably damaging |
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 |
|
|
|
RF027:Kri1
|
UTSW |
9 |
21,192,364 (GRCm39) |
frame shift |
probably null |
|
|
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'- CAGTATGTAACCCACTGTTCCTACG -3'
(R):5'- AACTGCTTGCATTGGGAGGC -3'
Sequencing Primer
(F):5'- AACCCACTGTTCCTACGCACTG -3'
(R):5'- CCCCAGTGCAAGGCTCTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation