Incidental Mutation 'R5701:Kri1'
| ID |
450891 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kri1
|
| Ensembl Gene |
ENSMUSG00000035047 |
| Gene Name |
KRI1 homolog |
| Synonyms |
|
| MMRRC Submission |
043181-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5701 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
21184753-21199265 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 21192425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 241
(K241M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039688
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038671]
[ENSMUST00000065005]
[ENSMUST00000184326]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038671
AA Change: K241M
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000039688
Gene: ENSMUSG00000035047
AA Change: K241M
| 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 |
noncoding transcript
Transcript: ENSMUST00000183503
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183912
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000184326
AA Change: K123M
PolyPhen 2
Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139184
Gene: ENSMUSG00000035047
AA Change: K123M
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192279
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armc8 |
A |
G |
9: 99,378,202 (GRCm39) |
|
probably null |
Het |
| Asxl1 |
A |
G |
2: 153,241,409 (GRCm39) |
E653G |
probably damaging |
Het |
| AW551984 |
G |
A |
9: 39,504,118 (GRCm39) |
A616V |
probably benign |
Het |
| Birc6 |
T |
C |
17: 75,004,420 (GRCm39) |
M4763T |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 36,975,509 (GRCm39) |
M727K |
probably benign |
Het |
| Cand2 |
T |
G |
6: 115,774,893 (GRCm39) |
F1034V |
probably damaging |
Het |
| Ccdc80 |
T |
C |
16: 44,936,741 (GRCm39) |
V722A |
possibly damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Chrnd |
G |
A |
1: 87,125,380 (GRCm39) |
V340I |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,751,366 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,513,617 (GRCm39) |
E1920G |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 48,403,729 (GRCm39) |
F194I |
probably damaging |
Het |
| D930048N14Rik |
T |
A |
11: 51,544,556 (GRCm39) |
|
probably null |
Het |
| Defa28 |
T |
C |
8: 22,073,863 (GRCm39) |
Y89H |
probably benign |
Het |
| Dnah1 |
C |
T |
14: 30,996,001 (GRCm39) |
G2705E |
probably damaging |
Het |
| Eci2 |
A |
T |
13: 35,174,250 (GRCm39) |
S104T |
possibly damaging |
Het |
| Ep300 |
T |
C |
15: 81,485,696 (GRCm39) |
S228P |
unknown |
Het |
| Gabrb2 |
T |
A |
11: 42,378,201 (GRCm39) |
M139K |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,266,265 (GRCm39) |
N592I |
possibly damaging |
Het |
| Gpr158 |
C |
T |
2: 21,751,520 (GRCm39) |
R480C |
probably damaging |
Het |
| Gps1 |
A |
G |
11: 120,676,008 (GRCm39) |
D71G |
probably benign |
Het |
| Hoxc9 |
T |
C |
15: 102,890,313 (GRCm39) |
Y77H |
possibly damaging |
Het |
| Il9r |
T |
A |
11: 32,143,263 (GRCm39) |
Y231F |
probably benign |
Het |
| Klhl1 |
A |
G |
14: 96,438,816 (GRCm39) |
M494T |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,519,015 (GRCm39) |
V2365A |
probably benign |
Het |
| Macf1 |
A |
T |
4: 123,397,018 (GRCm39) |
C928S |
probably damaging |
Het |
| Mcm2 |
T |
C |
6: 88,870,073 (GRCm39) |
D32G |
probably damaging |
Het |
| Mex3d |
T |
C |
10: 80,217,379 (GRCm39) |
T613A |
probably benign |
Het |
| Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,675,964 (GRCm39) |
I241V |
probably benign |
Het |
| Myo6 |
C |
T |
9: 80,165,809 (GRCm39) |
T398I |
probably damaging |
Het |
| Nckap1l |
G |
A |
15: 103,381,195 (GRCm39) |
A366T |
probably benign |
Het |
| Or5m11 |
A |
G |
2: 85,782,168 (GRCm39) |
T254A |
possibly damaging |
Het |
| Plscr5 |
A |
T |
9: 92,087,564 (GRCm39) |
K178* |
probably null |
Het |
| Rapgef6 |
T |
C |
11: 54,567,220 (GRCm39) |
W857R |
possibly damaging |
Het |
| Raxos1 |
G |
A |
18: 66,071,059 (GRCm39) |
|
probably benign |
Het |
| Rnf145 |
G |
A |
11: 44,422,120 (GRCm39) |
V68M |
possibly damaging |
Het |
| Slc66a2 |
T |
A |
18: 80,315,693 (GRCm39) |
D118E |
possibly damaging |
Het |
| Synpo2 |
C |
G |
3: 122,873,879 (GRCm39) |
G1029A |
probably damaging |
Het |
| Tbc1d5 |
TTGCTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG |
17: 51,106,983 (GRCm39) |
|
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,367,816 (GRCm39) |
Y392C |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,404,492 (GRCm39) |
F304L |
probably benign |
Het |
| Zfp316 |
C |
T |
5: 143,240,132 (GRCm39) |
G629D |
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 |
|
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 |
|
|
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'- CACCCTGCAAAGAGGTGAATG -3'
(R):5'- GCACATGAACAGTTTCTGGACTAC -3'
Sequencing Primer
(F):5'- TTTGAACATCGGACCTTCGGAAG -3'
(R):5'- GCTACACGGTCAGACATTGTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation