Incidental Mutation 'R3154:Kri1'
| ID |
263407 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kri1
|
| Ensembl Gene |
ENSMUSG00000035047 |
| Gene Name |
KRI1 homolog |
| Synonyms |
|
| MMRRC Submission |
040605-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3154 (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 C
at 21193190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 57
(E57G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139184
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038671]
[ENSMUST00000065005]
[ENSMUST00000184326]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038671
AA Change: E175G
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000039688
Gene: ENSMUSG00000035047
AA Change: E175G
| 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: E57G
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139184
Gene: ENSMUSG00000035047
AA Change: E57G
| 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: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
A |
C |
2: 152,282,744 (GRCm39) |
N200H |
probably damaging |
Het |
| Abca17 |
T |
A |
17: 24,547,720 (GRCm39) |
D218V |
probably damaging |
Het |
| Ap1b1 |
T |
C |
11: 4,973,135 (GRCm39) |
V326A |
possibly damaging |
Het |
| Bdp1 |
A |
T |
13: 100,186,322 (GRCm39) |
V1710E |
probably damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
| Cnnm3 |
T |
A |
1: 36,560,303 (GRCm39) |
S608T |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Cobll1 |
A |
T |
2: 64,937,394 (GRCm39) |
M406K |
probably benign |
Het |
| Cyp2d34 |
T |
C |
15: 82,501,767 (GRCm39) |
K248E |
probably benign |
Het |
| Dcdc2a |
A |
C |
13: 25,286,340 (GRCm39) |
I125L |
probably benign |
Het |
| Dgat1 |
G |
A |
15: 76,386,721 (GRCm39) |
L439F |
probably benign |
Het |
| Disc1 |
T |
A |
8: 125,862,043 (GRCm39) |
S472T |
probably damaging |
Het |
| Dnajb3 |
C |
A |
1: 88,132,773 (GRCm39) |
V210F |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,570,230 (GRCm39) |
S1394G |
possibly damaging |
Het |
| Fasn |
A |
T |
11: 120,698,765 (GRCm39) |
L2475Q |
probably damaging |
Het |
| Fn1 |
A |
T |
1: 71,632,242 (GRCm39) |
C2335S |
probably damaging |
Het |
| Gpld1 |
T |
C |
13: 25,127,603 (GRCm39) |
S2P |
unknown |
Het |
| Gpld1 |
G |
T |
13: 25,140,146 (GRCm39) |
|
probably null |
Het |
| Gsc2 |
G |
A |
16: 17,732,364 (GRCm39) |
R137W |
probably damaging |
Het |
| Gsdme |
T |
C |
6: 50,228,343 (GRCm39) |
R42G |
probably damaging |
Het |
| Gtf3c5 |
T |
C |
2: 28,469,548 (GRCm39) |
T119A |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 120,106,389 (GRCm39) |
S266P |
probably damaging |
Het |
| Htr2a |
T |
C |
14: 74,943,262 (GRCm39) |
F281L |
probably benign |
Het |
| Hus1b |
T |
C |
13: 31,131,236 (GRCm39) |
K141R |
probably benign |
Het |
| Ireb2 |
T |
C |
9: 54,793,230 (GRCm39) |
|
probably null |
Het |
| Klhdc7a |
T |
A |
4: 139,693,024 (GRCm39) |
Y641F |
probably benign |
Het |
| Map4 |
A |
G |
9: 109,828,860 (GRCm39) |
T82A |
probably benign |
Het |
| Mthfr |
T |
G |
4: 148,136,061 (GRCm39) |
M353R |
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,240,083 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,346,473 (GRCm39) |
|
probably null |
Het |
| Myo15a |
T |
A |
11: 60,370,186 (GRCm39) |
|
probably null |
Het |
| Nynrin |
A |
T |
14: 56,101,044 (GRCm39) |
Q278L |
possibly damaging |
Het |
| Pced1b |
T |
G |
15: 97,282,423 (GRCm39) |
|
probably null |
Het |
| Penk |
T |
C |
4: 4,134,152 (GRCm39) |
D165G |
probably damaging |
Het |
| Pfkm |
T |
A |
15: 98,016,090 (GRCm39) |
V90D |
probably damaging |
Het |
| Pgk2 |
T |
A |
17: 40,519,134 (GRCm39) |
D98V |
probably damaging |
Het |
| Psg28 |
C |
A |
7: 18,160,348 (GRCm39) |
A283S |
possibly damaging |
Het |
| Rgl3 |
A |
G |
9: 21,892,070 (GRCm39) |
L338P |
probably damaging |
Het |
| Rnf126 |
A |
T |
10: 79,597,465 (GRCm39) |
I149N |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 51,927,077 (GRCm39) |
H2181R |
probably benign |
Het |
| Slc38a11 |
C |
T |
2: 65,160,679 (GRCm39) |
C305Y |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,378,186 (GRCm39) |
V798E |
probably damaging |
Het |
| Spesp1 |
G |
A |
9: 62,189,376 (GRCm39) |
|
probably benign |
Het |
| Styk1 |
A |
T |
6: 131,286,975 (GRCm39) |
Y84* |
probably null |
Het |
| Syt2 |
T |
C |
1: 134,669,599 (GRCm39) |
L80P |
possibly damaging |
Het |
| Tra2a |
C |
T |
6: 49,222,446 (GRCm39) |
|
probably benign |
Het |
| Trim10 |
T |
A |
17: 37,182,580 (GRCm39) |
C149S |
probably damaging |
Het |
| Vmn2r38 |
T |
C |
7: 9,097,689 (GRCm39) |
T135A |
probably benign |
Het |
| Wipf1 |
A |
G |
2: 73,267,834 (GRCm39) |
V188A |
possibly damaging |
Het |
| Yipf2 |
G |
A |
9: 21,501,197 (GRCm39) |
A67V |
probably benign |
Het |
| Zfp759 |
A |
G |
13: 67,286,719 (GRCm39) |
E96G |
probably benign |
Het |
| Zic3 |
G |
A |
X: 57,076,838 (GRCm39) |
V100M |
possibly 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 |
|
|
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 |
|
|
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'- GCCACTCAAGGTAGTCCACTTC -3'
(R):5'- GACATCCAATCCCTCCGTAG -3'
Sequencing Primer
(F):5'- AAGGTAGTCCACTTCCTCCTGG -3'
(R):5'- TCCACAAAGAGTTATGTAGAAGAGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation