Mutagenetix > Incidental Mutation

Incidental Mutation 'R6031:Kri1'

480408

Institutional Source

Beutler Lab

Gene Symbol

Kri1

Ensembl Gene

ENSMUSG00000035047

Gene Name

KRI1 homolog

Synonyms

MMRRC Submission

044203-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6031 (G1)

Quality Score

218.009

Status

Not validated

Chromosome

Chromosomal Location

21184753-21199265 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21186565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 597 (E597G)

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 benign
Transcript: ENSMUST00000038671
AA Change: E597G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000039688
Gene: ENSMUSG00000035047
AA Change: E597G

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: ENSMUST00000183912

Predicted Effect

probably benign
Transcript: ENSMUST00000184326
AA Change: E479G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000139184
Gene: ENSMUSG00000035047
AA Change: E479G

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: ENSMUST00000184410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217591

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 96.7%
20x: 88.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 9,214,084 (GRCm39)	Y304H	possibly damaging	Het
Add2	A	G	6: 86,075,655 (GRCm39)	E268G	probably damaging	Het
Akr1b1	A	C	6: 34,289,609 (GRCm39)	V67G	probably benign	Het
Alms1	A	T	6: 85,599,937 (GRCm39)	N1588Y	probably damaging	Het
Arhgap23	A	T	11: 97,366,965 (GRCm39)	D1082V	probably damaging	Het
Asb6	A	G	2: 30,714,207 (GRCm39)	V301A	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Atg7	T	A	6: 114,648,194 (GRCm39)	C31S	probably benign	Het
Camsap2	A	T	1: 136,208,176 (GRCm39)	N1105K	possibly damaging	Het
Ccdc125	C	T	13: 100,820,877 (GRCm39)		probably null	Het
Ccdc63	T	C	5: 122,267,799 (GRCm39)	I56V	possibly damaging	Het
Cpd	T	C	11: 76,681,714 (GRCm39)	E1143G	probably benign	Het
Cpt1a	T	A	19: 3,421,556 (GRCm39)		probably null	Het
Creb3l2	A	T	6: 37,311,369 (GRCm39)	D473E	probably benign	Het
Crocc	A	T	4: 140,761,668 (GRCm39)		probably null	Het
Ctsd	A	T	7: 141,930,451 (GRCm39)	C364S	probably damaging	Het
Disp2	G	T	2: 118,620,275 (GRCm39)	V336L	probably benign	Het
Efr3b	A	G	12: 4,017,106 (GRCm39)	I782T	possibly damaging	Het
Fam98a	A	G	17: 75,846,427 (GRCm39)	V230A	probably damaging	Het
Fat3	T	A	9: 15,899,788 (GRCm39)	T3082S	probably benign	Het
Frmd3	T	C	4: 74,105,688 (GRCm39)	Y445H	probably damaging	Het
Galt	G	A	4: 41,757,202 (GRCm39)	R185Q	probably benign	Het
Gatb	T	C	3: 85,520,818 (GRCm39)	I309T	possibly damaging	Het
Gfi1b	G	A	2: 28,503,820 (GRCm39)	Q127*	probably null	Het
Gfpt1	C	A	6: 87,063,302 (GRCm39)	T563N	probably damaging	Het
Gria1	A	G	11: 57,108,608 (GRCm39)	D237G	probably damaging	Het
Hspbp1	A	T	7: 4,666,465 (GRCm39)	V305D	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Iars1	T	C	13: 49,859,307 (GRCm39)	V9A	probably damaging	Het
Ipo4	G	A	14: 55,869,596 (GRCm39)	P355S	probably damaging	Het
Jade2	G	T	11: 51,717,413 (GRCm39)	C314*	probably null	Het
Mcub	A	G	3: 129,720,038 (GRCm39)	Y152H	probably damaging	Het
Med23	C	T	10: 24,779,646 (GRCm39)	R542*	probably null	Het
Ndc80	T	C	17: 71,818,483 (GRCm39)	N291S	probably benign	Het
Nop2	T	C	6: 125,110,529 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,896,218 (GRCm39)	N984S	probably damaging	Het
Ntm	A	C	9: 28,920,671 (GRCm39)	L86R	probably damaging	Het
Numa1	T	A	7: 101,661,219 (GRCm39)	D1847E	possibly damaging	Het
Odf2l	A	G	3: 144,845,624 (GRCm39)	Q334R	probably damaging	Het
Or10ak11	A	T	4: 118,687,588 (GRCm39)		probably null	Het
Or2ag2	C	T	7: 106,485,134 (GRCm39)	V297I	possibly damaging	Het
Or4a39	T	A	2: 89,237,316 (GRCm39)	T36S	probably damaging	Het
Or5ac17	T	C	16: 59,036,296 (GRCm39)	R227G	probably benign	Het
Or6ae1	A	T	7: 139,742,722 (GRCm39)	V47E	possibly damaging	Het
Or6c203	A	G	10: 129,010,224 (GRCm39)	V222A	probably benign	Het
Pacc1	A	G	1: 191,073,037 (GRCm39)	R153G	probably benign	Het
Pcdhb19	A	T	18: 37,630,776 (GRCm39)	K190N	probably damaging	Het
Pdik1l	A	G	4: 134,006,352 (GRCm39)	F197L	probably damaging	Het
Rnf113a2	T	C	12: 84,464,764 (GRCm39)	F219L	probably damaging	Het
Rnf208	A	C	2: 25,133,776 (GRCm39)	T157P	probably damaging	Het
Scn8a	A	T	15: 100,881,865 (GRCm39)	D644V	probably damaging	Het
Thbs3	T	A	3: 89,125,401 (GRCm39)	C204S	probably damaging	Het
Tlr3	A	G	8: 45,851,565 (GRCm39)	I444T	probably damaging	Het
Trpm8	A	T	1: 88,282,191 (GRCm39)	I696F	possibly damaging	Het
Ttn	A	T	2: 76,660,941 (GRCm39)	V7422D	possibly damaging	Het
Ufl1	A	G	4: 25,278,038 (GRCm39)	V139A	probably benign	Het
Uggt2	A	T	14: 119,308,238 (GRCm39)	V381D	probably benign	Het
Vgll3	T	A	16: 65,636,367 (GRCm39)	Y173N	probably damaging	Het
Vmn1r9	A	G	6: 57,048,158 (GRCm39)	T78A	probably benign	Het
Vps13b	T	A	15: 35,472,114 (GRCm39)	L806M	probably damaging	Het
Vps13d	A	C	4: 144,895,079 (GRCm39)	H394Q	probably benign	Het
Wdr53	T	A	16: 32,075,536 (GRCm39)	V247D	probably damaging	Het
Wdr81	A	T	11: 75,338,695 (GRCm39)	L1488Q	probably damaging	Het
Zc3h6	A	G	2: 128,809,732 (GRCm39)	D3G	possibly damaging	Het
Zfp93	G	T	7: 23,975,725 (GRCm39)	C570F	probably damaging	Het
Zfp943	C	T	17: 22,212,357 (GRCm39)	T481I	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
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

Posted On

2017-06-26