Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02272:Kri1'

287177

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kri1

Ensembl Gene

ENSMUSG00000035047

Gene Name

KRI1 homolog

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02272

Quality Score

Status

Chromosome

Chromosomal Location

21184753-21199265 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21187464 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 343 (Y343C)

Ref Sequence

ENSEMBL: ENSMUSP00000139184 (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: Y461C

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000039688
Gene: ENSMUSG00000035047
AA Change: Y461C

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 damaging
Transcript: ENSMUST00000184326
AA Change: Y343C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139184
Gene: ENSMUSG00000035047
AA Change: Y343C

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: ENSMUST00000184615

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192279

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216826

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217591

Coding Region Coverage

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,757,021 (GRCm39)	C759*	probably null	Het
Adgrg6	T	A	10: 14,344,573 (GRCm39)	M127L	probably damaging	Het
Anxa9	A	G	3: 95,213,205 (GRCm39)	V47A	probably benign	Het
Arhgef12	T	A	9: 42,912,748 (GRCm39)	D483V	probably damaging	Het
Arrdc3	C	A	13: 81,039,769 (GRCm39)		probably benign	Het
Ccdc169	A	G	3: 55,058,169 (GRCm39)	E67G	probably damaging	Het
Ccdc191	T	A	16: 43,780,385 (GRCm39)	V731D	possibly damaging	Het
Cdh3	G	T	8: 107,274,468 (GRCm39)		probably null	Het
Cntnap1	G	A	11: 101,069,142 (GRCm39)	V199M	probably damaging	Het
Cntnap3	A	T	13: 64,905,225 (GRCm39)	V852E	probably damaging	Het
Csmd1	A	T	8: 16,249,907 (GRCm39)	S1024T	probably damaging	Het
Cyp3a25	T	C	5: 145,930,075 (GRCm39)		probably benign	Het
Dusp6	T	A	10: 99,101,881 (GRCm39)	V289D	probably damaging	Het
Ecpas	A	T	4: 58,811,731 (GRCm39)	N1439K	probably benign	Het
Epha6	C	T	16: 59,639,300 (GRCm39)	R858Q	probably damaging	Het
Flrt2	T	A	12: 95,746,478 (GRCm39)	F272Y	probably damaging	Het
Gbf1	T	A	19: 46,258,242 (GRCm39)	W846R	probably damaging	Het
Gtpbp2	T	A	17: 46,475,707 (GRCm39)	V152E	probably benign	Het
Hmces	A	G	6: 87,894,837 (GRCm39)		probably null	Het
Hsph1	A	G	5: 149,540,995 (GRCm39)	S852P	probably benign	Het
Kat6b	A	C	14: 21,676,846 (GRCm39)	K394Q	probably damaging	Het
Kdr	G	A	5: 76,122,500 (GRCm39)	T475I	probably benign	Het
Klhl25	A	G	7: 75,516,368 (GRCm39)	T425A	probably benign	Het
Klk1b8	T	A	7: 43,602,217 (GRCm39)	C50S	probably damaging	Het
Lamb1	T	C	12: 31,355,768 (GRCm39)	S953P	probably benign	Het
Lpin1	A	G	12: 16,597,601 (GRCm39)	V681A	probably damaging	Het
Lpin3	A	G	2: 160,743,581 (GRCm39)	T508A	probably benign	Het
Moxd1	T	A	10: 24,158,598 (GRCm39)	Y417*	probably null	Het
Mthfd1l	T	G	10: 3,991,812 (GRCm39)	I588S	probably damaging	Het
Myo5c	C	A	9: 75,173,442 (GRCm39)	N543K	possibly damaging	Het
Myo9a	T	A	9: 59,791,883 (GRCm39)		probably benign	Het
Nme8	T	C	13: 19,842,996 (GRCm39)	Y393C	probably damaging	Het
Nr2e1	T	G	10: 42,443,975 (GRCm39)	N249T	probably damaging	Het
Pex11g	A	G	8: 3,515,898 (GRCm39)	V45A	probably benign	Het
Pkhd1	C	A	1: 20,279,484 (GRCm39)	G2945W	probably damaging	Het
Plxnd1	A	G	6: 115,970,589 (GRCm39)	F393S	probably damaging	Het
Ppp3cc	A	G	14: 70,473,938 (GRCm39)	V353A	probably damaging	Het
Prss16	T	A	13: 22,187,205 (GRCm39)	Q455L	probably damaging	Het
Ptpn6	A	T	6: 124,698,171 (GRCm39)	V524E	probably damaging	Het
Rap1gap	A	G	4: 137,443,877 (GRCm39)	Y163C	probably damaging	Het
Rnf31	C	T	14: 55,836,239 (GRCm39)	L598F	probably damaging	Het
Sardh	T	G	2: 27,115,003 (GRCm39)	D550A	probably benign	Het
Serpinc1	T	G	1: 160,827,562 (GRCm39)	I387S	probably damaging	Het
Sh3d19	A	T	3: 86,028,474 (GRCm39)	D650V	probably benign	Het
Sipa1l2	T	A	8: 126,218,750 (GRCm39)	T196S	probably damaging	Het
Slc25a46	T	C	18: 31,716,621 (GRCm39)	T294A	probably benign	Het
Srrm2	T	C	17: 24,034,756 (GRCm39)		probably benign	Het
Steap2	T	A	5: 5,727,612 (GRCm39)	N241I	probably benign	Het
Tcaf3	T	C	6: 42,573,594 (GRCm39)	Y206C	probably damaging	Het
Tmem259	T	A	10: 79,814,297 (GRCm39)	Q322L	probably damaging	Het
Tnni2	C	A	7: 141,997,166 (GRCm39)	Q52K	possibly damaging	Het
Ttn	A	G	2: 76,565,372 (GRCm39)	V28285A	possibly damaging	Het
Uba7	T	A	9: 107,853,352 (GRCm39)	S99R	probably benign	Het
Ubxn2b	A	T	4: 6,216,071 (GRCm39)	K331N	probably damaging	Het
Usp50	G	A	2: 126,611,864 (GRCm39)	T232I	probably damaging	Het
Vmn2r116	G	A	17: 23,604,973 (GRCm39)	M95I	probably benign	Het
Vmn2r116	T	A	17: 23,604,978 (GRCm39)	L97Q	probably damaging	Het
Vmn2r24	A	T	6: 123,763,843 (GRCm39)	N240I	possibly damaging	Het
Vmn2r72	T	C	7: 85,399,901 (GRCm39)	R383G	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
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
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

Posted On

2015-04-16