Mutagenetix > Incidental Mutation

Incidental Mutation 'R0054:Kri1'

16925

Institutional Source

Beutler Lab

Gene Symbol

Kri1

Ensembl Gene

ENSMUSG00000035047

Gene Name

KRI1 homolog

Synonyms

MMRRC Submission

038348-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0054 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

21184753-21199265 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21186661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 447 (S447L)

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 damaging
Transcript: ENSMUST00000038671
AA Change: S565L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000039688
Gene: ENSMUSG00000035047
AA Change: S565L

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: S447L

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

SMART Domains

Protein: ENSMUSP00000139184
Gene: ENSMUSG00000035047
AA Change: S447L

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

Meta Mutation Damage Score

0.4978

Coding Region Coverage

1x: 88.8%
3x: 85.6%
10x: 76.3%
20x: 59.9%

Validation Efficiency

96% (91/95)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,547,500 (GRCm39)		probably null	Het
Apoa4	A	G	9: 46,153,822 (GRCm39)	D141G	probably benign	Het
Atg9a	T	C	1: 75,161,143 (GRCm39)	Y701C	probably damaging	Het
Baz2b	C	T	2: 59,762,510 (GRCm39)	R922Q	probably damaging	Het
Bmal2	T	G	6: 146,731,216 (GRCm39)	V507G	probably benign	Het
Brms1	T	A	19: 5,096,727 (GRCm39)	C136*	probably null	Het
Ccdc180	T	A	4: 45,890,900 (GRCm39)	V24E	probably benign	Het
Clec4f	C	T	6: 83,629,911 (GRCm39)	V216M	probably benign	Het
Cpd	C	G	11: 76,681,664 (GRCm39)	G1160R	probably damaging	Het
Creb5	A	G	6: 53,424,642 (GRCm39)	M128V	probably benign	Het
Ddb2	G	T	2: 91,065,165 (GRCm39)	Q87K	probably benign	Het
Defb41	A	G	1: 18,321,471 (GRCm39)	Y48H	probably damaging	Het
Dido1	T	C	2: 180,303,267 (GRCm39)	N1546D	probably benign	Het
Dmac1	A	G	4: 75,196,337 (GRCm39)	V51A	possibly damaging	Het
Dnajb11	C	T	16: 22,681,369 (GRCm39)	A49V	probably damaging	Het
Dnajc14	G	A	10: 128,643,448 (GRCm39)	D457N	probably damaging	Het
Eif3a	C	A	19: 60,755,264 (GRCm39)	D973Y	unknown	Het
Farsb	T	A	1: 78,439,011 (GRCm39)	K395*	probably null	Het
Fem1b	A	G	9: 62,704,082 (GRCm39)	S393P	probably damaging	Het
Fsip2	A	C	2: 82,817,299 (GRCm39)	N4344T	possibly damaging	Het
Gphn	A	G	12: 78,684,277 (GRCm39)	S558G	probably damaging	Het
Gpr142	C	A	11: 114,689,755 (GRCm39)	H2Q	probably benign	Het
Grhpr	T	C	4: 44,988,915 (GRCm39)		probably benign	Het
Grik3	C	A	4: 125,517,368 (GRCm39)	N70K	probably damaging	Het
Gsap	T	A	5: 21,455,933 (GRCm39)		probably benign	Het
Iars1	T	A	13: 49,846,611 (GRCm39)	C237S	probably damaging	Het
Ighv1-9	A	T	12: 114,547,602 (GRCm39)	F7L	probably benign	Het
Ints8	A	G	4: 11,204,595 (GRCm39)		probably benign	Het
Kcnj16	G	T	11: 110,915,549 (GRCm39)	W70C	probably damaging	Het
Kpna6	T	C	4: 129,551,251 (GRCm39)	M85V	probably benign	Het
Lrp1b	A	G	2: 40,632,829 (GRCm39)	V3528A	probably benign	Het
Lrrc46	A	T	11: 96,929,605 (GRCm39)	L77Q	probably damaging	Het
Mrpl44	T	C	1: 79,757,212 (GRCm39)	L219S	probably damaging	Het
Ms4a14	T	C	19: 11,281,303 (GRCm39)	I418M	probably benign	Het
Myo7a	T	C	7: 97,714,905 (GRCm39)	D112G	probably damaging	Het
Ncoa3	A	G	2: 165,897,098 (GRCm39)	T630A	possibly damaging	Het
Nsl1	T	C	1: 190,814,381 (GRCm39)	L194P	probably damaging	Het
Or5ac23	T	C	16: 59,149,428 (GRCm39)	Y148C	possibly damaging	Het
Or8u10	T	C	2: 85,915,705 (GRCm39)	K139E	probably benign	Het
Pde4d	A	G	13: 109,876,955 (GRCm39)	S159G	probably benign	Het
Pi4ka	T	C	16: 17,142,978 (GRCm39)	R845G	probably null	Het
Pld1	A	G	3: 28,150,033 (GRCm39)		probably benign	Het
Psd	T	A	19: 46,311,781 (GRCm39)	I300F	probably damaging	Het
Ptprz1	T	A	6: 22,986,195 (GRCm39)	W332R	probably damaging	Het
Rnf212	T	A	5: 108,893,530 (GRCm39)	M70L	possibly damaging	Het
Sema4f	A	G	6: 82,896,674 (GRCm39)		probably benign	Het
Sez6	C	A	11: 77,844,699 (GRCm39)	T7K	possibly damaging	Het
Skint2	T	C	4: 112,502,660 (GRCm39)	I290T	probably benign	Het
Slc5a3	T	A	16: 91,874,522 (GRCm39)	I193N	probably damaging	Het
Snip1	T	A	4: 124,966,633 (GRCm39)	Y354*	probably null	Het
Tmco5	A	G	2: 116,717,768 (GRCm39)	Y200C	probably damaging	Het
Tmem87b	T	A	2: 128,673,361 (GRCm39)		probably benign	Het
Trim60	T	C	8: 65,453,973 (GRCm39)	E92G	probably benign	Het
Ttn	A	T	2: 76,626,804 (GRCm39)	D13067E	possibly damaging	Het
Ufl1	A	T	4: 25,269,087 (GRCm39)	I168N	probably damaging	Het
Zfp385c	G	A	11: 100,520,782 (GRCm39)	P293S	probably benign	Het
Zfp473	T	A	7: 44,383,899 (GRCm39)	S144C	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
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

2013-01-20