Mutagenetix > Incidental Mutation

Incidental Mutation 'R4905:Kri1'

378108

Institutional Source

Beutler Lab

Gene Symbol

Kri1

Ensembl Gene

ENSMUSG00000035047

Gene Name

KRI1 homolog

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4905 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

21184753-21199265 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21198998 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 55 (H55Q)

Ref Sequence

ENSEMBL: ENSMUSP00000039688 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038671] [ENSMUST00000086374] [ENSMUST00000184326] [ENSMUST00000215619] [ENSMUST00000213407]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038671
AA Change: H55Q

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000039688
Gene: ENSMUSG00000035047
AA Change: H55Q

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: ENSMUST00000086374

SMART Domains

Protein: ENSMUSP00000083561
Gene: ENSMUSG00000096472

Domain	Start	End	E-Value	Type
ANK	41	69	1.01e2	SMART
ANK	73	102	1.73e-4	SMART
ANK	106	134	8.89e1	SMART
Blast:ANK	138	166	1e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183503

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183912

Predicted Effect

probably benign
Transcript: ENSMUST00000184326

SMART Domains

Protein: ENSMUSP00000139184
Gene: ENSMUSG00000035047

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

probably benign
Transcript: ENSMUST00000215619

Predicted Effect

probably benign
Transcript: ENSMUST00000213407

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,448,680 (GRCm39)		probably null	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abcc5	A	G	16: 20,218,678 (GRCm39)	S235P	probably damaging	Het
Abcc6	T	C	7: 45,644,649 (GRCm39)	N842S	probably benign	Het
Acbd6	G	A	1: 155,500,669 (GRCm39)	V210I	probably benign	Het
Ahctf1	A	T	1: 179,576,192 (GRCm39)	V2130D	probably damaging	Het
Akap5	A	G	12: 76,375,207 (GRCm39)	E213G	probably damaging	Het
Alyref	T	G	11: 120,486,879 (GRCm39)		probably null	Het
Anapc5	G	T	5: 122,955,973 (GRCm39)	N152K	probably benign	Het
Atp8b2	A	T	3: 89,856,315 (GRCm39)	D416E	probably benign	Het
AW551984	A	T	9: 39,508,454 (GRCm39)	V354E	probably damaging	Het
Bag6	A	G	17: 35,364,162 (GRCm39)	E844G	probably damaging	Het
Bmp1	C	T	14: 70,728,802 (GRCm39)	R590H	probably benign	Het
Ccnh	T	C	13: 85,354,254 (GRCm39)	S233P	possibly damaging	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,312,205 (GRCm39)		probably benign	Het
Col6a6	A	G	9: 105,644,623 (GRCm39)	S1222P	probably damaging	Het
Dhfr	G	A	13: 92,502,282 (GRCm39)	G118S	probably damaging	Het
Dnah9	G	A	11: 65,764,950 (GRCm39)	R1414*	probably null	Het
Dnai1	A	G	4: 41,614,269 (GRCm39)	D315G	probably benign	Het
Eogt	T	C	6: 97,119,792 (GRCm39)	R139G	probably benign	Het
Fcgbpl1	A	T	7: 27,856,408 (GRCm39)	K2065M	possibly damaging	Het
Fh1	C	T	1: 175,446,639 (GRCm39)	G79E	probably damaging	Het
Gabrg3	A	G	7: 56,374,304 (GRCm39)	Y421H	probably damaging	Het
Glipr1	C	A	10: 111,821,545 (GRCm39)	R219L	probably damaging	Het
Gm1123	T	C	9: 98,891,369 (GRCm39)	D360G	probably benign	Het
Ift81	C	T	5: 122,729,142 (GRCm39)		probably null	Het
Itsn2	A	G	12: 4,684,583 (GRCm39)		probably benign	Het
Mcidas	C	A	13: 113,130,951 (GRCm39)	A92E	possibly damaging	Het
Mcidas	C	T	13: 113,134,038 (GRCm39)	T174M	possibly damaging	Het
Mmp25	C	A	17: 23,863,022 (GRCm39)	G130*	probably null	Het
Myh11	G	A	16: 14,068,387 (GRCm39)	T211M	probably benign	Het
Myo10	A	G	15: 25,800,298 (GRCm39)	D1458G	probably damaging	Het
Ncf4	A	G	15: 78,139,104 (GRCm39)	T154A	probably damaging	Het
Nfatc4	T	C	14: 56,068,039 (GRCm39)	I620T	probably benign	Het
Nos3	A	T	5: 24,572,329 (GRCm39)	Y134F	probably benign	Het
Nup50l	T	A	6: 96,142,911 (GRCm39)	R44S	possibly damaging	Het
Or13c3	T	C	4: 52,855,613 (GRCm39)	N300S	probably damaging	Het
Or51a6	A	T	7: 102,604,721 (GRCm39)	I36N	probably damaging	Het
Or5b106	C	A	19: 13,123,541 (GRCm39)	A161S	probably benign	Het
Or6c209	T	A	10: 129,483,792 (GRCm39)	V265E	possibly damaging	Het
Pax9	G	T	12: 56,743,411 (GRCm39)	R19S	probably damaging	Het
Pcdha9	T	C	18: 37,131,945 (GRCm39)	I338T	probably damaging	Het
Plxnb2	G	T	15: 89,041,614 (GRCm39)	T1730K	probably damaging	Het
Rac1	A	G	5: 143,502,907 (GRCm39)		probably null	Het
Samsn1	G	T	16: 75,673,353 (GRCm39)	F174L	possibly damaging	Het
Scaf1	G	A	7: 44,662,129 (GRCm39)	T86M	probably damaging	Het
Smc1b	A	G	15: 84,950,428 (GRCm39)	Y1199H	probably damaging	Het
Svep1	A	G	4: 58,069,308 (GRCm39)	I2826T	probably benign	Het
Tex36	A	G	7: 133,189,182 (GRCm39)	V130A	probably damaging	Het
Tigd5	A	G	15: 75,783,252 (GRCm39)	H538R	probably damaging	Het
Tlr3	C	A	8: 45,852,260 (GRCm39)		probably null	Het
Tubb2b	A	T	13: 34,312,187 (GRCm39)	I202N	probably damaging	Het
Unc13c	A	G	9: 73,587,674 (GRCm39)	V1453A	probably benign	Het
Unc5c	A	T	3: 141,507,071 (GRCm39)	T608S	probably benign	Het
Vrk1	C	A	12: 106,018,087 (GRCm39)	H119N	probably damaging	Het
Wdr53	T	A	16: 32,075,476 (GRCm39)	M227K	probably benign	Het
Xpo4	T	C	14: 57,875,746 (GRCm39)	D129G	possibly damaging	Het
Zcchc4	T	C	5: 52,953,992 (GRCm39)	I224T	probably damaging	Het
Zdhhc1	T	A	8: 106,210,326 (GRCm39)	E30D	probably damaging	Het
Zscan29	C	G	2: 120,991,864 (GRCm39)	R540T	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
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
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'- GCTTGGAGTCTCTTCCAGAAAG -3'
(R):5'- TGCCTAAAGGTGAACGCAGC -3'

Sequencing Primer
(F):5'- AAGGAGGATGTATTTGGCGATCCC -3'
(R):5'- TTTGCTGCGCGCTACAG -3'

Posted On

2016-04-15