Mutagenetix > Incidental Mutation

Incidental Mutation 'R5189:Kap'

405055

Institutional Source

Beutler Lab

Gene Symbol

Kap

Ensembl Gene

ENSMUSG00000032758

Gene Name

kidney androgen regulated protein

Synonyms

kidney androgen-regulated protein

MMRRC Submission

042767-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5189 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133826818-133830630 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 133828879 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048032] [ENSMUST00000203168]

AlphaFold

P61110

Predicted Effect

probably null
Transcript: ENSMUST00000048032

SMART Domains

Protein: ENSMUSP00000041060
Gene: ENSMUSG00000032758

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:KAR	19	121	2.6e-63	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000203168

SMART Domains

Protein: ENSMUSP00000145449
Gene: ENSMUSG00000032758

Domain	Start	End	E-Value	Type
Pfam:KAR	14	104	7.4e-45	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	C	T	12: 71,240,123 (GRCm39)	T1311I	possibly damaging	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4930505A04Rik	T	C	11: 30,376,169 (GRCm39)	T233A	probably damaging	Het
Ankar	T	C	1: 72,697,573 (GRCm39)	I859V	probably benign	Het
Cacnb2	G	T	2: 14,990,849 (GRCm39)	A644S	possibly damaging	Het
Gatb	T	C	3: 85,544,238 (GRCm39)	V402A	probably benign	Het
Gpcpd1	T	C	2: 132,395,892 (GRCm39)	K153R	probably damaging	Het
Hip1	A	G	5: 135,463,147 (GRCm39)	L60S	probably damaging	Het
Hsf4	GCAGCACCGGGTCA	G	8: 105,998,060 (GRCm39)		probably null	Het
Hydin	A	T	8: 111,139,843 (GRCm39)		probably null	Het
Igsf3	A	T	3: 101,338,843 (GRCm39)	T386S	possibly damaging	Het
Il12rb1	A	G	8: 71,263,702 (GRCm39)	T88A	possibly damaging	Het
Kank1	T	C	19: 25,401,545 (GRCm39)	S1051P	probably damaging	Het
Ly96	A	G	1: 16,771,091 (GRCm39)	E74G	probably damaging	Het
Map7d1	G	T	4: 126,136,097 (GRCm39)		probably null	Het
Megf6	G	T	4: 154,336,980 (GRCm39)	R253L	probably benign	Het
Mex3b	A	G	7: 82,518,459 (GRCm39)	D258G	probably damaging	Het
Mpzl3	T	C	9: 44,973,408 (GRCm39)	I49T	possibly damaging	Het
Myh15	C	A	16: 48,921,870 (GRCm39)	T472N	probably benign	Het
Nacad	A	G	11: 6,551,611 (GRCm39)	S527P	probably damaging	Het
Nkx2-3	T	G	19: 43,601,147 (GRCm39)	S70A	probably benign	Het
Nkx2-6	A	T	14: 69,409,342 (GRCm39)	Q31L	probably benign	Het
Or6ae1	A	G	7: 139,742,632 (GRCm39)	V77A	probably damaging	Het
Pcdha6	A	T	18: 37,101,844 (GRCm39)	N346Y	probably damaging	Het
Pkd2	G	A	5: 104,607,785 (GRCm39)	D95N	probably benign	Het
Pkhd1l1	A	G	15: 44,410,544 (GRCm39)	T2684A	probably damaging	Het
Plin2	A	G	4: 86,575,383 (GRCm39)	Y389H	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc41a2	T	C	10: 83,149,275 (GRCm39)		probably null	Het
Smg6	A	G	11: 74,932,822 (GRCm39)	T1038A	probably damaging	Het
Suds3	T	C	5: 117,238,664 (GRCm39)		probably benign	Het
Tbc1d8	T	C	1: 39,424,213 (GRCm39)	H626R	probably benign	Het
Tmem260	T	A	14: 48,746,573 (GRCm39)	H616Q	probably benign	Het
Trip10	A	T	17: 57,568,288 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubr4	A	G	4: 139,137,960 (GRCm39)	T1106A	probably benign	Het
Vmn1r84	A	T	7: 12,096,385 (GRCm39)	S103T	probably benign	Het
Vps13a	G	T	19: 16,662,679 (GRCm39)	P1602Q	probably damaging	Het

Other mutations in Kap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02828:Kap	APN	6	133,829,057 (GRCm39)	missense	probably benign	0.01
IGL03242:Kap	APN	6	133,828,763 (GRCm39)	splice site	probably benign
R2852:Kap	UTSW	6	133,827,057 (GRCm39)	missense	probably benign	0.00
R5714:Kap	UTSW	6	133,828,956 (GRCm39)	missense	probably benign	0.09
R6383:Kap	UTSW	6	133,828,920 (GRCm39)	missense	probably benign	0.00
R7664:Kap	UTSW	6	133,828,920 (GRCm39)	missense	probably benign	0.00
R7721:Kap	UTSW	6	133,828,690 (GRCm39)	critical splice donor site	probably null
R8922:Kap	UTSW	6	133,827,054 (GRCm39)	missense	probably benign	0.00
R8987:Kap	UTSW	6	133,830,689 (GRCm39)	unclassified	probably benign
R9439:Kap	UTSW	6	133,828,950 (GRCm39)	missense	probably benign	0.03
R9779:Kap	UTSW	6	133,829,006 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCTTCCAGAAAGCCGGAGG -3'
(R):5'- GTAGACTCAACAAAATCTCTTCCAG -3'

Sequencing Primer
(F):5'- GAGACTGTCTCAACATCAGTAGAG -3'
(R):5'- TAACCTAATAGACCCTCCCAGTG -3'

Posted On

2016-07-22