Mutagenetix > Incidental Mutation

Incidental Mutation 'R9299:Krtap5-3'

704795

Institutional Source

Beutler Lab

Gene Symbol

Krtap5-3

Ensembl Gene

ENSMUSG00000046248

Gene Name

keratin associated protein 5-3

Synonyms

A030007E19Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R9299 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141755101-141756752 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141756267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 175 (H175Q)

Ref Sequence

ENSEMBL: ENSMUSP00000081451 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084414] [ENSMUST00000187512]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000084414
AA Change: H175Q

SMART Domains

Protein: ENSMUSP00000081451
Gene: ENSMUSG00000046248
AA Change: H175Q

Domain	Start	End	E-Value	Type
low complexity region	2	126	N/A	INTRINSIC
low complexity region	127	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187512

SMART Domains

Protein: ENSMUSP00000141116
Gene: ENSMUSG00000046248

Domain	Start	End	E-Value	Type
low complexity region	2	356	N/A	INTRINSIC

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	G	T	9: 57,163,792 (GRCm39)	R861S	possibly damaging	Het
Abca12	T	A	1: 71,359,042 (GRCm39)	N588I	possibly damaging	Het
Adamts9	A	G	6: 92,773,976 (GRCm39)	Y1727H	probably benign	Het
Ahnak	G	A	19: 8,989,824 (GRCm39)		probably benign	Het
Alad	C	T	4: 62,429,760 (GRCm39)		probably null	Het
Anapc15-ps	C	A	10: 95,509,077 (GRCm39)	D68Y	probably damaging	Het
Arhgap45	T	C	10: 79,862,565 (GRCm39)	S645P	possibly damaging	Het
Atp9a	A	T	2: 168,554,666 (GRCm39)	M1K	probably null	Het
B020004C17Rik	A	T	14: 57,254,230 (GRCm39)	I118F	probably damaging	Het
Capn13	T	A	17: 73,633,467 (GRCm39)		probably null	Het
Ccdc7a	T	C	8: 129,616,319 (GRCm39)	Q928R	probably benign	Het
Cdc42bpa	C	A	1: 179,972,073 (GRCm39)	L1292I	probably damaging	Het
Clec2e	A	C	6: 129,072,092 (GRCm39)	F96V	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cnot1	T	C	8: 96,468,448 (GRCm39)	I1460M	probably damaging	Het
Cyc1	T	C	15: 76,228,506 (GRCm39)	V45A	probably benign	Het
Cyp4a10	A	G	4: 115,376,947 (GRCm39)	M104V	probably benign	Het
Cyth1	C	T	11: 118,059,837 (GRCm39)		probably benign	Het
Dnhd1	T	A	7: 105,369,806 (GRCm39)	N4410K	probably benign	Het
Dok4	T	A	8: 95,593,469 (GRCm39)	T106S	probably benign	Het
Dpcd	C	A	19: 45,566,009 (GRCm39)	Q203K	probably damaging	Het
Dph1	T	A	11: 75,070,622 (GRCm39)	Q339L	possibly damaging	Het
Dpy19l3	G	T	7: 35,424,752 (GRCm39)	S187*	probably null	Het
Eva1a	G	T	6: 82,069,047 (GRCm39)	A125S	probably damaging	Het
Fam24b	T	A	7: 130,927,949 (GRCm39)	Y80F	probably benign	Het
Frem2	T	C	3: 53,563,980 (GRCm39)	T176A	probably benign	Het
Gal3st3	A	T	19: 5,356,868 (GRCm39)	N81I	probably damaging	Het
Gm12888	G	A	4: 121,182,044 (GRCm39)	S16F	unknown	Het
Hsf5	T	A	11: 87,526,770 (GRCm39)	C481S	probably benign	Het
Ifi211	T	A	1: 173,735,288 (GRCm39)	Q47L	probably damaging	Het
Il17re	A	T	6: 113,440,971 (GRCm39)	M202L	probably benign	Het
Ksr2	G	A	5: 117,885,399 (GRCm39)		probably null	Het
Lrtm1	C	T	14: 28,743,714 (GRCm39)	P61S	probably damaging	Het
Ltk	A	T	2: 119,584,721 (GRCm39)	S487R	possibly damaging	Het
Mis18bp1	A	T	12: 65,185,538 (GRCm39)	D876E	possibly damaging	Het
Nalf1	T	C	8: 9,820,156 (GRCm39)	Y288C	probably damaging	Het
Or8b39	A	G	9: 37,996,785 (GRCm39)	T218A	probably benign	Het
Paqr7	A	G	4: 134,234,311 (GRCm39)	N56S	probably benign	Het
Pcdhb22	G	T	18: 37,651,885 (GRCm39)	E118*	probably null	Het
Pcdhb4	G	A	18: 37,442,264 (GRCm39)	A525T	probably benign	Het
Pik3cb	A	G	9: 98,943,844 (GRCm39)	F653S	probably damaging	Het
Pla2g4e	T	A	2: 120,002,204 (GRCm39)	D617V	probably damaging	Het
Plekha1	T	A	7: 130,511,348 (GRCm39)	C311S	possibly damaging	Het
Poteg	A	G	8: 27,940,287 (GRCm39)	Y156C	probably benign	Het
Rev3l	T	C	10: 39,723,999 (GRCm39)	S2644P	probably damaging	Het
Rnf40	T	A	7: 127,188,172 (GRCm39)	S2T	probably benign	Het
Rrp8	T	C	7: 105,383,384 (GRCm39)	D294G	probably damaging	Het
Slc6a21	T	C	7: 44,937,130 (GRCm39)	V252A		Het
Slx9	C	A	10: 77,351,535 (GRCm39)	A14S	possibly damaging	Het
Socs1	T	C	16: 10,602,578 (GRCm39)	D53G	possibly damaging	Het
St6galnac6	G	T	2: 32,502,345 (GRCm39)	R78L	probably benign	Het
Tbce	T	C	13: 14,194,398 (GRCm39)	K87R	probably benign	Het
Tep1	T	C	14: 51,081,988 (GRCm39)		probably benign	Het
Thada	T	C	17: 84,749,205 (GRCm39)	M589V	probably benign	Het
Thsd7a	A	G	6: 12,504,131 (GRCm39)	F341S		Het
Tmem82	A	T	4: 141,343,861 (GRCm39)	C136*	probably null	Het
Tmprss11a	A	T	5: 86,570,361 (GRCm39)	C199*	probably null	Het
Zbtb48	T	C	4: 152,105,147 (GRCm39)	N505S	possibly damaging	Het
Zfp385b	A	T	2: 77,246,115 (GRCm39)	V304E	probably damaging	Het

Other mutations in Krtap5-3

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00328:Krtap5-3	APN	7	141,755,612 (GRCm39)	intron	probably benign
IGL00341:Krtap5-3	APN	7	141,755,612 (GRCm39)	intron	probably benign
IGL02170:Krtap5-3	APN	7	141,756,215 (GRCm39)	missense	unknown
IGL03137:Krtap5-3	APN	7	141,755,946 (GRCm39)	intron	probably benign
R1888:Krtap5-3	UTSW	7	141,755,979 (GRCm39)	intron	probably benign
R1888:Krtap5-3	UTSW	7	141,755,979 (GRCm39)	intron	probably benign
R5215:Krtap5-3	UTSW	7	141,755,974 (GRCm39)	nonsense	probably null
R6081:Krtap5-3	UTSW	7	141,755,223 (GRCm39)	missense	unknown
R6529:Krtap5-3	UTSW	7	141,756,079 (GRCm39)	nonsense	probably null
R7102:Krtap5-3	UTSW	7	141,755,992 (GRCm39)	nonsense	probably null
R7528:Krtap5-3	UTSW	7	141,755,219 (GRCm39)	missense	unknown
R7531:Krtap5-3	UTSW	7	141,755,942 (GRCm39)	missense	unknown
R8270:Krtap5-3	UTSW	7	141,755,693 (GRCm39)	missense	unknown
R8331:Krtap5-3	UTSW	7	141,755,563 (GRCm39)	nonsense	probably null
R8552:Krtap5-3	UTSW	7	141,756,089 (GRCm39)	intron	probably benign
R8998:Krtap5-3	UTSW	7	141,755,933 (GRCm39)	missense	unknown
R9337:Krtap5-3	UTSW	7	141,756,267 (GRCm39)	missense	unknown
R9484:Krtap5-3	UTSW	7	141,756,068 (GRCm39)	missense	unknown
Z1177:Krtap5-3	UTSW	7	141,755,790 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCAAGGGAGGCTGTAGTTC -3'
(R):5'- TCCTCTATTGCCTGACAAATGGATG -3'

Sequencing Primer
(F):5'- CAAGGGAGGCTGTAGTTCCTGTG -3'
(R):5'- GTCCAGCTTTGTAGATCAAGGAAAC -3'

Posted On

2022-03-25