Mutagenetix > Incidental Mutation

Incidental Mutation 'R6258:Krtcap3'

506462

Institutional Source

Beutler Lab

Gene Symbol

Krtcap3

Ensembl Gene

ENSMUSG00000029149

Gene Name

keratinocyte associated protein 3

Synonyms

2010001C09Rik

MMRRC Submission

044375-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R6258 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31409050-31410541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31409572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 84 (R84W)

Ref Sequence

ENSEMBL: ENSMUSP00000144464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031034] [ENSMUST00000041565] [ENSMUST00000054829] [ENSMUST00000201625] [ENSMUST00000201937] [ENSMUST00000202576] [ENSMUST00000202505]

AlphaFold

Q8K177

Predicted Effect

probably benign
Transcript: ENSMUST00000031034

SMART Domains

Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
low complexity region	27	60	N/A	INTRINSIC
Pfam:Pkinase_Tyr	80	324	5.8e-26	PFAM
Pfam:Pkinase	80	327	1e-26	PFAM
low complexity region	412	436	N/A	INTRINSIC
low complexity region	459	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041565

SMART Domains

Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564

Domain	Start	End	E-Value	Type
WD40	2	44	6e-3	SMART
WD40	55	94	2.22e0	SMART
WD40	102	139	1.23e2	SMART
WD40	141	180	4.6e0	SMART
WD40	186	223	3.3e1	SMART
WD40	225	267	4.42e1	SMART
WD40	279	314	1.03e1	SMART
Blast:WD40	516	550	5e-13	BLAST
low complexity region	573	588	N/A	INTRINSIC
internal_repeat_1	625	1026	1.7e-10	PROSPERO
Blast:TPR	1029	1062	2e-13	BLAST
low complexity region	1077	1091	N/A	INTRINSIC
internal_repeat_1	1101	1498	1.7e-10	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000054829
AA Change: R84W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000060414
Gene: ENSMUSG00000029149
AA Change: R84W

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	211	8.6e-80	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201393

Predicted Effect

probably damaging
Transcript: ENSMUST00000201625
AA Change: R84W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144052
Gene: ENSMUSG00000029149
AA Change: R84W

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	206	1.8e-74	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000201937
AA Change: R84W

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144464
Gene: ENSMUSG00000029149
AA Change: R84W

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	206	1.8e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201697

Predicted Effect

probably benign
Transcript: ENSMUST00000202576

SMART Domains

Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
low complexity region	27	60	N/A	INTRINSIC
Pfam:Pkinase	79	335	1e-24	PFAM
Pfam:Pkinase_Tyr	81	332	6.5e-25	PFAM
low complexity region	420	444	N/A	INTRINSIC
low complexity region	467	484	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201426

Predicted Effect

probably benign
Transcript: ENSMUST00000202505

SMART Domains

Protein: ENSMUSP00000144292
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
STYKc	14	184	1.3e-4	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl3	T	C	7: 82,178,191 (GRCm39)		probably null	Het
Alms1	A	T	6: 85,605,717 (GRCm39)	K2456*	probably null	Het
Alppl2	A	T	1: 87,016,184 (GRCm39)	M225K	probably damaging	Het
AU041133	A	G	10: 81,986,992 (GRCm39)	E215G	probably damaging	Het
Carmil3	T	A	14: 55,737,889 (GRCm39)	L815Q	probably damaging	Het
Casr	A	G	16: 36,337,971 (GRCm39)	C60R	probably damaging	Het
Cdc7	A	G	5: 107,117,093 (GRCm39)	K84E	probably damaging	Het
Cdc73	G	A	1: 143,567,211 (GRCm39)	T104I	probably benign	Het
Clcc1	G	A	3: 108,580,624 (GRCm39)	V313I	possibly damaging	Het
Cntn3	A	G	6: 102,254,178 (GRCm39)		probably null	Het
Crocc2	A	G	1: 93,141,360 (GRCm39)	K1171R	possibly damaging	Het
Ctsa	T	C	2: 164,676,281 (GRCm39)	V86A	probably damaging	Het
Cyp2s1	ACAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAG	7: 25,515,867 (GRCm39)		probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnah17	C	A	11: 118,017,148 (GRCm39)	W197C	probably damaging	Het
Dnah17	A	T	11: 118,017,150 (GRCm39)	W197R	probably damaging	Het
Dnah17	C	T	11: 118,017,149 (GRCm39)	W197*	probably null	Het
Egflam	T	A	15: 7,263,773 (GRCm39)	T726S	probably damaging	Het
Eml2	T	G	7: 18,913,289 (GRCm39)		probably null	Het
Ercc6	T	A	14: 32,279,813 (GRCm39)	D609E	probably benign	Het
Erg	C	A	16: 95,181,100 (GRCm39)	R147L	probably damaging	Het
Faiml	T	C	9: 99,114,513 (GRCm39)	I125M	possibly damaging	Het
Fbxo41	A	T	6: 85,455,537 (GRCm39)	L549H	probably damaging	Het
Fbxw2	A	T	2: 34,702,825 (GRCm39)		probably null	Het
Fgd6	T	A	10: 93,880,161 (GRCm39)	N338K	probably benign	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gm32742	T	A	9: 51,068,862 (GRCm39)	I200F	probably damaging	Het
Gm4924	T	G	10: 82,213,307 (GRCm39)		probably benign	Het
Gm8369	G	A	19: 11,488,973 (GRCm39)	A87T	possibly damaging	Het
H2-M10.1	T	A	17: 36,634,994 (GRCm39)	I304F	unknown	Het
Ighv5-8	A	G	12: 113,618,611 (GRCm39)	T9A	possibly damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jakmip1	G	T	5: 37,299,104 (GRCm39)	E775*	probably null	Het
Klhl40	T	C	9: 121,607,026 (GRCm39)	F62S	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lins1	T	C	7: 66,360,496 (GRCm39)		probably null	Het
Magi3	A	G	3: 103,996,912 (GRCm39)	L211P	probably damaging	Het
Map2k5	T	A	9: 63,124,647 (GRCm39)	I359F	probably benign	Het
Map4k5	C	A	12: 69,878,336 (GRCm39)	R355L	probably benign	Het
Mef2c	T	A	13: 83,801,057 (GRCm39)	D252E	probably damaging	Het
Methig1	T	C	15: 100,251,422 (GRCm39)	V111A	possibly damaging	Het
Mical3	A	T	6: 120,985,991 (GRCm39)	L150Q	probably damaging	Het
Nf1	A	T	11: 79,456,581 (GRCm39)		probably null	Het
Nisch	T	A	14: 30,899,085 (GRCm39)		probably benign	Het
Or4f15	C	T	2: 111,814,396 (GRCm39)	V8I	probably benign	Het
Or5p61	T	C	7: 107,758,181 (GRCm39)	N300D	probably damaging	Het
Pcdhb12	T	C	18: 37,569,892 (GRCm39)	V346A	probably benign	Het
Pde7b	T	C	10: 20,316,546 (GRCm39)	D168G	possibly damaging	Het
Pdzrn4	A	T	15: 92,655,562 (GRCm39)	E485V	probably damaging	Het
Pla2g4a	A	G	1: 149,733,238 (GRCm39)	S504P	probably benign	Het
Plin2	G	T	4: 86,575,526 (GRCm39)	A341D	probably damaging	Het
Psma8	A	G	18: 14,854,324 (GRCm39)	D68G	probably damaging	Het
Rcor3	G	A	1: 191,808,559 (GRCm39)	H207Y	probably benign	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Ryr3	A	G	2: 112,490,449 (GRCm39)	F3795S	probably damaging	Het
Samm50	C	G	15: 84,084,512 (GRCm39)	P150A	probably damaging	Het
Samm50	C	A	15: 84,084,513 (GRCm39)	P150H	probably damaging	Het
Slc28a2b	A	T	2: 122,353,963 (GRCm39)	I530F	probably damaging	Het
Slc6a18	A	T	13: 73,818,164 (GRCm39)	C284*	probably null	Het
Smc3	T	A	19: 53,616,162 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,060,343 (GRCm39)	G529D	possibly damaging	Het
Sord	T	A	2: 122,089,613 (GRCm39)		probably null	Het
Spdl1	T	A	11: 34,710,713 (GRCm39)	N345I	probably damaging	Het
Sucnr1	T	C	3: 59,993,778 (GRCm39)	L102P	probably damaging	Het
Tbc1d9	T	C	8: 83,937,145 (GRCm39)	W76R	probably damaging	Het
Tcerg1	T	A	18: 42,686,530 (GRCm39)	Y696N	probably damaging	Het
Thsd7b	A	G	1: 129,595,655 (GRCm39)	T492A	probably benign	Het
Trdmt1	T	A	2: 13,524,870 (GRCm39)	Q195L	probably benign	Het
Ubr3	A	G	2: 69,813,208 (GRCm39)		probably null	Het
Ung	A	T	5: 114,275,361 (GRCm39)	Y250F	probably benign	Het
Vezf1	A	G	11: 87,972,326 (GRCm39)	N229S	probably damaging	Het
Wdfy3	C	T	5: 102,020,831 (GRCm39)	R2491Q	possibly damaging	Het
Wdr97	C	A	15: 76,239,895 (GRCm39)	S277*	probably null	Het
Zfp1007	T	C	5: 109,824,433 (GRCm39)	H339R	probably benign	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het
Zscan4-ps1	C	A	7: 10,799,829 (GRCm39)	E353D	probably benign	Het

Other mutations in Krtcap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01503:Krtcap3	APN	5	31,409,167 (GRCm39)	critical splice donor site	probably benign	0.00
IGL02172:Krtcap3	APN	5	31,409,397 (GRCm39)	missense	probably damaging	1.00
R0021:Krtcap3	UTSW	5	31,410,303 (GRCm39)	missense	probably benign	0.00
R0021:Krtcap3	UTSW	5	31,410,303 (GRCm39)	missense	probably benign	0.00
R0553:Krtcap3	UTSW	5	31,409,147 (GRCm39)	missense	probably benign	0.00
R7418:Krtcap3	UTSW	5	31,409,881 (GRCm39)	missense	probably benign	0.45
R7655:Krtcap3	UTSW	5	31,409,904 (GRCm39)	missense	probably damaging	1.00
R7656:Krtcap3	UTSW	5	31,409,904 (GRCm39)	missense	probably damaging	1.00
R7954:Krtcap3	UTSW	5	31,410,015 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGTACTGTTCTGCGGCAC -3'
(R):5'- CAGCAGACAAGAGCAGGTTC -3'

Sequencing Primer
(F):5'- GCGGTCACTCCTGAGTACAC -3'
(R):5'- AGAGCAGGTTCACCAAGGCC -3'

Posted On

2018-03-15