Mutagenetix > Incidental Mutation

Incidental Mutation 'R0553:Krtcap3'

45278

Institutional Source

Beutler Lab

Gene Symbol

Krtcap3

Ensembl Gene

ENSMUSG00000029149

Gene Name

keratinocyte associated protein 3

Synonyms

2010001C09Rik

MMRRC Submission

038745-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

R0553 (G1)

Quality Score

158

Status

Validated

Chromosome

Chromosomal Location

31409050-31410541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31409147 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 6 (V6A)

Gene Model

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

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 benign
Transcript: ENSMUST00000054829
AA Change: V6A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000060414
Gene: ENSMUSG00000029149
AA Change: V6A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000114570
AA Change: V6A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110217
Gene: ENSMUSG00000029149
AA Change: V6A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201333

Predicted Effect

probably benign
Transcript: ENSMUST00000201625
AA Change: V6A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144052
Gene: ENSMUSG00000029149
AA Change: V6A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000201937
AA Change: V6A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144464
Gene: ENSMUSG00000029149
AA Change: V6A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201426

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201393

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202982

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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	A	T	4: 122,596,128 (GRCm39)	M120L	unknown	Het
Aadacl4fm5	T	A	4: 144,503,985 (GRCm39)	I389L	possibly damaging	Het
Adamts13	T	A	2: 26,881,346 (GRCm39)	C774*	probably null	Het
Amh	A	G	10: 80,642,010 (GRCm39)		probably benign	Het
Armh4	T	C	14: 49,920,143 (GRCm39)	I729V	probably damaging	Het
Cd40	G	A	2: 164,912,661 (GRCm39)	R204Q	probably benign	Het
Cfap210	C	A	2: 69,619,785 (GRCm39)	R8L	probably damaging	Het
Clhc1	A	C	11: 29,511,366 (GRCm39)		probably benign	Het
Fbxl17	G	A	17: 63,663,846 (GRCm39)	R67C	probably damaging	Het
Flg2	A	T	3: 93,110,891 (GRCm39)	H973L	unknown	Het
Fut2	T	A	7: 45,300,698 (GRCm39)	I25F	probably damaging	Het
Galnt7	T	C	8: 58,005,464 (GRCm39)		probably benign	Het
Gmppb	A	T	9: 107,926,996 (GRCm39)	M56L	probably benign	Het
Grm3	C	A	5: 9,620,048 (GRCm39)	A399S	probably benign	Het
H2-T5	G	T	17: 36,478,949 (GRCm39)	P100Q	probably damaging	Het
Hey2	G	A	10: 30,716,485 (GRCm39)		probably benign	Het
Ift172	A	G	5: 31,433,186 (GRCm39)		probably benign	Het
Kcnh5	C	A	12: 75,184,447 (GRCm39)	C92F	probably benign	Het
Kdm1a	T	C	4: 136,282,609 (GRCm39)	D229G	probably damaging	Het
Klf11	C	G	12: 24,705,089 (GRCm39)	P164R	probably benign	Het
Klhl41	G	A	2: 69,500,554 (GRCm39)	R5Q	probably benign	Het
Ltbr	A	C	6: 125,290,351 (GRCm39)		probably null	Het
Mmp17	T	G	5: 129,675,734 (GRCm39)	S298A	probably benign	Het
Nacc2	T	A	2: 25,979,602 (GRCm39)	E278V	possibly damaging	Het
Or5k8	A	T	16: 58,644,518 (GRCm39)	Y185N	probably damaging	Het
Or8b12b	T	A	9: 37,684,627 (GRCm39)	I224N	probably benign	Het
Otop2	C	T	11: 115,220,288 (GRCm39)	A376V	probably damaging	Het
Pdia2	T	C	17: 26,415,217 (GRCm39)	E504G	probably damaging	Het
Pdzph1	C	T	17: 59,229,722 (GRCm39)	V979M	probably damaging	Het
Pou5f1	A	G	17: 35,820,374 (GRCm39)	K86R	possibly damaging	Het
Ptprq	A	G	10: 107,546,488 (GRCm39)	F269L	probably benign	Het
Rb1	A	T	14: 73,449,152 (GRCm39)	C659*	probably null	Het
Rnf8	T	C	17: 29,840,613 (GRCm39)		probably null	Het
Rras	T	G	7: 44,669,980 (GRCm39)	I137M	probably benign	Het
Slc38a9	A	T	13: 112,850,732 (GRCm39)	H372L	probably damaging	Het
Spata9	T	C	13: 76,125,898 (GRCm39)		probably null	Het
Tas2r115	T	C	6: 132,714,922 (GRCm39)	T10A	probably benign	Het
Ttn	T	C	2: 76,629,237 (GRCm39)	E12621G	probably damaging	Het
Unc80	A	T	1: 66,545,828 (GRCm39)	I460F	probably damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Zbtb24	C	T	10: 41,327,993 (GRCm39)	A293V	possibly damaging	Het
Zpld2	T	C	4: 133,929,829 (GRCm39)	T159A	possibly damaging	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
R6258:Krtcap3	UTSW	5	31,409,572 (GRCm39)	missense	probably damaging	0.99
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'- GGGAAGCTGAGTTCTACAATCCCG -3'
(R):5'- CACAGAAATGACATTGGCTGTGGTG -3'

Sequencing Primer
(F):5'- CCTCAGTTGCTGCTGTAATAAAGTC -3'
(R):5'- GTGTACTCAGGAGTGACCG -3'

Posted On

2013-06-11