Mutagenetix > Incidental Mutations

Incidental Mutation 'RF017:Krtap4-9'

603634

Institutional Source

Beutler Lab

Gene Symbol

Krtap4-9

Ensembl Gene

ENSMUSG00000078262

Gene Name

keratin associated protein 4-9

Synonyms

OTTMUSG00000002198

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

RF017 (G1)

Quality Score

104.467

Status

Not validated

Chromosome

Chromosomal Location

99785200-99786258 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

TGCTGTGTGTCCAGCTGCTGCAG to TGCTGTGTGTCCAGCTGCTGCAGGCCCAGCGGCTGTGTGTCCAGCTGCTGCAG at 99785399 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105059] [ENSMUST00000107439]

Predicted Effect

probably benign
Transcript: ENSMUST00000105059

SMART Domains

Protein: ENSMUSP00000100680
Gene: ENSMUSG00000078262

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	47	1.2e-8	PFAM
Pfam:Keratin_B2_2	14	58	4.4e-13	PFAM
Pfam:Keratin_B2_2	54	102	3e-10	PFAM
Pfam:Keratin_B2_2	87	132	8.4e-12	PFAM
Pfam:Keratin_B2_2	98	147	3.4e-9	PFAM
Pfam:Keratin_B2_2	138	182	3.1e-12	PFAM
Pfam:Keratin_B2_2	178	222	4.8e-12	PFAM
Pfam:Keratin_B2_2	203	244	4.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107439

SMART Domains

Protein: ENSMUSP00000103063
Gene: ENSMUSG00000089724

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	14	58	1.8e-13	PFAM
Pfam:Keratin_B2_2	54	98	6.7e-15	PFAM
Pfam:Keratin_B2_2	94	138	9.5e-15	PFAM
Pfam:Keratin_B2_2	138	182	1.5e-12	PFAM
Pfam:Keratin_B2_2	168	209	8.2e-9	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	AA	AACTGTCA	10: 82,290,992		probably benign	Het
Ahdc1	ACCACC	ACCACCACC	4: 133,062,751		probably benign	Het
Ankhd1	GGCGGC	GGCGGCCGCGGC	18: 36,560,909		probably benign	Het
Anks1b	G	A	10: 90,033,225	G49D	probably damaging	Het
AY358078	T	TAGGATAATGA	14: 51,805,593		probably null	Het
Ccdc170	CCA	CCAGCA	10: 4,561,024		probably benign	Het
Cntrl	C	A	2: 35,175,189	D2168E	probably damaging	Het
Dab1	C	A	4: 104,713,652	R195S	probably benign	Het
Dnmt1	AGCACAGTTCCTACCTCGTT	AGCACAGTTCCTACCTCGTTTTGGGGGCGGCGCACAGTTCCTACCTCGTT	9: 20,910,126		probably null	Het
Elp6	A	T	9: 110,319,709	H222L	probably damaging	Het
Entpd2	CTT	CTTT	2: 25,400,895		probably null	Het
Fam71e1	GTCTGAGGGAGGA	GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGATCTGAGGGAGGA	7: 44,500,525		probably null	Het
Fam71e1	GGGAGGA	GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA	7: 44,500,531		probably null	Het
Fgf22	A	G	10: 79,756,846	H125R	probably benign	Het
Galnt18	G	A	7: 111,599,014	R180C	probably damaging	Het
Gm4969	T	C	7: 19,102,429	N291S	unknown	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	19: 11,511,742		probably null	Het
Gpsm1	C	A	2: 26,324,872	H288Q	probably damaging	Het
Ipo7	A	G	7: 110,048,794	I628V	probably benign	Het
Itpkb	C	T	1: 180,333,322	R338W	probably damaging	Het
Krtap28-10	CACAGC	CACAGCAACAGC	1: 83,042,138		probably benign	Het
Krtap28-10	CCACCACAGCCACAG	CCACCACAGCCACAGTCACCACAGCCACAG	1: 83,042,266		probably benign	Het
Krtap4-2	CAGCAGGGGCGGCA	C	11: 99,634,717		probably null	Het
Larp4b	G	T	13: 9,123,910	G30V	probably benign	Het
Lrmp	GCACATTG	GCACATTGATCACATTG	6: 145,173,784		probably benign	Het
Map1a	CTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGGTCCAGCTCCA	2: 121,306,308		probably benign	Het
Mccc2	A	C	13: 100,000,288	V53G	probably damaging	Het
Mug1	T	A	6: 121,884,574	Y1332N	probably damaging	Het
Ndnf	A	G	6: 65,704,329	T531A	probably damaging	Het
Ntsr2	T	G	12: 16,659,765	V349G	probably damaging	Het
Olfr117	A	T	17: 37,659,781	I184N	probably damaging	Het
P2ry14	A	T	3: 59,115,046	I331N	probably benign	Het
Pcdha11	T	C	18: 37,005,524	S69P	possibly damaging	Het
Ptp4a2	A	G	4: 129,839,444		probably benign	Het
Ptpn13	A	G	5: 103,593,580	D2353G	probably benign	Het
Rasa2	GCC	GCCCCC	9: 96,631,468		probably benign	Het
Raver2	A	T	4: 101,102,998	D225V	probably damaging	Het
Rph3a	A	T	5: 120,962,499		probably null	Het
Sin3a	T	A	9: 57,127,326	V1261E	possibly damaging	Het
Slc12a9	T	A	5: 137,325,550	I368F	probably damaging	Het
Spaca1	CTCGC	CTCGCTGTCGC	4: 34,049,853		probably benign	Het
Strn	C	CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTG	17: 78,677,288		probably null	Het
Tmem28	GCCGCC	GCCGCCACCGCC	X: 99,821,365		probably benign	Het
Ush2a	A	C	1: 188,263,469	T146P	probably damaging	Het
Usp37	A	G	1: 74,470,690	L440P	probably damaging	Het
Wdr66	AAGAGGAGGAAGAGGAGGGGGAGAAGGAG	AAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG	5: 123,253,890		probably benign	Het
Xpnpep1	T	A	19: 53,032,060	I24L	probably benign	Het

Other mutations in Krtap4-9

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01949:Krtap4-9	APN	11	99785565	unclassified	probably benign
IGL02697:Krtap4-9	APN	11	99785748	missense	unknown
IGL03176:Krtap4-9	APN	11	99785280	unclassified	probably benign
R0988:Krtap4-9	UTSW	11	99785536	nonsense	probably null
R1773:Krtap4-9	UTSW	11	99785570	unclassified	probably benign
R1838:Krtap4-9	UTSW	11	99785396	unclassified	probably benign
R2566:Krtap4-9	UTSW	11	99785666	unclassified	probably benign
R2888:Krtap4-9	UTSW	11	99785419	nonsense	probably null
R3757:Krtap4-9	UTSW	11	99785618	unclassified	probably benign
R4633:Krtap4-9	UTSW	11	99785554	unclassified	probably benign
R5930:Krtap4-9	UTSW	11	99785636	unclassified	probably benign
R6092:Krtap4-9	UTSW	11	99785655	unclassified	probably benign
R6501:Krtap4-9	UTSW	11	99785429	unclassified	probably benign
R6934:Krtap4-9	UTSW	11	99785882	nonsense	probably null
R7131:Krtap4-9	UTSW	11	99785457	missense	unknown
RF023:Krtap4-9	UTSW	11	99785391	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGCATGTGAGGACAACAGC -3'
(R):5'- GCAGCAGCTGGAAATGCAAC -3'

Sequencing Primer
(F):5'- TGTGAGGACAACAGCCCCTC -3'
(R):5'- TGGCAGCACACAGACTG -3'

Posted On

2019-12-04