Mutagenetix > Incidental Mutation

Incidental Mutation 'R7897:Krtap31-1'

609766

Institutional Source

Beutler Lab

Gene Symbol

Krtap31-1

Ensembl Gene

ENSMUSG00000070334

Gene Name

keratin associated protein 31-1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R7897 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99907920-99908892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99908123 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 51 (C51R)

Ref Sequence

ENSEMBL: ENSMUSP00000091467 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093935]

AlphaFold

Q9D644

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093935
AA Change: C51R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000091467
Gene: ENSMUSG00000070334
AA Change: C51R

Domain	Start	End	E-Value	Type
low complexity region	18	28	N/A	INTRINSIC
low complexity region	40	56	N/A	INTRINSIC
Pfam:Keratin_B2_2	64	107	1.9e-9	PFAM
Pfam:Keratin_B2_2	111	157	2.4e-6	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700080E11Rik	A	C	9: 105,144,510	Y112*	probably null	Het
Abcb11	TGTTGATCCATA	T	2: 69,323,872		probably null	Het
Abcb11	GTTGATCCATACA	G	2: 69,323,873		probably benign	Het
Abcc10	T	C	17: 46,324,073	T335A	probably benign	Het
Actr3b	T	C	5: 25,831,659	Y245H	probably benign	Het
Afm	G	A	5: 90,547,868	M411I	probably benign	Het
Ahr	T	C	12: 35,504,170	N650S	possibly damaging	Het
Ap5m1	A	G	14: 49,073,775	R101G	probably benign	Het
Armcx5	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA	X: 135,745,704		probably benign	Het
Atp13a4	T	C	16: 29,396,466	Q1151R		Het
Bcl9	A	G	3: 97,205,251	V1296A	possibly damaging	Het
Bsn	A	C	9: 108,111,866	M2229R	probably damaging	Het
Cfap74	T	C	4: 155,429,894	V529A		Het
Clip1	C	T	5: 123,622,798	V767M	probably benign	Het
Col6a5	A	G	9: 105,889,183	I1846T	possibly damaging	Het
Crisp1	A	T	17: 40,307,765	D68E	probably benign	Het
Csmd1	A	T	8: 17,534,919	L19Q	possibly damaging	Het
Cul7	T	C	17: 46,658,005	I892T	probably benign	Het
Elavl3	G	A	9: 22,018,550	R353C	probably damaging	Het
Fam184a	C	A	10: 53,633,706	E126*	probably null	Het
Fbxo3	A	G	2: 104,053,412	D327G	possibly damaging	Het
Galr1	T	C	18: 82,406,131	N7S	probably benign	Het
Glyatl3	T	C	17: 40,904,911	T235A	probably damaging	Het
Gm11639	A	T	11: 104,998,235	Y4159F	probably benign	Het
Gm5145	A	C	17: 20,570,705	Q115P	probably benign	Het
Grm5	T	C	7: 88,130,861	S1202P	probably benign	Het
Itsn1	G	A	16: 91,818,558	R397H	unknown	Het
Jmjd1c	A	G	10: 67,239,865	N1837S	probably damaging	Het
Jph3	A	T	8: 121,789,397		probably null	Het
Kcna6	A	G	6: 126,738,798	L376P	probably damaging	Het
Kcne3	C	G	7: 100,184,313	R46G	probably benign	Het
Kcnq2	T	C	2: 181,081,141	D842G	probably damaging	Het
Klhl12	A	T	1: 134,458,481	I4F	probably benign	Het
Kpna1	T	A	16: 36,033,865	I525N	probably benign	Het
Ms4a12	C	T	19: 11,230,359	G61D	possibly damaging	Het
Nol4	T	C	18: 22,823,343	N115D		Het
Pcdh15	A	G	10: 74,453,995	Y882C	probably damaging	Het
Pde8b	T	A	13: 95,107,694	H79L	probably benign	Het
Pdia2	T	C	17: 26,198,233	E79G	probably benign	Het
Pgap1	A	T	1: 54,551,008	F90L	probably damaging	Het
Pik3cd	T	A	4: 149,657,269	T407S	probably benign	Het
Pkd1l2	G	T	8: 116,998,088	F2361L	possibly damaging	Het
Pla2g12b	A	T	10: 59,410,994	R77*	probably null	Het
Ppfia2	A	G	10: 106,819,538	Y322C	probably damaging	Het
Psg23	T	C	7: 18,607,183	Q382R	possibly damaging	Het
Ptprq	A	G	10: 107,710,623	V270A	probably benign	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Robo2	T	C	16: 73,898,950	E1431G	probably benign	Het
Sdk2	A	G	11: 113,873,201	I253T	possibly damaging	Het
Sox9	A	C	11: 112,784,809	I275L	probably benign	Het
Tlr4	A	G	4: 66,839,821	I284V	probably benign	Het
Unc13b	A	G	4: 43,171,860	D896G	unknown	Het
Usp48	A	T	4: 137,644,428	H955L	probably damaging	Het
Vps54	T	C	11: 21,263,307	I30T	probably benign	Het
Zfp106	G	A	2: 120,535,615	R59*	probably null	Het
Zmym4	A	T	4: 126,889,539	D1169E	possibly damaging	Het
Zscan2	T	A	7: 80,875,700	Y390N	probably damaging	Het

Other mutations in Krtap31-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1608:Krtap31-1	UTSW	11	99908093	missense	probably benign	0.18
R2284:Krtap31-1	UTSW	11	99908255	nonsense	probably null
R2343:Krtap31-1	UTSW	11	99908021	missense	possibly damaging	0.86
R4072:Krtap31-1	UTSW	11	99908232	missense	possibly damaging	0.52
R4074:Krtap31-1	UTSW	11	99908232	missense	possibly damaging	0.52
R4076:Krtap31-1	UTSW	11	99908232	missense	possibly damaging	0.52
R4086:Krtap31-1	UTSW	11	99908319	missense	possibly damaging	0.93
R4884:Krtap31-1	UTSW	11	99908484	missense	unknown
R7644:Krtap31-1	UTSW	11	99908222	missense	possibly damaging	0.71
R7670:Krtap31-1	UTSW	11	99908432	missense	not run
R7949:Krtap31-1	UTSW	11	99908318	missense	possibly damaging	0.71
R8158:Krtap31-1	UTSW	11	99908075	missense	possibly damaging	0.53

Predicted Primers

PCR Primer
(F):5'- TGGGAACAGACTATCACTCTCC -3'
(R):5'- AAAGGAGGTGGTCTTGCAGC -3'

Sequencing Primer
(F):5'- GGAACAGACTATCACTCTCCACTCC -3'
(R):5'- CTTGCAGCAGCTGGTTTCACAG -3'

Posted On

2019-12-20