Mutagenetix > Incidental Mutation

Incidental Mutation 'R4076:Krtap31-1'

316573

Institutional Source

Beutler Lab

Gene Symbol

Krtap31-1

Ensembl Gene

ENSMUSG00000070334

Gene Name

keratin associated protein 31-1

Synonyms

MMRRC Submission

040975-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R4076 (G1)

Quality Score

186

Status

Not validated

Chromosome

Chromosomal Location

99907920-99908892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99908232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 87 (I87T)

Ref Sequence

ENSEMBL: ENSMUSP00000091467 (fasta)

Gene Model

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

AlphaFold

Q9D644

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093935
AA Change: I87T

PolyPhen 2 Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000091467
Gene: ENSMUSG00000070334
AA Change: I87T

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	T	A	7: 119,698,758	L206H	probably benign	Het
Anxa5	T	C	3: 36,450,380	I277V	probably benign	Het
Atg12	A	G	18: 46,737,424	F92L	probably benign	Het
Cd48	T	A	1: 171,695,883	V98D	probably damaging	Het
Dnah11	A	G	12: 118,045,678	M2083T	probably benign	Het
Dnah9	T	C	11: 66,084,904	T1440A	probably benign	Het
Dnali1	T	C	4: 125,059,470	D188G	probably damaging	Het
Dst	A	G	1: 34,192,269	E2656G	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Ercc4	G	A	16: 13,130,685	V499I	probably damaging	Het
Eva1c	T	A	16: 90,904,131	F331Y	probably damaging	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Fras1	G	C	5: 96,743,158	D2849H	probably damaging	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Hdc	C	T	2: 126,616,261	R47Q	possibly damaging	Het
Ighv1-30	C	T	12: 114,817,401		noncoding transcript	Het
Lamp3	A	G	16: 19,700,716	L239P	possibly damaging	Het
Ltb4r2	A	T	14: 55,762,941	R340W	probably benign	Het
Map10	T	C	8: 125,671,845	V659A	probably benign	Het
Nars2	T	A	7: 96,958,094	S91T	probably damaging	Het
Nlrp4c	A	G	7: 6,072,710	K667E	probably benign	Het
Obox3	G	T	7: 15,625,799	T315N	possibly damaging	Het
Olfr1469	G	A	19: 13,410,935	R122H	possibly damaging	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Osgin1	A	C	8: 119,445,033	S189R	possibly damaging	Het
Pidd1	A	G	7: 141,440,826	F453L	probably damaging	Het
Pik3c2g	A	T	6: 139,852,863	N373I	probably damaging	Het
Pou2f2	T	C	7: 25,097,288	T270A	probably damaging	Het
Rad51b	T	G	12: 79,314,882	S122R	probably damaging	Het
Rev1	T	G	1: 38,054,238	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,963,110	Q1045P	probably benign	Het
Scg2	A	C	1: 79,436,857	F50V	probably damaging	Het
Slco1a5	A	T	6: 142,268,224	I57K	possibly damaging	Het
Tfb1m	T	A	17: 3,521,670	R257W	probably damaging	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Usp31	A	G	7: 121,667,782		probably null	Het
Zbtb11	C	T	16: 55,998,064	T617I	possibly damaging	Het
Zfp608	A	T	18: 54,898,108	V920E	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
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
R7897:Krtap31-1	UTSW	11	99908123	missense	possibly damaging	0.73
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'- AATCCAGCTCTGAATCCAGC -3'
(R):5'- TGGTTATCAGCGGCAGATG -3'

Sequencing Primer
(F):5'- TGAATCCAGCTGCCCTGTG -3'
(R):5'- TATCAGCGGCAGATGGGCAC -3'

Posted On

2015-05-15