Mutagenetix > Incidental Mutation

Incidental Mutation 'R2343:Krtap31-1'

245905

Institutional Source

Beutler Lab

Gene Symbol

Krtap31-1

Ensembl Gene

ENSMUSG00000070334

Gene Name

keratin associated protein 31-1

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R2343 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99907920-99908892 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 99908021 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 17 (T17P)

Ref Sequence

ENSEMBL: ENSMUSP00000091467 (fasta)

Gene Model

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

AlphaFold

Q9D644

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093935
AA Change: T17P

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091467
Gene: ENSMUSG00000070334
AA Change: T17P

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcr	T	C	10: 75,145,422	I691T	probably benign	Het
Col20a1	A	G	2: 181,001,331	T865A	possibly damaging	Het
Dmxl1	G	A	18: 49,890,678	R1676H	probably damaging	Het
Dsg2	T	C	18: 20,602,298	V1111A	probably damaging	Het
Eif3g	T	C	9: 20,895,154	Y213C	probably damaging	Het
Fat4	C	T	3: 38,957,105	S2118F	probably damaging	Het
Gpr85	A	G	6: 13,836,696	S70P	probably damaging	Het
Lig1	A	G	7: 13,292,195		probably null	Het
Lman2l	A	T	1: 36,428,109	D269E	possibly damaging	Het
Mcc	A	G	18: 44,459,797		probably null	Het
Nav2	T	C	7: 49,598,817	F2302L	possibly damaging	Het
Nsf	C	T	11: 103,930,752	E26K	possibly damaging	Het
Olfr1282	A	G	2: 111,335,700	I126T	probably damaging	Het
Olfr1342	C	A	4: 118,690,187	M88I	probably benign	Het
Sema6c	T	C	3: 95,167,083	F67L	probably damaging	Het
Sez6l	A	T	5: 112,464,731	V448D	probably damaging	Het
Smoc2	A	G	17: 14,344,342	K160R	probably benign	Het
Spata2	A	T	2: 167,483,360	V513E	probably damaging	Het
Susd3	T	A	13: 49,238,859	M107L	probably damaging	Het
Tnni3k	A	G	3: 154,938,829	I564T	probably benign	Het
Zfp971	A	G	2: 178,032,994	K129E	possibly 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
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
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'- GCACTGGGTGAGAAATTCTTC -3'
(R):5'- TGGTCACACAGGTTGGCTTG -3'

Sequencing Primer
(F):5'- GGGTGAGAAATTCTTCCTTGATGAAC -3'
(R):5'- TTGCTGTCACAGGAGGCAG -3'

Posted On

2014-10-30