Mutagenetix > Incidental Mutation

Incidental Mutation 'R5886:Krt40'

456106

Institutional Source

Beutler Lab

Gene Symbol

Krt40

Ensembl Gene

ENSMUSG00000059169

Gene Name

keratin 40

Synonyms

Ka36

MMRRC Submission

044088-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R5886 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99428311-99433984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 99430907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 201 (A201T)

Ref Sequence

ENSEMBL: ENSMUSP00000103067 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074253] [ENSMUST00000107443]

AlphaFold

Q6IFX3

Predicted Effect

probably benign
Transcript: ENSMUST00000074253
AA Change: A281T

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000073869
Gene: ENSMUSG00000059169
AA Change: A281T

Domain	Start	End	E-Value	Type
low complexity region	28	41	N/A	INTRINSIC
Filament	88	399	1.07e-139	SMART
internal_repeat_1	409	419	9.76e-5	PROSPERO
internal_repeat_1	417	427	9.76e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000107443
AA Change: A201T

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103067
Gene: ENSMUSG00000059169
AA Change: A201T

Domain	Start	End	E-Value	Type
low complexity region	28	41	N/A	INTRINSIC
Pfam:Filament	88	149	4.8e-19	PFAM
Pfam:Filament	146	319	6.1e-50	PFAM

Meta Mutation Damage Score

0.0854

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.2%
20x: 91.0%

Validation Efficiency

96% (78/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21. [provided by RefSeq, Jul 2009]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,775,162 (GRCm39)	V367A	probably benign	Het
Adam26b	T	C	8: 43,973,310 (GRCm39)	E564G	possibly damaging	Het
Akap1	A	G	11: 88,725,486 (GRCm39)		probably null	Het
Akap5	T	A	12: 76,374,619 (GRCm39)	V10E	possibly damaging	Het
Atad2	A	T	15: 57,961,910 (GRCm39)	L887*	probably null	Het
Brd10	T	C	19: 29,696,677 (GRCm39)	I939V	probably benign	Het
C1qbp	A	G	11: 70,873,008 (GRCm39)	V122A	probably benign	Het
C1qtnf7	G	A	5: 43,772,998 (GRCm39)	G92D	probably damaging	Het
Cacna1a	T	C	8: 85,249,651 (GRCm39)	I219T	probably damaging	Het
Capn12	A	G	7: 28,587,030 (GRCm39)	N333S	probably benign	Het
Ccdc154	C	T	17: 25,390,792 (GRCm39)	T644I	probably benign	Het
Cd200r1	T	C	16: 44,610,566 (GRCm39)	S225P	possibly damaging	Het
Cntnap5a	T	C	1: 116,499,402 (GRCm39)		probably null	Het
Coq4	A	T	2: 29,680,626 (GRCm39)		probably benign	Het
Cubn	A	T	2: 13,324,834 (GRCm39)		probably benign	Het
Cyp4f17	A	T	17: 32,743,013 (GRCm39)	S229C	possibly damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
D930007J09Rik	C	A	13: 32,986,819 (GRCm39)	A200E	probably benign	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Duoxa1	A	T	2: 122,134,291 (GRCm39)	S276T	possibly damaging	Het
Efcab15	A	G	11: 103,098,947 (GRCm39)		probably null	Het
Efhb	T	C	17: 53,758,582 (GRCm39)	I351M	probably benign	Het
Fat1	G	A	8: 45,480,718 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,486,432 (GRCm39)	T3329S	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gm973	T	A	1: 59,597,409 (GRCm39)		probably benign	Het
Gpr156	T	A	16: 37,799,375 (GRCm39)	L124Q	probably damaging	Het
Hars2	T	A	18: 36,923,150 (GRCm39)		probably benign	Het
Hcrt	G	A	11: 100,652,759 (GRCm39)	A85V	probably damaging	Het
Hivep1	A	G	13: 42,310,088 (GRCm39)	D776G	probably damaging	Het
Hmgcr	A	T	13: 96,796,691 (GRCm39)	S200T	probably damaging	Het
Lca5	G	A	9: 83,281,734 (GRCm39)	A350V	probably benign	Het
Lrig2	T	A	3: 104,370,014 (GRCm39)	M515L	probably benign	Het
Mbd5	A	G	2: 49,162,464 (GRCm39)	D90G	probably damaging	Het
Mfsd4a	C	T	1: 131,995,465 (GRCm39)	V56I	probably damaging	Het
Mpi	A	G	9: 57,455,745 (GRCm39)		probably benign	Het
Mroh4	G	T	15: 74,478,296 (GRCm39)	D935E	possibly damaging	Het
Mtg1	G	T	7: 139,729,778 (GRCm39)		probably null	Het
Nanos1	T	A	19: 60,745,268 (GRCm39)	C189S	probably damaging	Het
Naprt	A	C	15: 75,763,324 (GRCm39)		probably null	Het
Nubpl	T	A	12: 52,228,092 (GRCm39)		probably null	Het
Or10ad1b	T	C	15: 98,124,672 (GRCm39)	T285A	possibly damaging	Het
Or10d4	G	T	9: 39,581,252 (GRCm39)	V300L	probably benign	Het
Or8g23	T	A	9: 38,971,678 (GRCm39)	T95S	probably benign	Het
Or9g20	A	G	2: 85,630,147 (GRCm39)	S156P	probably damaging	Het
Otud4	T	A	8: 80,399,436 (GRCm39)	Y717N	probably damaging	Het
Pakap	T	A	4: 57,856,295 (GRCm39)	D582E	probably damaging	Het
Pnpla1	T	C	17: 29,095,837 (GRCm39)	F86S	possibly damaging	Het
Prlhr	C	T	19: 60,456,014 (GRCm39)	W184*	probably null	Het
Rtp3	A	G	9: 110,816,204 (GRCm39)	S116P	probably damaging	Het
Sema3c	T	C	5: 17,886,984 (GRCm39)	I345T	possibly damaging	Het
Skor2	T	C	18: 76,947,124 (GRCm39)	L282P	unknown	Het
Slc24a4	T	C	12: 102,226,674 (GRCm39)	V468A	probably damaging	Het
Slfn8	C	T	11: 82,894,160 (GRCm39)	M826I	probably benign	Het
Tacc2	A	G	7: 130,330,850 (GRCm39)	D378G	probably benign	Het
Thbs3	C	A	3: 89,127,470 (GRCm39)	D370E	probably damaging	Het
Tk1	CC	GA	11: 117,707,948 (GRCm39)		probably benign	Het
Tm7sf2	A	G	19: 6,116,572 (GRCm39)		probably benign	Het
Trappc8	T	C	18: 21,007,737 (GRCm39)	Y126C	probably damaging	Het
Trim35	C	G	14: 66,541,502 (GRCm39)	L209V	possibly damaging	Het
Trim35	T	C	14: 66,541,503 (GRCm39)	L209P	probably damaging	Het
Trip12	C	T	1: 84,708,179 (GRCm39)		probably benign	Het
Trp53bp1	A	G	2: 121,035,502 (GRCm39)	V1583A	probably damaging	Het
Tuba5-ps	A	G	1: 134,447,937 (GRCm39)		noncoding transcript	Het
Tubgcp6	A	T	15: 88,987,450 (GRCm39)	N1166K	possibly damaging	Het
Usp54	C	T	14: 20,611,910 (GRCm39)	D969N	probably benign	Het
Vldlr	C	A	19: 27,221,171 (GRCm39)	S612R	probably benign	Het
Vps13a	T	C	19: 16,641,926 (GRCm39)	T2234A	probably benign	Het
Vps39	A	G	2: 120,152,053 (GRCm39)		probably benign	Het
Zdhhc3	A	T	9: 122,920,146 (GRCm39)	C120S	probably benign	Het
Zfp37	A	G	4: 62,109,471 (GRCm39)	F531S	probably damaging	Het

Other mutations in Krt40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01407:Krt40	APN	11	99,432,045 (GRCm39)	missense	probably damaging	1.00
IGL01483:Krt40	APN	11	99,433,553 (GRCm39)	missense	probably damaging	1.00
IGL01621:Krt40	APN	11	99,433,694 (GRCm39)	missense	probably damaging	1.00
IGL01921:Krt40	APN	11	99,433,989 (GRCm39)	unclassified	probably benign
IGL02095:Krt40	APN	11	99,432,497 (GRCm39)	missense	probably damaging	0.98
IGL02735:Krt40	APN	11	99,429,461 (GRCm39)	missense	probably damaging	1.00
IGL02960:Krt40	APN	11	99,430,693 (GRCm39)	splice site	probably null
IGL02965:Krt40	APN	11	99,432,492 (GRCm39)	missense	probably damaging	1.00
IGL03168:Krt40	APN	11	99,433,854 (GRCm39)	missense	possibly damaging	0.87
IGL03240:Krt40	APN	11	99,428,394 (GRCm39)	missense	probably damaging	1.00
IGL03387:Krt40	APN	11	99,430,711 (GRCm39)	missense	probably damaging	1.00
R0178:Krt40	UTSW	11	99,432,565 (GRCm39)	missense	probably damaging	0.99
R0242:Krt40	UTSW	11	99,429,568 (GRCm39)	missense	probably damaging	1.00
R0242:Krt40	UTSW	11	99,429,568 (GRCm39)	missense	probably damaging	1.00
R0389:Krt40	UTSW	11	99,432,540 (GRCm39)	nonsense	probably null
R1104:Krt40	UTSW	11	99,431,059 (GRCm39)	missense	probably damaging	1.00
R2018:Krt40	UTSW	11	99,430,913 (GRCm39)	missense	probably damaging	1.00
R2022:Krt40	UTSW	11	99,430,818 (GRCm39)	missense	probably damaging	1.00
R4498:Krt40	UTSW	11	99,433,900 (GRCm39)	missense	possibly damaging	0.53
R4716:Krt40	UTSW	11	99,431,045 (GRCm39)	missense	probably damaging	1.00
R6232:Krt40	UTSW	11	99,433,920 (GRCm39)	missense	possibly damaging	0.85
R6233:Krt40	UTSW	11	99,433,920 (GRCm39)	missense	possibly damaging	0.85
R6235:Krt40	UTSW	11	99,433,920 (GRCm39)	missense	possibly damaging	0.85
R6248:Krt40	UTSW	11	99,432,566 (GRCm39)	missense	possibly damaging	0.95
R7064:Krt40	UTSW	11	99,430,954 (GRCm39)	missense	probably benign	0.32
R7400:Krt40	UTSW	11	99,433,969 (GRCm39)	missense	probably benign	0.00
R7589:Krt40	UTSW	11	99,430,983 (GRCm39)	missense	probably damaging	1.00
R7831:Krt40	UTSW	11	99,432,087 (GRCm39)	missense	probably benign	0.06
R7838:Krt40	UTSW	11	99,430,961 (GRCm39)	missense	possibly damaging	0.92
R9156:Krt40	UTSW	11	99,430,693 (GRCm39)	splice site	probably null
R9342:Krt40	UTSW	11	99,429,579 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGCTGGCACTGTTCATCC -3'
(R):5'- ATTTCCACCCACAGGAGGTC -3'

Sequencing Primer
(F):5'- CAATTTCCAGAGTGTTGGCC -3'
(R):5'- AGGTCAACCTGCTTCGTGAG -3'

Posted On

2017-02-15