Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03240:Krt40'

414249

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krt40

Ensembl Gene

ENSMUSG00000059169

Gene Name

keratin 40

Synonyms

Ka36

Accession Numbers

Essential gene?

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

Stock #

IGL03240

Quality Score

Status

Chromosome

Chromosomal Location

99428311-99433984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 99428394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 333 (S333C)

Ref Sequence

ENSEMBL: ENSMUSP00000103067 (fasta)

Gene Model

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

AlphaFold

Q6IFX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000074253
AA Change: S413C

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073869
Gene: ENSMUSG00000059169
AA Change: S413C

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 damaging
Transcript: ENSMUST00000107443
AA Change: S333C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103067
Gene: ENSMUSG00000059169
AA Change: S333C

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

Coding Region Coverage

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,350,365 (GRCm39)		probably benign	Het
AA467197	A	G	2: 122,481,182 (GRCm39)	T57A	probably benign	Het
Akap11	A	T	14: 78,733,345 (GRCm39)	D1852E	probably damaging	Het
Arg2	T	A	12: 79,178,605 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,845,107 (GRCm39)	D1437G	probably benign	Het
AW551984	C	A	9: 39,500,418 (GRCm39)	R780L	probably benign	Het
Baz1a	T	A	12: 54,974,352 (GRCm39)	K503*	probably null	Het
Bltp3a	C	A	17: 28,112,227 (GRCm39)	N1167K	probably benign	Het
Cdk2ap1	A	T	5: 124,484,207 (GRCm39)	H96Q	probably damaging	Het
Col11a1	T	A	3: 114,010,859 (GRCm39)		probably null	Het
Col12a1	A	T	9: 79,585,665 (GRCm39)		probably null	Het
Col22a1	G	A	15: 71,679,777 (GRCm39)	P877S	unknown	Het
Col7a1	A	T	9: 108,797,441 (GRCm39)	N1681Y	probably null	Het
Dennd1b	T	G	1: 139,067,130 (GRCm39)	S398A	possibly damaging	Het
Fgd2	C	T	17: 29,580,135 (GRCm39)		probably benign	Het
Hadh	T	C	3: 131,042,192 (GRCm39)	S98G	probably benign	Het
Has2	C	T	15: 56,531,656 (GRCm39)	R353H	probably damaging	Het
Heg1	T	C	16: 33,547,783 (GRCm39)	S857P	probably benign	Het
Hemgn	T	A	4: 46,400,732 (GRCm39)	R43*	probably null	Het
Htr4	A	T	18: 62,570,692 (GRCm39)	H249L	possibly damaging	Het
Hycc2	A	G	1: 58,569,076 (GRCm39)	L501P	probably damaging	Het
Iqgap3	T	C	3: 88,022,281 (GRCm39)	S495P	probably benign	Het
Kars1	T	C	8: 112,732,271 (GRCm39)	D99G	probably benign	Het
Lamc2	T	C	1: 152,999,871 (GRCm39)	I1163V	probably damaging	Het
Lrrn2	A	T	1: 132,866,065 (GRCm39)	I377F	possibly damaging	Het
Mcm5	T	A	8: 75,842,530 (GRCm39)	I268N	probably damaging	Het
Mmp21	G	T	7: 133,276,300 (GRCm39)	H514Q	probably damaging	Het
Mtcl1	G	A	17: 66,645,014 (GRCm39)	P1478S	probably damaging	Het
Mybbp1a	A	G	11: 72,336,492 (GRCm39)	T495A	possibly damaging	Het
Myo10	T	A	15: 25,701,688 (GRCm39)	V21E	probably damaging	Het
Nap1l4	A	G	7: 143,091,982 (GRCm39)	S49P	probably benign	Het
Ncoa2	G	A	1: 13,247,316 (GRCm39)	S369F	probably damaging	Het
Niban2	A	C	2: 32,812,109 (GRCm39)	Y397S	probably benign	Het
Or5g9	A	T	2: 85,552,675 (GRCm39)	K309*	probably null	Het
Pon2	A	G	6: 5,265,316 (GRCm39)		probably benign	Het
Ppdpf	T	C	2: 180,829,673 (GRCm39)	S43P	probably benign	Het
Psmd6	A	G	14: 14,112,393 (GRCm38)		probably benign	Het
Ptprk	G	T	10: 28,368,957 (GRCm39)	R643L	probably damaging	Het
Ptprq	T	A	10: 107,524,368 (GRCm39)	Y455F	probably benign	Het
Sec23b	G	A	2: 144,408,679 (GRCm39)		probably benign	Het
Sh3pxd2a	A	G	19: 47,256,465 (GRCm39)	L751P	probably damaging	Het
Snx6	T	A	12: 54,830,228 (GRCm39)	H77L	probably damaging	Het
Svep1	C	A	4: 58,048,188 (GRCm39)	C3472F	possibly damaging	Het
Trpd52l3	A	T	19: 29,981,396 (GRCm39)	E50D	probably damaging	Het
Ttc33	A	G	15: 5,246,809 (GRCm39)	D205G	probably damaging	Het
Tubgcp3	A	T	8: 12,699,797 (GRCm39)	V352E	probably benign	Het
Tulp2	T	G	7: 45,171,734 (GRCm39)	F436C	probably damaging	Het
Vmn1r123	T	A	7: 20,896,282 (GRCm39)	M58K	possibly damaging	Het
Vmn2r113	T	C	17: 23,174,931 (GRCm39)	V514A	probably benign	Het
Vps13c	T	C	9: 67,862,329 (GRCm39)	V2982A	probably benign	Het
Ywhaq	T	C	12: 21,445,001 (GRCm39)	T215A	possibly damaging	Het
Zfp677	A	T	17: 21,617,135 (GRCm39)	H64L	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
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
R5886:Krt40	UTSW	11	99,430,907 (GRCm39)	missense	probably benign	0.34
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

Posted On

2016-08-02