Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02095:Krt40'

279580

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 #

IGL02095

Quality Score

Status

Chromosome

Chromosomal Location

99428311-99433984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99432497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 173 (D173G)

Ref Sequence

ENSEMBL: ENSMUSP00000073869 (fasta)

Gene Model

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

AlphaFold

Q6IFX3

Predicted Effect

probably damaging
Transcript: ENSMUST00000074253
AA Change: D173G

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073869
Gene: ENSMUSG00000059169
AA Change: D173G

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

SMART Domains

Protein: ENSMUSP00000103067
Gene: ENSMUSG00000059169

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,383,583 (GRCm39)	Q794L	probably benign	Het
Acrbp	C	A	6: 125,030,919 (GRCm39)	Y313*	probably null	Het
Adam9	A	G	8: 25,486,745 (GRCm39)	S178P	probably benign	Het
Adgrv1	T	C	13: 81,727,909 (GRCm39)	I244V	possibly damaging	Het
Atad5	A	G	11: 79,985,533 (GRCm39)	S207G	probably benign	Het
Atp10a	A	G	7: 58,457,141 (GRCm39)	D880G	probably damaging	Het
Cadps2	A	G	6: 23,427,309 (GRCm39)	I573T	probably benign	Het
Camsap3	A	G	8: 3,653,845 (GRCm39)	D494G	probably damaging	Het
Cbfa2t3	T	C	8: 123,360,232 (GRCm39)	E438G	probably damaging	Het
Cisd2	T	C	3: 135,116,980 (GRCm39)	D37G	possibly damaging	Het
Cndp2	T	C	18: 84,699,157 (GRCm39)	E36G	possibly damaging	Het
Ddx54	G	A	5: 120,761,856 (GRCm39)	G544D	possibly damaging	Het
Dok2	G	T	14: 71,015,301 (GRCm39)	G343W	possibly damaging	Het
Dscaml1	A	G	9: 45,359,001 (GRCm39)	N87D	probably damaging	Het
Ehf	T	C	2: 103,097,336 (GRCm39)	Y237C	probably damaging	Het
Exoc3	T	C	13: 74,328,655 (GRCm39)	T569A	probably damaging	Het
Fam151a	T	C	4: 106,605,072 (GRCm39)	V478A	probably damaging	Het
Fam227b	T	A	2: 125,942,924 (GRCm39)	H291L	probably damaging	Het
Fmn2	A	G	1: 174,330,167 (GRCm39)	T186A	unknown	Het
Ggnbp2	T	C	11: 84,723,954 (GRCm39)	Y660C	probably damaging	Het
Ggt5	G	A	10: 75,444,637 (GRCm39)	M318I	probably benign	Het
Gprc5d	A	G	6: 135,093,175 (GRCm39)	I244T	probably damaging	Het
Gucy2e	A	G	11: 69,123,613 (GRCm39)	S429P	possibly damaging	Het
Igf2r	T	C	17: 12,920,892 (GRCm39)	D1341G	probably damaging	Het
Kcnq4	T	C	4: 120,557,224 (GRCm39)		probably benign	Het
Lrrc27	C	T	7: 138,810,169 (GRCm39)	T380I	probably benign	Het
Lrrc4c	A	G	2: 97,459,749 (GRCm39)	N125S	probably benign	Het
Mtor	C	T	4: 148,628,998 (GRCm39)	R2217C	probably damaging	Het
Nfrkb	C	T	9: 31,322,527 (GRCm39)	R866W	probably damaging	Het
Or10s1	T	A	9: 39,985,967 (GRCm39)	Y125*	probably null	Het
Or4d10b	C	A	19: 12,036,913 (GRCm39)	V68F	probably benign	Het
P2ry6	T	A	7: 100,588,071 (GRCm39)	D96V	probably damaging	Het
Pcdh18	A	T	3: 49,710,605 (GRCm39)	S237T	probably benign	Het
Pck2	G	A	14: 55,779,967 (GRCm39)	R72Q	probably benign	Het
Pik3c2a	C	T	7: 115,945,423 (GRCm39)	R1461Q	probably damaging	Het
Polr3a	A	G	14: 24,504,678 (GRCm39)	V1130A	possibly damaging	Het
Ppm1d	T	A	11: 85,217,832 (GRCm39)	D198E	probably benign	Het
Rasa1	T	A	13: 85,364,274 (GRCm39)	E1022D	probably benign	Het
Rbm25	T	C	12: 83,718,748 (GRCm39)	Y507H	probably damaging	Het
Rbm26	A	T	14: 105,381,696 (GRCm39)	I488K	probably damaging	Het
Ryr2	T	A	13: 11,774,645 (GRCm39)	E1170D	probably damaging	Het
Sdk2	T	G	11: 113,725,656 (GRCm39)	T1198P	probably damaging	Het
Sema3g	C	T	14: 30,949,781 (GRCm39)	T654I	probably benign	Het
Spag9	A	T	11: 93,999,408 (GRCm39)	H1108L	probably damaging	Het
Trgc2	T	A	13: 19,491,580 (GRCm39)		probably benign	Het
Ubap2	T	C	4: 41,229,709 (GRCm39)	N142S	probably benign	Het
Usp33	T	C	3: 152,087,431 (GRCm39)	F699L	possibly damaging	Het
Ythdc2	A	G	18: 45,006,207 (GRCm39)		probably benign	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
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
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

2015-04-16