Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01621:Krt40'

92567

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 #

IGL01621

Quality Score

Status

Chromosome

Chromosomal Location

99428311-99433984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99433694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 97 (N97K)

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: N97K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073869
Gene: ENSMUSG00000059169
AA Change: N97K

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

possibly damaging
Transcript: ENSMUST00000107443
AA Change: N97K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103067
Gene: ENSMUSG00000059169
AA Change: N97K

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	T	5: 64,055,726 (GRCm39)	T154I	possibly damaging	Het
4933434E20Rik	T	A	3: 89,971,809 (GRCm39)	M56K	possibly damaging	Het
Abca6	A	G	11: 110,075,534 (GRCm39)	L1319S	probably damaging	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Aloxe3	A	G	11: 69,020,839 (GRCm39)	N188S	probably benign	Het
Ap1s1	G	A	5: 137,070,658 (GRCm39)	R119*	probably null	Het
Apc2	T	G	10: 80,142,035 (GRCm39)	L318R	probably damaging	Het
Atg101	A	G	15: 101,184,976 (GRCm39)	S33G	possibly damaging	Het
Atp8a2	A	T	14: 60,253,317 (GRCm39)		probably benign	Het
Bpifb9b	C	A	2: 154,158,871 (GRCm39)		probably null	Het
Braf	A	T	6: 39,623,787 (GRCm39)		probably benign	Het
Cabp5	A	G	7: 13,135,189 (GRCm39)	D43G	probably damaging	Het
Cfap46	T	C	7: 139,186,523 (GRCm39)	N2462S	unknown	Het
Cit	C	T	5: 116,130,662 (GRCm39)		probably benign	Het
Cpa4	T	C	6: 30,574,415 (GRCm39)	V68A	probably damaging	Het
Cyp2j5	T	C	4: 96,517,791 (GRCm39)	I474V	probably benign	Het
Dennd1a	C	A	2: 37,734,821 (GRCm39)	D49Y	probably damaging	Het
Dlg5	T	C	14: 24,198,289 (GRCm39)	D1525G	probably damaging	Het
Dnajc18	C	T	18: 35,813,893 (GRCm39)	R292H	probably benign	Het
Dync2h1	A	G	9: 7,140,897 (GRCm39)		probably null	Het
E2f6	A	G	12: 16,875,369 (GRCm39)	D268G	probably benign	Het
Evi2b	T	A	11: 79,407,126 (GRCm39)	T150S	probably damaging	Het
F13b	A	G	1: 139,431,589 (GRCm39)	D53G	probably benign	Het
Fbxo38	G	A	18: 62,655,595 (GRCm39)		probably benign	Het
Flnb	C	T	14: 7,950,470 (GRCm38)	P2596L	probably damaging	Het
Fyco1	A	G	9: 123,656,247 (GRCm39)		probably benign	Het
Gm21759	A	G	5: 8,229,775 (GRCm39)		probably benign	Het
Gtse1	A	G	15: 85,759,283 (GRCm39)	N597S	probably benign	Het
Hcn3	G	T	3: 89,055,030 (GRCm39)	S739Y	probably damaging	Het
Ighv9-4	T	A	12: 114,263,612 (GRCm39)	N107I	probably damaging	Het
Inava	C	A	1: 136,147,513 (GRCm39)	A402S	probably damaging	Het
Iqub	T	C	6: 24,446,211 (GRCm39)	K738E	probably benign	Het
Itga6	A	T	2: 71,656,000 (GRCm39)	D308V	probably benign	Het
Klf12	T	C	14: 100,260,585 (GRCm39)	Y48C	probably damaging	Het
Klhdc9	A	G	1: 171,186,384 (GRCm39)	*351Q	probably null	Het
Lrit1	A	C	14: 36,782,112 (GRCm39)	T262P	probably damaging	Het
Mcoln1	T	C	8: 3,560,910 (GRCm39)	Y411H	probably damaging	Het
Mfsd4a	A	G	1: 131,981,881 (GRCm39)	S149P	probably benign	Het
Minar2	A	G	18: 59,195,458 (GRCm39)	M1V	probably null	Het
Mipep	A	G	14: 61,033,614 (GRCm39)		probably benign	Het
Mslnl	A	G	17: 25,962,641 (GRCm39)		probably benign	Het
N4bp2	A	T	5: 65,948,267 (GRCm39)	H299L	probably damaging	Het
Nbn	C	T	4: 15,965,221 (GRCm39)	P190S	probably benign	Het
Nos1	T	A	5: 118,083,949 (GRCm39)	I1253N	probably damaging	Het
Nup210	G	T	6: 91,007,099 (GRCm39)	F572L	probably damaging	Het
Or10k2	T	C	8: 84,268,247 (GRCm39)	V158A	probably benign	Het
Or1e30	T	C	11: 73,678,103 (GRCm39)	F113S	probably damaging	Het
Or2y11	T	C	11: 49,442,964 (GRCm39)	L130P	probably damaging	Het
P4htm	T	A	9: 108,460,935 (GRCm39)	E106V	probably damaging	Het
Pcdhb20	C	T	18: 37,637,860 (GRCm39)	H129Y	possibly damaging	Het
Pdcd6ip	T	C	9: 113,514,490 (GRCm39)	E240G	probably benign	Het
Pex5l	T	C	3: 33,069,110 (GRCm39)		probably null	Het
Plcd1	T	C	9: 118,905,246 (GRCm39)	N181S	probably damaging	Het
Plekhg6	G	T	6: 125,349,062 (GRCm39)	L412M	probably damaging	Het
Ppp1r13b	T	A	12: 111,801,526 (GRCm39)	Q386L	possibly damaging	Het
Pramel25	T	C	4: 143,520,502 (GRCm39)	F85L	probably benign	Het
Prpf40b	A	G	15: 99,207,926 (GRCm39)		probably benign	Het
Rdh11	C	T	12: 79,233,187 (GRCm39)		probably null	Het
Ripor3	A	T	2: 167,839,172 (GRCm39)	S110T	probably damaging	Het
Sec24d	G	A	3: 123,087,807 (GRCm39)		probably null	Het
Secisbp2l	T	C	2: 125,615,131 (GRCm39)	S165G	probably benign	Het
Shank1	C	T	7: 43,991,889 (GRCm39)	A698V	unknown	Het
Shank1	T	C	7: 44,001,023 (GRCm39)	M914T	unknown	Het
Slc22a3	T	C	17: 12,677,379 (GRCm39)	Q263R	probably benign	Het
Smc1a	C	A	X: 150,819,125 (GRCm39)	Q647K	probably damaging	Het
Sohlh1	A	G	2: 25,736,873 (GRCm39)		probably benign	Het
Tacc2	C	A	7: 130,331,498 (GRCm39)	T484K	probably damaging	Het
Ubr4	G	T	4: 139,168,094 (GRCm39)	E2825*	probably null	Het
Wbp2nl	G	A	15: 82,192,806 (GRCm39)	M163I	probably benign	Het
Zfp69	T	A	4: 120,788,697 (GRCm39)	K206M	probably damaging	Het
Zswim3	G	A	2: 164,663,440 (GRCm39)	R640H	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
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
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

2013-12-09