Mutagenetix > Incidental Mutation

Incidental Mutation 'R4716:Krt40'

354056

Institutional Source

Beutler Lab

Gene Symbol

Krt40

Ensembl Gene

ENSMUSG00000059169

Gene Name

keratin 40

Synonyms

Ka36

MMRRC Submission

041983-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R4716 (G1)

Quality Score

172

Status

Not validated

Chromosome

Chromosomal Location

99428311-99433984 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99431045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 155 (R155C)

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: R235C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000073869
Gene: ENSMUSG00000059169
AA Change: R235C

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: R155C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103067
Gene: ENSMUSG00000059169
AA Change: R155C

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

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,471,088 (GRCm39)	R578*	probably null	Het
Adam8	T	A	7: 139,563,851 (GRCm39)	D717V	probably benign	Het
Aknad1	T	C	3: 108,682,417 (GRCm39)		probably null	Het
Alk	A	T	17: 72,512,937 (GRCm39)	W341R	probably damaging	Het
Ankdd1b	G	A	13: 96,591,091 (GRCm39)	Q101*	probably null	Het
Anpep	A	C	7: 79,476,380 (GRCm39)	S829A	probably benign	Het
Armh3	A	G	19: 45,948,781 (GRCm39)	S233P	probably damaging	Het
Ate1	A	T	7: 130,115,511 (GRCm39)	C72S	probably damaging	Het
Atp6v0a4	G	A	6: 38,037,999 (GRCm39)	L533F	probably damaging	Het
Bach1	T	C	16: 87,512,267 (GRCm39)		probably benign	Het
Baz2b	T	C	2: 59,799,599 (GRCm39)	D240G	probably benign	Het
Cdc14b	C	T	13: 64,357,014 (GRCm39)	S21N	probably damaging	Het
Cdh3	A	G	8: 107,270,520 (GRCm39)	I466V	probably benign	Het
Cog1	A	G	11: 113,547,923 (GRCm39)	E137G	probably damaging	Het
Col4a2	A	G	8: 11,452,224 (GRCm39)	D180G	probably damaging	Het
Cyp2c40	A	T	19: 39,791,105 (GRCm39)		probably null	Het
Dclk2	C	T	3: 86,827,188 (GRCm39)	R97H	probably damaging	Het
Ddx52	T	C	11: 83,846,031 (GRCm39)		probably null	Het
Dhx58	C	T	11: 100,587,797 (GRCm39)		probably null	Het
Dmp1	T	A	5: 104,360,427 (GRCm39)	S368T	probably damaging	Het
Dnah17	C	A	11: 117,964,474 (GRCm39)	V2435L	probably benign	Het
Dnajc7	A	G	11: 100,510,402 (GRCm39)	V10A	probably benign	Het
Dscam	G	T	16: 96,420,771 (GRCm39)	T1705K	possibly damaging	Het
Dscaml1	G	A	9: 45,361,890 (GRCm39)	V217M	probably damaging	Het
Dync2h1	A	G	9: 7,142,648 (GRCm39)		probably null	Het
F5	A	G	1: 164,021,488 (GRCm39)	D1321G	probably damaging	Het
Fam174a	C	T	1: 95,241,770 (GRCm39)	P77S	probably benign	Het
Fars2	G	A	13: 36,389,051 (GRCm39)	R180H	probably damaging	Het
Fnbp1	T	C	2: 30,945,532 (GRCm39)	T154A	probably benign	Het
Fsip2	T	A	2: 82,805,203 (GRCm39)	N507K	probably damaging	Het
Glg1	G	T	8: 111,887,407 (GRCm39)	Y449*	probably null	Het
Gm15130	A	T	2: 110,964,560 (GRCm39)	Y187*	probably null	Het
Gm973	A	T	1: 59,591,713 (GRCm39)	K366*	probably null	Het
H2bc11	T	A	13: 22,227,533 (GRCm39)	V45E	possibly damaging	Het
Hao1	A	G	2: 134,347,540 (GRCm39)	I255T	probably damaging	Het
Herc6	T	A	6: 57,575,423 (GRCm39)	V148E	probably damaging	Het
Insm2	T	A	12: 55,647,677 (GRCm39)	C474S	possibly damaging	Het
Itch	T	C	2: 155,052,502 (GRCm39)		probably null	Het
Itga2	A	G	13: 114,993,909 (GRCm39)	V748A	probably damaging	Het
Itga9	T	A	9: 118,510,826 (GRCm39)	S452T	probably damaging	Het
Kdm4b	C	A	17: 56,693,178 (GRCm39)	D338E	probably benign	Het
Krtap16-1	A	G	11: 99,876,000 (GRCm39)	V468A	probably damaging	Het
Lactb2	G	A	1: 13,708,619 (GRCm39)	P143L	probably damaging	Het
Lrba	C	A	3: 86,550,021 (GRCm39)	T2330K	probably damaging	Het
Lrp2bp	A	T	8: 46,466,208 (GRCm39)	I106F	probably benign	Het
Luzp2	A	G	7: 54,485,710 (GRCm39)	K2E	probably damaging	Het
Lypd6	T	C	2: 50,078,855 (GRCm39)		probably null	Het
Maml1	A	T	11: 50,148,694 (GRCm39)	D1015E	probably benign	Het
Mdfi	T	G	17: 48,131,906 (GRCm39)	D106A	possibly damaging	Het
Olfm3	T	C	3: 114,874,755 (GRCm39)	M17T	probably benign	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or2o1	A	G	11: 49,051,717 (GRCm39)	Y292C	probably damaging	Het
Or8c16	T	A	9: 38,130,714 (GRCm39)	N198K	probably damaging	Het
Or8g30	A	G	9: 39,230,725 (GRCm39)	F62L	probably benign	Het
Otud7b	T	G	3: 96,058,227 (GRCm39)	L261V	probably damaging	Het
P2ry1	A	G	3: 60,910,893 (GRCm39)	N11D	probably damaging	Het
Pate2	T	C	9: 35,596,978 (GRCm39)		probably benign	Het
Pcdhb16	A	T	18: 37,612,458 (GRCm39)	T473S	probably benign	Het
Per1	A	G	11: 68,992,057 (GRCm39)	E137G	probably damaging	Het
Phf11d	T	C	14: 59,590,791 (GRCm39)	T189A	probably benign	Het
Pik3r5	C	A	11: 68,386,030 (GRCm39)	S738R	possibly damaging	Het
Pikfyve	A	G	1: 65,285,635 (GRCm39)	Y913C	possibly damaging	Het
Pkd1	T	G	17: 24,795,107 (GRCm39)	S2265A	probably damaging	Het
Pkhd1l1	C	A	15: 44,419,428 (GRCm39)	N2964K	probably damaging	Het
Plch1	T	G	3: 63,688,967 (GRCm39)	D79A	probably damaging	Het
Pnliprp1	A	C	19: 58,728,901 (GRCm39)	T363P	possibly damaging	Het
Ppp1r10	T	A	17: 36,240,352 (GRCm39)	D547E	probably benign	Het
Prkdc	T	A	16: 15,628,701 (GRCm39)	I3482K	probably benign	Het
Ptpn4	A	G	1: 119,649,598 (GRCm39)	Y333H	probably damaging	Het
Ptpru	T	A	4: 131,548,279 (GRCm39)	M73L	probably benign	Het
Rrp12	A	G	19: 41,865,867 (GRCm39)	Y698H	probably damaging	Het
Scaf8	T	C	17: 3,227,398 (GRCm39)	F338L	unknown	Het
Slc17a1	G	T	13: 24,064,576 (GRCm39)	V347L	probably benign	Het
Slc1a2	T	A	2: 102,578,883 (GRCm39)	V263E	probably damaging	Het
Slc29a4	T	C	5: 142,704,327 (GRCm39)	V327A	probably benign	Het
Slc6a3	A	C	13: 73,705,195 (GRCm39)	I229L	probably benign	Het
Sos2	T	C	12: 69,654,145 (GRCm39)	I703V	probably benign	Het
Srpk1	T	C	17: 28,840,982 (GRCm39)	T15A	probably benign	Het
St6gal2	A	T	17: 55,817,367 (GRCm39)	Q510L	probably benign	Het
Stk24	T	C	14: 121,532,130 (GRCm39)	D289G	possibly damaging	Het
Taf2	T	G	15: 54,929,364 (GRCm39)	K64T	probably benign	Het
Tbx3	A	G	5: 119,813,735 (GRCm39)	E257G	possibly damaging	Het
Tmem102	A	T	11: 69,695,022 (GRCm39)	F317I	probably damaging	Het
Trav10	A	G	14: 53,743,497 (GRCm39)	S33G	possibly damaging	Het
Ttn	T	A	2: 76,745,408 (GRCm39)	I5214F	probably damaging	Het
Ube2f	T	A	1: 91,182,002 (GRCm39)	L2Q	probably damaging	Het
Ube4b	A	G	4: 149,429,069 (GRCm39)	F857L	probably damaging	Het
Vmn2r18	T	A	5: 151,485,602 (GRCm39)	I631F	possibly damaging	Het
Zfp280d	T	A	9: 72,219,947 (GRCm39)	S241T	possibly damaging	Het
Zfp638	T	A	6: 83,956,544 (GRCm39)	L1717*	probably null	Het
Zfp719	A	G	7: 43,240,535 (GRCm39)	N708D	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- GAAGCCAGTCCTTTACCGAG -3'
(R):5'- ATAACTGTAGCTCCGTGTGGC -3'

Sequencing Primer
(F):5'- TCCTTTACCGAGGGCACTGAC -3'
(R):5'- TAGCTCCGTGTGGCATACAG -3'

Posted On

2015-10-21