Mutagenetix > Incidental Mutations

Incidental Mutation 'R6053:Krt28'

484258

Institutional Source

Beutler Lab

Gene Symbol

Krt28

Ensembl Gene

ENSMUSG00000055937

Gene Name

keratin 28

Synonyms

MMRRC Submission

044221-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6053 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99364872-99374903 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 99371201 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 294 (L294F)

Ref Sequence

ENSEMBL: ENSMUSP00000006963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006963]

AlphaFold

A6BLY7

Predicted Effect

probably benign
Transcript: ENSMUST00000006963
AA Change: L294F

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000006963
Gene: ENSMUSG00000055937
AA Change: L294F

Domain	Start	End	E-Value	Type
low complexity region	23	44	N/A	INTRINSIC
Filament	83	398	4.6e-144	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	G	15: 8,188,461	D785G	probably benign	Het
Abca4	T	C	3: 122,171,017	Y2158H	probably damaging	Het
Acap1	T	G	11: 69,887,070		probably null	Het
Adamts4	T	A	1: 171,252,715	I279N	possibly damaging	Het
Akap3	A	G	6: 126,866,533	E705G	probably damaging	Het
Arap3	C	A	18: 37,990,771	L398F	probably damaging	Het
BC067074	C	A	13: 113,320,726	P1102Q	possibly damaging	Het
Catsperg1	A	T	7: 29,210,814	L34*	probably null	Het
Ccdc171	T	G	4: 83,795,219	L1165R	probably damaging	Het
Ccdc3	G	A	2: 5,229,027	V221I	probably benign	Het
Cdc42ep4	T	A	11: 113,728,986	H193L	probably damaging	Het
Clcn1	G	A	6: 42,300,274	W361*	probably null	Het
Cntn2	T	C	1: 132,518,352	N832S	probably benign	Het
Col5a1	A	T	2: 28,014,377		probably benign	Het
Ctc1	T	A	11: 69,027,901	M550K	probably benign	Het
Dennd5a	T	C	7: 109,933,745	R273G	probably damaging	Het
Dnajb7	T	C	15: 81,407,299	E279G	probably benign	Het
Dopey1	G	T	9: 86,515,294	G882W	possibly damaging	Het
Dvl2	A	G	11: 70,005,993	R238G	possibly damaging	Het
Ect2l	A	T	10: 18,141,844	L629Q	probably damaging	Het
Enpp1	T	C	10: 24,657,126	D497G	possibly damaging	Het
Ep400	T	C	5: 110,755,795	M313V	probably benign	Het
Epn2	T	C	11: 61,546,497	Y83C	probably damaging	Het
Ercc3	T	G	18: 32,246,754	V338G	probably damaging	Het
Fkbp5	T	C	17: 28,428,466	I132V	probably benign	Het
Fn1	A	T	1: 71,599,290	Y1846N	probably damaging	Het
Foxg1	T	C	12: 49,385,378	L298P	possibly damaging	Het
Foxo3	G	A	10: 42,197,214	P436S	probably benign	Het
Gbx2	T	C	1: 89,930,437	T107A	probably benign	Het
Gli1	G	T	10: 127,334,315	H324N	probably damaging	Het
Gnas	T	A	2: 174,299,852	S605T	possibly damaging	Het
Ica1	C	T	6: 8,630,783	A431T	probably benign	Het
Il10ra	C	T	9: 45,256,303	D319N	probably damaging	Het
Jmjd4	T	A	11: 59,454,044	H274Q	probably damaging	Het
Ltbp3	C	A	19: 5,752,094	T766K	probably damaging	Het
Man2b2	C	A	5: 36,813,038	M841I	probably benign	Het
Mmp14	T	A	14: 54,435,890	M85K	probably benign	Het
Mmp1b	T	A	9: 7,385,031	D206V	probably benign	Het
Muc5b	T	C	7: 141,864,708	F3797S	probably benign	Het
Mug1	A	G	6: 121,865,738	D561G	probably benign	Het
Myo18a	T	A	11: 77,818,176	H471Q	probably damaging	Het
Nfkb2	A	G	19: 46,311,812	E873G	probably damaging	Het
Ngfr	G	A	11: 95,571,006	H361Y	possibly damaging	Het
Nnt	T	C	13: 119,357,509	T679A	possibly damaging	Het
Notch1	A	T	2: 26,472,912	N947K	probably benign	Het
Nrg4	A	T	9: 55,236,490	V94D	probably benign	Het
Nsd1	G	T	13: 55,293,609	C1631F	probably damaging	Het
Nutm1	T	C	2: 112,249,090	T827A	probably benign	Het
Olfr1219	T	C	2: 89,074,554	D179G	probably damaging	Het
Olfr187	A	T	16: 59,035,988	Y250N	probably damaging	Het
Olfr328	T	A	11: 58,552,066	M58L	possibly damaging	Het
Olfr414	C	A	1: 174,430,569	S47*	probably null	Het
Olfr883	TTGCTGT	TTGCTGTCTGCTGT	9: 38,026,541		probably null	Het
Orai3	C	T	7: 127,773,878	P184S	probably benign	Het
Paqr3	A	T	5: 97,111,278	S56T	probably benign	Het
Pard6b	C	T	2: 168,099,053	T320M	possibly damaging	Het
Pgs1	T	C	11: 118,001,709	S166P	probably damaging	Het
Plaa	T	C	4: 94,589,884	T114A	probably benign	Het
Plekha6	G	C	1: 133,272,307	R208P	possibly damaging	Het
Plin4	A	T	17: 56,108,618	D73E	probably benign	Het
Plxnb1	T	C	9: 109,111,707	L1550P	probably damaging	Het
Rbak	A	C	5: 143,174,682	Y205*	probably null	Het
Rgs12	T	C	5: 34,965,952	F360L	probably benign	Het
Rgs22	A	T	15: 36,100,007	D187E	probably benign	Het
Sec24d	C	T	3: 123,279,222	Q66*	probably null	Het
Sh2d5	T	A	4: 138,255,562	M85K	probably damaging	Het
Sos1	A	G	17: 80,415,034	V861A	possibly damaging	Het
Stk11ip	T	A	1: 75,534,255		probably null	Het
Svs1	A	G	6: 48,988,488	T477A	probably benign	Het
Tmem26	G	A	10: 68,748,484	E127K	probably benign	Het
Tmem41a	T	G	16: 21,934,989	T211P	possibly damaging	Het
Tmem69	T	A	4: 116,553,384	M130L	possibly damaging	Het
Trak2	C	A	1: 58,904,069	R726L	possibly damaging	Het
Vmn1r231	A	G	17: 20,889,819	I278T	probably damaging	Het
Vwf	G	A	6: 125,600,665	V490I	probably benign	Het
Wdr33	C	T	18: 31,878,063	T255I	possibly damaging	Het
Ylpm1	G	T	12: 84,996,503	W5L	possibly damaging	Het
Zfp169	A	T	13: 48,498,858	W28R	probably damaging	Het

Other mutations in Krt28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:Krt28	APN	11	99371468	missense	probably benign	0.00
IGL01568:Krt28	APN	11	99371417	missense	probably damaging	1.00
IGL01590:Krt28	APN	11	99374394	critical splice donor site	probably null
R1250:Krt28	UTSW	11	99366822	critical splice donor site	probably null
R1488:Krt28	UTSW	11	99365171	missense	probably benign	0.01
R2116:Krt28	UTSW	11	99365117	missense	probably benign	0.27
R4244:Krt28	UTSW	11	99374550	missense	probably damaging	1.00
R4862:Krt28	UTSW	11	99365110	missense	possibly damaging	0.92
R4928:Krt28	UTSW	11	99374632	missense	probably benign	0.00
R5035:Krt28	UTSW	11	99366824	missense	probably benign	0.00
R5568:Krt28	UTSW	11	99371384	missense	probably damaging	1.00
R5642:Krt28	UTSW	11	99374494	missense	probably damaging	1.00
R5873:Krt28	UTSW	11	99366890	missense	probably damaging	1.00
R6548:Krt28	UTSW	11	99367013	missense	probably damaging	1.00
R7194:Krt28	UTSW	11	99374404	nonsense	probably null
R7863:Krt28	UTSW	11	99365173	missense	possibly damaging	0.65
R7986:Krt28	UTSW	11	99366825	missense	probably benign	0.00
R8415:Krt28	UTSW	11	99374800	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCGCGAGCTCCTTTTGATAAG -3'
(R):5'- CACCGTCCTTCTGAACAACATG -3'

Sequencing Primer
(F):5'- CGAGCTCCTTTTGATAAGCATTTG -3'
(R):5'- GTCCTTCTGAACAACATGCGAGC -3'

Posted On

2017-07-14