Mutagenetix > Incidental Mutation

Incidental Mutation 'R7986:Krt28'

651495

Institutional Source

Beutler Lab

Gene Symbol

Krt28

Ensembl Gene

ENSMUSG00000055937

Gene Name

keratin 28

Synonyms

4733401L19Rik

MMRRC Submission

046027-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R7986 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99255698-99265729 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99257651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 397 (N397D)

Ref Sequence

ENSEMBL: ENSMUSP00000006963 (fasta)

Gene Model

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

AlphaFold

A6BLY7

Predicted Effect

probably benign
Transcript: ENSMUST00000006963
AA Change: N397D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000006963
Gene: ENSMUSG00000055937
AA Change: N397D

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	G	T	16: 85,596,435 (GRCm39)	A401D	probably damaging	Het
Akap10	C	T	11: 61,820,890 (GRCm39)	G5R	probably damaging	Het
Arhgap21	A	C	2: 20,867,967 (GRCm39)	L1023W	probably damaging	Het
Bpifb4	A	G	2: 153,799,650 (GRCm39)	N339S	probably benign	Het
Btbd17	A	G	11: 114,683,341 (GRCm39)	Y124H	probably damaging	Het
Cacna1a	C	G	8: 85,365,408 (GRCm39)	R2184G	probably benign	Het
Cavin1	A	G	11: 100,861,102 (GRCm39)	I64T	probably damaging	Het
Cby3	A	G	11: 50,250,106 (GRCm39)	H9R	possibly damaging	Het
Ccdc141	A	G	2: 76,845,461 (GRCm39)	L1202P	probably benign	Het
Cd109	A	G	9: 78,596,048 (GRCm39)	I794V	possibly damaging	Het
Col12a1	C	T	9: 79,511,674 (GRCm39)		probably null	Het
Col6a2	A	G	10: 76,450,972 (GRCm39)	L23P	probably benign	Het
Csf1r	A	G	18: 61,247,904 (GRCm39)	H324R	probably benign	Het
D430041D05Rik	A	G	2: 104,087,096 (GRCm39)	S627P	probably damaging	Het
Dffb	G	A	4: 154,054,504 (GRCm39)	S195F	probably damaging	Het
Fstl5	T	A	3: 76,337,097 (GRCm39)	Y219N	probably damaging	Het
Gm29106	A	T	1: 118,128,000 (GRCm39)	H564L	possibly damaging	Het
Gpt2	T	A	8: 86,235,839 (GRCm39)	C158*	probably null	Het
Grin1	G	T	2: 25,185,841 (GRCm39)	A872D	probably damaging	Het
Hoxa1	T	C	6: 52,135,018 (GRCm39)	S62G	probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Llgl1	G	T	11: 60,602,221 (GRCm39)	A755S	probably benign	Het
Lmod2	A	G	6: 24,603,448 (GRCm39)	E141G	possibly damaging	Het
Loxhd1	A	T	18: 77,462,890 (GRCm39)	T910S	possibly damaging	Het
Masp2	A	G	4: 148,687,283 (GRCm39)	Y55C	probably damaging	Het
Nek10	A	C	14: 15,001,020 (GRCm38)	S1067R	probably benign	Het
Nemp2	C	T	1: 52,669,981 (GRCm39)	A22V	probably benign	Het
Npy2r	T	A	3: 82,448,803 (GRCm39)		probably null	Het
Nr1h4	A	T	10: 89,290,634 (GRCm39)	S469T	possibly damaging	Het
Nr4a3	T	C	4: 48,055,954 (GRCm39)	Y327H	probably damaging	Het
Or10ag52	A	G	2: 87,043,922 (GRCm39)	I229V	probably benign	Het
Or5an1b	C	T	19: 12,300,102 (GRCm39)	V30I	probably benign	Het
Pramel26	A	T	4: 143,538,590 (GRCm39)	L127*	probably null	Het
Prss1l	T	C	6: 41,373,058 (GRCm39)	I110T	probably damaging	Het
Ptpdc1	G	A	13: 48,746,046 (GRCm39)	A118V	probably damaging	Het
Raph1	T	C	1: 60,535,445 (GRCm39)	Y73C		Het
Rtl1	A	G	12: 109,558,492 (GRCm39)	S1116P	possibly damaging	Het
Secisbp2	T	C	13: 51,819,395 (GRCm39)	I325T	probably damaging	Het
Setd5	T	C	6: 113,105,418 (GRCm39)	S817P	probably benign	Het
Sirt6	A	G	10: 81,458,344 (GRCm39)	L303P	probably benign	Het
Slc46a2	G	T	4: 59,911,858 (GRCm39)	F451L	probably benign	Het
Sorbs1	T	A	19: 40,353,449 (GRCm39)	I219F	probably damaging	Het
Tmem178	A	G	17: 81,308,273 (GRCm39)	I223V	possibly damaging	Het
Trps1	T	G	15: 50,525,132 (GRCm39)	T933P	probably damaging	Het
Trps1	A	G	15: 50,753,019 (GRCm39)	F16S	probably benign	Het
Virma	T	A	4: 11,540,023 (GRCm39)	S1447R	probably benign	Het
Vmn1r230	T	C	17: 21,067,119 (GRCm39)	Y103H	probably damaging	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Ybx3	T	A	6: 131,356,362 (GRCm39)	R170*	probably null	Het
Zfp423	T	C	8: 88,506,978 (GRCm39)	D1122G	probably benign	Het

Other mutations in Krt28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01374:Krt28	APN	11	99,262,294 (GRCm39)	missense	probably benign	0.00
IGL01568:Krt28	APN	11	99,262,243 (GRCm39)	missense	probably damaging	1.00
IGL01590:Krt28	APN	11	99,265,220 (GRCm39)	critical splice donor site	probably null
R1250:Krt28	UTSW	11	99,257,648 (GRCm39)	critical splice donor site	probably null
R1488:Krt28	UTSW	11	99,255,997 (GRCm39)	missense	probably benign	0.01
R2116:Krt28	UTSW	11	99,255,943 (GRCm39)	missense	probably benign	0.27
R4244:Krt28	UTSW	11	99,265,376 (GRCm39)	missense	probably damaging	1.00
R4862:Krt28	UTSW	11	99,255,936 (GRCm39)	missense	possibly damaging	0.92
R4928:Krt28	UTSW	11	99,265,458 (GRCm39)	missense	probably benign	0.00
R5035:Krt28	UTSW	11	99,257,650 (GRCm39)	missense	probably benign	0.00
R5568:Krt28	UTSW	11	99,262,210 (GRCm39)	missense	probably damaging	1.00
R5642:Krt28	UTSW	11	99,265,320 (GRCm39)	missense	probably damaging	1.00
R5873:Krt28	UTSW	11	99,257,716 (GRCm39)	missense	probably damaging	1.00
R6053:Krt28	UTSW	11	99,262,027 (GRCm39)	missense	probably benign	0.05
R6548:Krt28	UTSW	11	99,257,839 (GRCm39)	missense	probably damaging	1.00
R7194:Krt28	UTSW	11	99,265,230 (GRCm39)	nonsense	probably null
R7863:Krt28	UTSW	11	99,255,999 (GRCm39)	missense	possibly damaging	0.65
R8415:Krt28	UTSW	11	99,265,626 (GRCm39)	missense	probably benign
R9710:Krt28	UTSW	11	99,255,921 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAGCAGATTGGGGTCAGG -3'
(R):5'- TGCTAAGTAACTCAGGGCTGG -3'

Sequencing Primer
(F):5'- CAGTGCTTAACATGGATGGTAATG -3'
(R):5'- CTGGGTACTCCTCTGGTGAC -3'

Posted On

2020-09-15