Mutagenetix > Incidental Mutation

Incidental Mutation 'R6902:Krt79'

538615

Institutional Source

Beutler Lab

Gene Symbol

Krt79

Ensembl Gene

ENSMUSG00000061397

Gene Name

keratin 79

Synonyms

MMRRC Submission

045032-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6902 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101837767-101848759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101840314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 294 (N294S)

Ref Sequence

ENSEMBL: ENSMUSP00000023799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023799]

AlphaFold

Q8VED5

Predicted Effect

probably benign
Transcript: ENSMUST00000023799
AA Change: N294S

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000023799
Gene: ENSMUSG00000061397
AA Change: N294S

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	15	98	6.6e-11	PFAM
Pfam:Keratin_2_head	73	135	1.2e-21	PFAM
Filament	138	452	7.12e-159	SMART
low complexity region	474	500	N/A	INTRINSIC
low complexity region	519	530	N/A	INTRINSIC

Meta Mutation Damage Score

0.0672

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. This gene encodes an epithelial keratin that is expressed in skeletal muscle, skin and scalp. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	C	G	13: 119,624,680 (GRCm39)		probably benign	Het
Abcc9	T	A	6: 142,624,953 (GRCm39)	S481C	probably damaging	Het
Adgrl3	C	A	5: 81,837,434 (GRCm39)	S773R	probably damaging	Het
Alkbh5	G	A	11: 60,429,381 (GRCm39)	A45T	probably benign	Het
Ankrd6	C	A	4: 32,806,419 (GRCm39)	Q576H	probably damaging	Het
Ankrd6	T	A	4: 32,806,420 (GRCm39)	Q576L	probably damaging	Het
Carmil1	T	C	13: 24,299,528 (GRCm39)	N332S	possibly damaging	Het
Cc2d2b	A	G	19: 40,804,733 (GRCm39)	Q1250R	possibly damaging	Het
Chd9	A	C	8: 91,769,579 (GRCm39)	N2539T	probably damaging	Het
Clec4b2	C	T	6: 123,177,987 (GRCm39)	Q101*	probably null	Het
Clstn2	A	T	9: 97,351,875 (GRCm39)	F517I	probably damaging	Het
Cog2	A	G	8: 125,273,430 (GRCm39)	K590E	probably damaging	Het
Coq9	G	A	8: 95,577,180 (GRCm39)	E182K	probably benign	Het
Fcgbpl1	C	T	7: 27,836,638 (GRCm39)	R186C	probably damaging	Het
Focad	C	T	4: 88,148,713 (GRCm39)	R477C	unknown	Het
Gja10	G	T	4: 32,601,905 (GRCm39)	H160N	probably damaging	Het
Gpr132	T	A	12: 112,815,830 (GRCm39)	Y332F	probably benign	Het
Herc2	A	G	7: 55,785,234 (GRCm39)	T1495A	probably benign	Het
Hivep3	T	A	4: 119,953,192 (GRCm39)	S503T	possibly damaging	Het
Ifi44	A	T	3: 151,451,536 (GRCm39)	I190N	possibly damaging	Het
Igf1r	T	A	7: 67,653,911 (GRCm39)	C150S	probably damaging	Het
Ighv1-42	T	A	12: 114,901,155 (GRCm39)	N4Y	possibly damaging	Het
Klra9	T	A	6: 130,156,003 (GRCm39)	I251F	probably benign	Het
Lama2	T	G	10: 26,857,625 (GRCm39)	T3075P	probably damaging	Het
Lrfn1	T	G	7: 28,159,238 (GRCm39)	C386G	probably benign	Het
Lrp2	T	C	2: 69,289,847 (GRCm39)	D3664G	probably damaging	Het
Mfsd3	T	A	15: 76,587,349 (GRCm39)	M344K	probably damaging	Het
Mier2	C	A	10: 79,376,673 (GRCm39)		probably benign	Het
Mmp2	G	A	8: 93,563,545 (GRCm39)	V340M	probably damaging	Het
Mrgprb3	T	A	7: 48,293,447 (GRCm39)	I35F	probably benign	Het
Myo5b	A	T	18: 74,809,756 (GRCm39)	I613F	possibly damaging	Het
Nicol1	G	A	5: 34,140,923 (GRCm39)		probably benign	Het
Or14c43	T	A	7: 86,114,995 (GRCm39)	C125*	probably null	Het
Or51f1e	A	T	7: 102,747,562 (GRCm39)	I205F	probably benign	Het
Or7d11	A	T	9: 19,966,670 (GRCm39)	L30M	possibly damaging	Het
Or8g30	C	A	9: 39,230,315 (GRCm39)	L198F	probably damaging	Het
Pan2	A	G	10: 128,151,506 (GRCm39)	T867A	probably benign	Het
Papolb	T	A	5: 142,513,906 (GRCm39)	H579L	probably benign	Het
Pcf11	C	A	7: 92,307,507 (GRCm39)	G887V	probably damaging	Het
Pdzd8	A	G	19: 59,289,829 (GRCm39)	S524P	possibly damaging	Het
Pole3	T	C	4: 62,442,300 (GRCm39)		probably benign	Het
Prdm14	C	T	1: 13,192,645 (GRCm39)	V365I	probably benign	Het
Shank1	T	A	7: 44,006,239 (GRCm39)	F1985L	probably benign	Het
Slc13a1	T	C	6: 24,097,665 (GRCm39)	I421V	possibly damaging	Het
Slc2a6	C	T	2: 26,913,172 (GRCm39)	V374M	probably benign	Het
Spata1	A	T	3: 146,181,078 (GRCm39)	N293K	possibly damaging	Het
Stk40	T	A	4: 126,031,605 (GRCm39)	D366E	probably benign	Het
Tas2r117	T	C	6: 132,780,288 (GRCm39)	L142S	probably damaging	Het
Tomm70a	T	C	16: 56,958,444 (GRCm39)	S266P	probably damaging	Het
Trgv1	T	C	13: 19,524,190 (GRCm39)	L2P	probably benign	Het
Vipr2	A	T	12: 116,102,819 (GRCm39)	T310S	possibly damaging	Het
Vti1a	A	T	19: 55,487,673 (GRCm39)		probably null	Het
Zfp961	A	G	8: 72,722,522 (GRCm39)	K345R	probably damaging	Het

Other mutations in Krt79

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00516:Krt79	APN	15	101,848,601 (GRCm39)	missense	probably damaging	0.98
IGL00546:Krt79	APN	15	101,838,308 (GRCm39)	missense	probably benign	0.00
IGL01595:Krt79	APN	15	101,840,206 (GRCm39)	missense	probably damaging	0.98
IGL02193:Krt79	APN	15	101,848,340 (GRCm39)	missense	possibly damaging	0.59
R0639:Krt79	UTSW	15	101,839,983 (GRCm39)	nonsense	probably null
R0980:Krt79	UTSW	15	101,846,442 (GRCm39)	missense	probably damaging	1.00
R1839:Krt79	UTSW	15	101,846,373 (GRCm39)	missense	possibly damaging	0.81
R4624:Krt79	UTSW	15	101,848,241 (GRCm39)	missense	possibly damaging	0.92
R4745:Krt79	UTSW	15	101,839,119 (GRCm39)	missense	probably damaging	1.00
R5203:Krt79	UTSW	15	101,838,175 (GRCm39)	missense	unknown
R5382:Krt79	UTSW	15	101,839,875 (GRCm39)	missense	probably benign	0.09
R5568:Krt79	UTSW	15	101,838,220 (GRCm39)	missense	probably damaging	0.99
R6916:Krt79	UTSW	15	101,844,605 (GRCm39)	missense	probably benign	0.01
R6998:Krt79	UTSW	15	101,846,307 (GRCm39)	missense	probably benign
R7009:Krt79	UTSW	15	101,839,876 (GRCm39)	missense	probably damaging	1.00
R7663:Krt79	UTSW	15	101,840,278 (GRCm39)	missense	probably damaging	0.97
R8161:Krt79	UTSW	15	101,839,137 (GRCm39)	missense	probably damaging	0.96
R8184:Krt79	UTSW	15	101,838,187 (GRCm39)	missense	unknown
R8206:Krt79	UTSW	15	101,848,705 (GRCm39)	start gained	probably null
R8705:Krt79	UTSW	15	101,846,441 (GRCm39)	missense	probably damaging	1.00
R8993:Krt79	UTSW	15	101,839,441 (GRCm39)	intron	probably benign
R9055:Krt79	UTSW	15	101,839,922 (GRCm39)	missense	probably damaging	1.00
R9322:Krt79	UTSW	15	101,840,245 (GRCm39)	missense	possibly damaging	0.92
R9456:Krt79	UTSW	15	101,839,904 (GRCm39)	missense	probably benign	0.02
R9495:Krt79	UTSW	15	101,840,288 (GRCm39)	missense	probably damaging	1.00
R9514:Krt79	UTSW	15	101,840,288 (GRCm39)	missense	probably damaging	1.00
R9533:Krt79	UTSW	15	101,848,417 (GRCm39)	missense	possibly damaging	0.55
R9560:Krt79	UTSW	15	101,846,277 (GRCm39)	missense	probably damaging	0.99
R9705:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign
R9706:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign
R9707:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign
R9714:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign
R9750:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign
R9751:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign
R9753:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign
R9772:Krt79	UTSW	15	101,839,196 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGAGAGCTGAGTGCACCAG -3'
(R):5'- CCAGTGGTAGATTCTTTCCAGGG -3'

Sequencing Primer
(F):5'- AGGTCCCAGAGCTCTGAG -3'
(R):5'- GAGGATCCCGAGGAAGCCTAG -3'

Posted On

2018-11-06