Mutagenetix > Incidental Mutation

Incidental Mutation 'R9706:Krt79'

729824

Institutional Source

Beutler Lab

Gene Symbol

Krt79

Ensembl Gene

ENSMUSG00000061397

Gene Name

keratin 79

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9706 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101837767-101848759 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 101839196 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 424 (E424D)

Ref Sequence

ENSEMBL: ENSMUSP00000023799 (fasta)

Gene Model

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

AlphaFold

Q8VED5

Predicted Effect

probably benign
Transcript: ENSMUST00000023799
AA Change: E424D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000023799
Gene: ENSMUSG00000061397
AA Change: E424D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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
Adam20	G	A	8: 41,248,490 (GRCm39)	R200H	probably benign	Het
Atad3a	C	T	4: 155,834,929 (GRCm39)		probably null	Het
Atg16l1	T	C	1: 87,713,977 (GRCm39)	F463L	possibly damaging	Het
Camsap3	C	T	8: 3,658,689 (GRCm39)	T1209I	possibly damaging	Het
Cldn10	T	A	14: 119,099,189 (GRCm39)	M101K	probably damaging	Het
Crb2	G	A	2: 37,681,215 (GRCm39)	G686D	probably damaging	Het
Creb3	T	A	4: 43,565,520 (GRCm39)	L209*	probably null	Het
Crocc	C	A	4: 140,746,046 (GRCm39)	R1855L	possibly damaging	Het
Decr2	A	T	17: 26,302,869 (GRCm39)	M169K	probably benign	Het
Defb22	T	C	2: 152,327,820 (GRCm39)	T122A	unknown	Het
Dnaaf6rt	A	C	1: 31,262,252 (GRCm39)	E78A	possibly damaging	Het
Dnah17	A	T	11: 118,017,026 (GRCm39)	I238N	probably damaging	Het
Efcab14	T	A	4: 115,625,901 (GRCm39)	S457T	possibly damaging	Het
Ephb3	A	T	16: 21,039,193 (GRCm39)	I604F	probably damaging	Het
Fam184a	T	C	10: 53,575,249 (GRCm39)	D120G	probably damaging	Het
Fcrlb	T	A	1: 170,735,474 (GRCm39)	T267S	possibly damaging	Het
Gm15446	A	T	5: 110,091,161 (GRCm39)	Q471L	probably damaging	Het
H2-Q4	A	T	17: 35,599,129 (GRCm39)	Y133F	probably damaging	Het
H2-T24	A	T	17: 36,325,735 (GRCm39)	H285Q	probably benign	Het
Hc	A	C	2: 34,914,196 (GRCm39)	V837G	probably damaging	Het
Hmcn2	G	A	2: 31,305,279 (GRCm39)	V3151I	probably benign	Het
Inpp5e	T	A	2: 26,292,126 (GRCm39)	M311L	probably benign	Het
Inpp5j	A	G	11: 3,449,960 (GRCm39)	F644S	possibly damaging	Het
Lingo3	A	T	10: 80,670,288 (GRCm39)	F547L	probably damaging	Het
Lrrc47	T	G	4: 154,096,487 (GRCm39)	L94R	probably damaging	Het
Lrriq1	A	G	10: 102,881,902 (GRCm39)	F155S		Het
Masp2	A	G	4: 148,696,597 (GRCm39)	E398G	probably benign	Het
Mcm3ap	C	T	10: 76,312,352 (GRCm39)	S477L	probably damaging	Het
Mllt10	T	C	2: 18,151,655 (GRCm39)	V256A	possibly damaging	Het
Muc1	T	A	3: 89,138,888 (GRCm39)	I499K	probably benign	Het
Nup50	G	A	15: 84,811,648 (GRCm39)		probably null	Het
Or13a21	A	T	7: 139,999,266 (GRCm39)	I140N	probably damaging	Het
Or4p20	T	A	2: 88,253,779 (GRCm39)	M197L	probably benign	Het
Or52e18	A	G	7: 104,609,195 (GRCm39)	V248A	probably damaging	Het
Or5ar1	T	A	2: 85,671,658 (GRCm39)	H159L	probably damaging	Het
Pclo	A	T	5: 14,905,683 (GRCm39)	H4971L	unknown	Het
Pcsk1	G	T	13: 75,247,473 (GRCm39)		probably null	Het
Pik3r5	C	A	11: 68,381,426 (GRCm39)	T204N	probably benign	Het
Prrc2b	T	C	2: 32,107,300 (GRCm39)	V1621A	probably benign	Het
Ptchd4	A	G	17: 42,814,806 (GRCm39)	*902W	probably null	Het
R3hdm2	A	G	10: 127,334,298 (GRCm39)	D907G	probably benign	Het
R3hdm4	A	T	10: 79,752,655 (GRCm39)		probably null	Het
Rbpms2	C	T	9: 65,558,285 (GRCm39)	A107V	probably benign	Het
Rgs14	G	A	13: 55,531,934 (GRCm39)	E544K	probably benign	Het
Sacs	C	T	14: 61,445,822 (GRCm39)	Q2623*	probably null	Het
Sec16b	G	A	1: 157,378,695 (GRCm39)		probably null	Het
Spire1	C	T	18: 67,636,508 (GRCm39)	R386Q	probably benign	Het
Sqle	A	T	15: 59,201,625 (GRCm39)	Y492F	probably damaging	Het
Stk38l	C	T	6: 146,677,104 (GRCm39)	T427I	probably benign	Het
Tbx5	C	A	5: 119,979,909 (GRCm39)	L152I	probably benign	Het
Vmn2r101	T	C	17: 19,809,925 (GRCm39)	M237T	probably damaging	Het
Vmn2r58	A	T	7: 41,510,000 (GRCm39)	F526I	probably damaging	Het
Vwf	G	A	6: 125,601,536 (GRCm39)	R826Q		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
R6902:Krt79	UTSW	15	101,840,314 (GRCm39)	missense	probably benign	0.08
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
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'- TAGGGTTACAGATGGCCAACC -3'
(R):5'- ATGGGATGAGCCTGGATAGTATTC -3'

Sequencing Primer
(F):5'- CCCATCCAGGAAGTGAGC -3'
(R):5'- TGAGCCTGGATAGTATTCCCAATACC -3'

Posted On

2022-10-06