Mutagenetix > Incidental Mutation

Incidental Mutation 'R7032:Krt84'

546411

Institutional Source

Beutler Lab

Gene Symbol

Krt84

Ensembl Gene

ENSMUSG00000044294

Gene Name

keratin 84

Synonyms

Krt2-16, Krt2-3, HRb-1

MMRRC Submission

045133-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

R7032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101433461-101441255 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101436924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 370 (E370G)

Ref Sequence

ENSEMBL: ENSMUSP00000023720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023720]

AlphaFold

Q99M73

Predicted Effect

probably benign
Transcript: ENSMUST00000023720
AA Change: E370G

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000023720
Gene: ENSMUSG00000044294
AA Change: E370G

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	16	169	3.9e-39	PFAM
Filament	172	483	4.05e-163	SMART
low complexity region	535	560	N/A	INTRINSIC
low complexity region	574	602	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin is contained primarily in the filiform tongue papilla, among other hair keratins. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,120,438 (GRCm39)	D398E	possibly damaging	Het
Adam34	T	C	8: 44,105,303 (GRCm39)	Y114C	probably damaging	Het
Akap9	T	A	5: 4,004,896 (GRCm39)	D156E	probably benign	Het
Apba1	T	A	19: 23,889,825 (GRCm39)	S408T	probably benign	Het
Asb14	C	T	14: 26,625,412 (GRCm39)	H256Y	probably benign	Het
Atf6	A	T	1: 170,627,181 (GRCm39)		probably null	Het
Atp6v1b2	T	A	8: 69,541,548 (GRCm39)	V35E	probably benign	Het
Atp8a2	T	C	14: 60,255,289 (GRCm39)		probably null	Het
Ccdc170	C	A	10: 4,432,597 (GRCm39)	P12Q	unknown	Het
Cdh23	C	T	10: 60,167,567 (GRCm39)	E1810K	probably damaging	Het
Cdo1	A	T	18: 46,853,475 (GRCm39)	F94L	probably damaging	Het
Cfap96	T	G	8: 46,409,474 (GRCm39)	S282R	probably damaging	Het
Chdh	C	T	14: 29,758,809 (GRCm39)	P585S	possibly damaging	Het
Clasp2	A	G	9: 113,683,391 (GRCm39)	N407S	probably benign	Het
Clca3a1	T	A	3: 144,453,329 (GRCm39)	S465C	probably benign	Het
Clip2	C	A	5: 134,551,484 (GRCm39)	V213L	probably damaging	Het
Col6a6	A	G	9: 105,644,707 (GRCm39)	S1194P	probably damaging	Het
Cyp7a1	T	C	4: 6,268,463 (GRCm39)	T421A	possibly damaging	Het
Dhh	C	T	15: 98,791,907 (GRCm39)	G367E	possibly damaging	Het
Dnah5	A	G	15: 28,326,796 (GRCm39)	N2002D	probably damaging	Het
Epn2	T	A	11: 61,437,528 (GRCm39)	N15Y	probably damaging	Het
Evi5	A	C	5: 107,936,147 (GRCm39)	V647G	probably benign	Het
Eya1	T	C	1: 14,353,424 (GRCm39)		probably null	Het
Fam120a	A	G	13: 49,102,589 (GRCm39)	V222A	probably benign	Het
Fastkd5	A	T	2: 130,457,864 (GRCm39)	I242K	possibly damaging	Het
Hnrnpul1	A	G	7: 25,450,319 (GRCm39)	M131T	probably benign	Het
Ice1	T	C	13: 70,744,283 (GRCm39)	N2100S	probably damaging	Het
Ifi205	T	A	1: 173,855,916 (GRCm39)	D38V	possibly damaging	Het
Klhl9	G	A	4: 88,639,843 (GRCm39)	Q133*	probably null	Het
Lrrc4c	T	C	2: 97,459,410 (GRCm39)	I12T	probably benign	Het
Lrriq4	T	A	3: 30,709,850 (GRCm39)	L398*	probably null	Het
Ltf	G	A	9: 110,855,198 (GRCm39)		probably null	Het
Macf1	C	T	4: 123,366,101 (GRCm39)	V1322I	probably benign	Het
Mark2	T	A	19: 7,264,698 (GRCm39)	I112L	probably damaging	Het
Mettl25b	A	G	3: 87,831,649 (GRCm39)		probably null	Het
Mterf2	A	T	10: 84,956,527 (GRCm39)	C32*	probably null	Het
Myo3b	C	T	2: 69,925,608 (GRCm39)	T25I	probably damaging	Het
Nsun7	A	C	5: 66,421,378 (GRCm39)	I115L	probably benign	Het
Olfm3	G	A	3: 114,883,805 (GRCm39)	V36M	probably damaging	Het
Or1p1c	T	C	11: 74,160,428 (GRCm39)	I71T	possibly damaging	Het
Or5d44	T	C	2: 88,141,373 (GRCm39)	T256A	probably benign	Het
Or8b3	A	T	9: 38,314,965 (GRCm39)	Y262F	possibly damaging	Het
Or8g18	A	T	9: 39,148,983 (GRCm39)	S246T	possibly damaging	Het
Pcdhgb8	A	T	18: 37,896,962 (GRCm39)	R677S	probably benign	Het
Prrt4	A	C	6: 29,170,538 (GRCm39)	L638R	possibly damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rab44	T	C	17: 29,359,438 (GRCm39)	F542S	unknown	Het
Rhobtb3	T	A	13: 76,020,513 (GRCm39)	E596D	probably benign	Het
Rpl36	T	C	17: 56,920,944 (GRCm39)	I44T	probably benign	Het
Rptor	A	G	11: 119,737,762 (GRCm39)	I112V	probably benign	Het
Rxfp2	T	C	5: 149,993,813 (GRCm39)	I611T	probably damaging	Het
Slc12a4	G	T	8: 106,675,865 (GRCm39)	N553K	probably damaging	Het
Spata31d1d	T	A	13: 59,876,046 (GRCm39)	R496S	probably benign	Het
Strbp	T	C	2: 37,493,125 (GRCm39)	D387G	possibly damaging	Het
Tas2r107	A	T	6: 131,636,153 (GRCm39)	C299S	possibly damaging	Het
Tbc1d21	A	T	9: 58,274,134 (GRCm39)		probably null	Het
Tdrd12	A	T	7: 35,180,471 (GRCm39)	Y847*	probably null	Het
Tlr2	A	T	3: 83,745,212 (GRCm39)	N290K	probably benign	Het
Tmppe	A	G	9: 114,234,858 (GRCm39)	T386A	probably damaging	Het
Tnks1bp1	C	A	2: 84,892,297 (GRCm39)	H741Q	probably benign	Het
Trpc6	G	A	9: 8,609,951 (GRCm39)	V140M	probably damaging	Het
Ttn	T	C	2: 76,641,932 (GRCm39)	D13427G	probably damaging	Het
Uba7	C	A	9: 107,853,371 (GRCm39)	L106I	possibly damaging	Het
Unc5b	T	G	10: 60,614,587 (GRCm39)	T237P	probably damaging	Het
Vit	A	C	17: 78,932,294 (GRCm39)	D467A	probably damaging	Het
Vmn1r103	T	C	7: 20,243,780 (GRCm39)	Y227C	possibly damaging	Het
Vmn1r77	T	A	7: 11,776,017 (GRCm39)	Y196*	probably null	Het
Zhx3	A	G	2: 160,622,898 (GRCm39)	V423A	probably damaging	Het

Other mutations in Krt84

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Krt84	APN	15	101,437,170 (GRCm39)	missense	probably damaging	1.00
IGL00227:Krt84	APN	15	101,436,208 (GRCm39)	missense	probably benign	0.08
IGL01352:Krt84	APN	15	101,437,209 (GRCm39)	missense	probably damaging	1.00
IGL01523:Krt84	APN	15	101,437,179 (GRCm39)	missense	probably damaging	1.00
IGL01797:Krt84	APN	15	101,436,915 (GRCm39)	missense	possibly damaging	0.93
IGL01874:Krt84	APN	15	101,436,239 (GRCm39)	missense	probably damaging	1.00
IGL02044:Krt84	APN	15	101,436,931 (GRCm39)	missense	probably damaging	1.00
IGL02183:Krt84	APN	15	101,440,791 (GRCm39)	missense	unknown
IGL02455:Krt84	APN	15	101,434,170 (GRCm39)	missense	unknown
IGL03023:Krt84	APN	15	101,436,880 (GRCm39)	missense	possibly damaging	0.74
R0102:Krt84	UTSW	15	101,437,138 (GRCm39)	missense	probably damaging	0.99
R0102:Krt84	UTSW	15	101,437,138 (GRCm39)	missense	probably damaging	0.99
R0103:Krt84	UTSW	15	101,438,671 (GRCm39)	missense	probably damaging	1.00
R0423:Krt84	UTSW	15	101,437,155 (GRCm39)	missense	probably damaging	1.00
R0704:Krt84	UTSW	15	101,441,112 (GRCm39)	missense	probably benign	0.00
R1500:Krt84	UTSW	15	101,438,659 (GRCm39)	missense	probably damaging	0.99
R1647:Krt84	UTSW	15	101,434,398 (GRCm39)	missense	possibly damaging	0.95
R1650:Krt84	UTSW	15	101,434,398 (GRCm39)	missense	possibly damaging	0.95
R1651:Krt84	UTSW	15	101,434,398 (GRCm39)	missense	possibly damaging	0.95
R1652:Krt84	UTSW	15	101,434,398 (GRCm39)	missense	possibly damaging	0.95
R1731:Krt84	UTSW	15	101,434,398 (GRCm39)	missense	possibly damaging	0.95
R1999:Krt84	UTSW	15	101,438,019 (GRCm39)	missense	possibly damaging	0.76
R2106:Krt84	UTSW	15	101,439,301 (GRCm39)	missense	probably damaging	1.00
R2150:Krt84	UTSW	15	101,438,019 (GRCm39)	missense	possibly damaging	0.76
R2212:Krt84	UTSW	15	101,440,973 (GRCm39)	missense	probably benign	0.01
R2397:Krt84	UTSW	15	101,438,689 (GRCm39)	missense	probably benign	0.18
R4722:Krt84	UTSW	15	101,436,846 (GRCm39)	missense	probably damaging	1.00
R4926:Krt84	UTSW	15	101,438,689 (GRCm39)	missense	probably benign	0.18
R5634:Krt84	UTSW	15	101,437,084 (GRCm39)	missense	probably benign	0.30
R5807:Krt84	UTSW	15	101,438,647 (GRCm39)	missense	probably damaging	1.00
R5978:Krt84	UTSW	15	101,438,665 (GRCm39)	missense	probably damaging	1.00
R6524:Krt84	UTSW	15	101,441,187 (GRCm39)	missense	unknown
R7155:Krt84	UTSW	15	101,440,689 (GRCm39)	missense	probably damaging	1.00
R7159:Krt84	UTSW	15	101,438,044 (GRCm39)	nonsense	probably null
R7882:Krt84	UTSW	15	101,436,826 (GRCm39)	missense	probably benign	0.04
R8492:Krt84	UTSW	15	101,438,051 (GRCm39)	missense	probably damaging	1.00
R8886:Krt84	UTSW	15	101,437,221 (GRCm39)	missense	possibly damaging	0.72
R8944:Krt84	UTSW	15	101,437,183 (GRCm39)	missense	probably benign	0.27
R9076:Krt84	UTSW	15	101,438,098 (GRCm39)	missense	probably damaging	0.96
R9081:Krt84	UTSW	15	101,440,814 (GRCm39)	missense	unknown
R9082:Krt84	UTSW	15	101,440,814 (GRCm39)	missense	unknown
R9141:Krt84	UTSW	15	101,440,974 (GRCm39)	missense	probably benign
R9535:Krt84	UTSW	15	101,438,016 (GRCm39)	critical splice donor site	probably null
Z1177:Krt84	UTSW	15	101,434,417 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AACTTGGTGCTCCTCAAAGC -3'
(R):5'- TCATAGCTGAAGTCAAGGCACAG -3'

Sequencing Primer
(F):5'- TGCTCCTCAAAGCCAGGG -3'
(R):5'- CTGAAGTCAAGGCACAGTATGAG -3'

Posted On

2019-05-13