Mutagenetix > Incidental Mutations

Incidental Mutation 'R4819:Heca'

370061

Institutional Source

Beutler Lab

Gene Symbol

Heca

Ensembl Gene

ENSMUSG00000039879

Gene Name

hdc homolog, cell cycle regulator

Synonyms

LOC380629

MMRRC Submission

042000-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

R4819 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17868612-17948067 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17908072 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 478 (Y478H)

Ref Sequence

ENSEMBL: ENSMUSP00000040707 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037879]

Predicted Effect

probably damaging
Transcript: ENSMUST00000037879
AA Change: Y478H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000040707
Gene: ENSMUSG00000039879
AA Change: Y478H

Domain	Start	End	E-Value	Type
SCOP:d1gkub1	29	61	8e-3	SMART
Pfam:HECA	94	192	2.8e-42	PFAM
Pfam:Headcase	335	535	2.8e-86	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000217949
AA Change: Y116H

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218758

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the homolog of the Drosophila headcase protein, a highly basic, cytoplasmic protein that regulates the re-entry of imaginal cells into the mitotic cycle during adult morphogenesis. In Drosophila, the encoded protein also inhibits terminal branching of neighboring cells during tracheal development. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,290,421	N761K	possibly damaging	Het
Adgrf3	T	A	5: 30,198,444	L444F	possibly damaging	Het
Akap8	G	A	17: 32,312,305	R378W	probably damaging	Het
Amotl2	C	T	9: 102,730,071	R693W	probably damaging	Het
As3mt	G	T	19: 46,707,529		probably benign	Het
Atp6v1e2	A	G	17: 86,944,538	V144A	probably benign	Het
Bfar	C	T	16: 13,687,467	Q114*	probably null	Het
Casd1	C	T	6: 4,621,225	A261V	probably damaging	Het
Ccdc36	A	G	9: 108,406,678	V189A	probably benign	Het
Cd177	A	T	7: 24,752,271	I440K	probably damaging	Het
Cfap54	G	T	10: 92,836,477	Y2910*	probably null	Het
Csl	A	G	10: 99,758,082	F374L	possibly damaging	Het
Dctn1	G	A	6: 83,190,519	R275H	probably damaging	Het
Derl3	A	G	10: 75,893,879		probably null	Het
Dst	A	G	1: 33,968,835	I117V	probably benign	Het
Edc3	T	A	9: 57,748,397	C477S	possibly damaging	Het
Efs	T	C	14: 54,917,153	E450G	probably damaging	Het
Fcrla	T	A	1: 170,920,939	I212F	probably damaging	Het
Fsip2	A	G	2: 82,988,442	I4840V	probably benign	Het
Gm14025	G	T	2: 129,040,801	N98K	probably damaging	Het
Gpam	T	A	19: 55,078,341	I581F	probably benign	Het
Greb1l	A	G	18: 10,458,358	D45G	probably damaging	Het
Hspa9	C	T	18: 34,939,388	M561I	probably damaging	Het
Hyal6	T	A	6: 24,734,966	Y299*	probably null	Het
Ik	T	A	18: 36,753,257		probably null	Het
Khsrp	A	G	17: 57,023,360	S582P	possibly damaging	Het
Kif18a	A	G	2: 109,292,126	D182G	probably damaging	Het
Krt2	T	C	15: 101,811,544	T564A	unknown	Het
Lig4	A	G	8: 9,971,885	S632P	probably benign	Het
Med1	C	T	11: 98,155,432		probably benign	Het
Mgat3	T	A	15: 80,212,349	I459N	probably damaging	Het
Mkln1	A	T	6: 31,474,486	Q454L	probably benign	Het
Mn1	A	G	5: 111,419,937	E591G	possibly damaging	Het
Myo5c	T	A	9: 75,292,202	L1364Q	probably damaging	Het
Oas1d	T	C	5: 120,915,717	V80A	probably damaging	Het
Obscn	A	T	11: 59,038,848	D5180E	probably damaging	Het
Pax6	G	A	2: 105,692,277		probably null	Het
Pcdh15	A	C	10: 74,324,389	N446T	probably damaging	Het
Pcnx2	A	T	8: 125,855,230	F922L	probably benign	Het
Ptpn4	G	T	1: 119,659,850	T921K	probably benign	Het
Selenov	A	G	7: 28,290,321		probably null	Het
Tmem100	A	G	11: 90,035,445	T33A	probably benign	Het
Tmem59	C	T	4: 107,187,681	Q66*	probably null	Het
Trav21-dv12	T	A	14: 53,876,613	Y63*	probably null	Het
Trim66	G	T	7: 109,457,586	H1121Q	probably damaging	Het
Trim80	A	G	11: 115,447,943	Y533C	probably damaging	Het
Ttc17	G	A	2: 94,364,610	P520L	probably damaging	Het
Ttn	A	T	2: 76,791,749	V15483E	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zfhx4	C	A	3: 5,403,914	T3069K	probably benign	Het
Zfp281	A	G	1: 136,625,710	H142R	probably benign	Het
Zfp462	G	T	4: 55,060,044	R1190L	probably damaging	Het
Zfp935	T	A	13: 62,454,417	H323L	probably damaging	Het

Other mutations in Heca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Heca	APN	10	17915967	missense	probably damaging	1.00
IGL01971:Heca	APN	10	17915414	missense	probably damaging	1.00
E0374:Heca	UTSW	10	17908176	missense	probably damaging	1.00
R0089:Heca	UTSW	10	17908100	missense	probably damaging	0.99
R0218:Heca	UTSW	10	17915715	missense	probably benign	0.22
R0608:Heca	UTSW	10	17915291	missense	possibly damaging	0.86
R4131:Heca	UTSW	10	17902239	missense	probably damaging	1.00
R4132:Heca	UTSW	10	17902239	missense	probably damaging	1.00
R4674:Heca	UTSW	10	17915309	missense	probably benign	0.30
R4675:Heca	UTSW	10	17915309	missense	probably benign	0.30
R4736:Heca	UTSW	10	17915187	nonsense	probably null
R4789:Heca	UTSW	10	17908147	nonsense	probably null
R5372:Heca	UTSW	10	17915139	missense	probably damaging	1.00
R5412:Heca	UTSW	10	17902296	missense	probably damaging	1.00
R5737:Heca	UTSW	10	17915714	missense	possibly damaging	0.76
R6321:Heca	UTSW	10	17915243	unclassified	probably null
R6630:Heca	UTSW	10	17908108	nonsense	probably null
R7100:Heca	UTSW	10	17915373	missense	probably benign	0.00
R7381:Heca	UTSW	10	17915524	nonsense	probably null
R7664:Heca	UTSW	10	17902370	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTAGACGGACACCATGACC -3'
(R):5'- TCTGGGCTGTCGATACCAAG -3'

Sequencing Primer
(F):5'- TTAGACGGACACCATGACCAAACC -3'
(R):5'- ATGGGGGCTTTTTATCAGCAC -3'

Posted On

2016-02-04