Mutagenetix > Incidental Mutation

Incidental Mutation 'R2043:H3c3'

225229

Institutional Source

Beutler Lab

Gene Symbol

H3c3

Ensembl Gene

ENSMUSG00000069310

Gene Name

H3 clustered histone 3

Synonyms

H3-143, Hist1h3c

MMRRC Submission

040050-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R2043 (G1)

Quality Score

166

Status

Not validated

Chromosome

Chromosomal Location

23929025-23929504 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23929278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 68 (F68S)

Ref Sequence

ENSEMBL: ENSMUSP00000089346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040914] [ENSMUST00000091752] [ENSMUST00000099703]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040914

SMART Domains

Protein: ENSMUSP00000045816
Gene: ENSMUSG00000036181

Domain	Start	End	E-Value	Type
low complexity region	3	29	N/A	INTRINSIC
H15	34	99	2.8e-22	SMART
low complexity region	116	212	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000091752
AA Change: F68S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000089346
Gene: ENSMUSG00000069310
AA Change: F68S

Domain	Start	End	E-Value	Type
H3	34	136	2.12e-75	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099703

SMART Domains

Protein: ENSMUSP00000097294
Gene: ENSMUSG00000075031

Domain	Start	End	E-Value	Type
H2B	28	124	4.64e-72	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199263

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

96% (47/49)

MGI Phenotype

FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	G	8: 25,486,669 (GRCm39)		probably null	Het
Adnp2	A	C	18: 80,171,541 (GRCm39)	M956R	probably damaging	Het
Aldh1l1	T	A	6: 90,534,314 (GRCm39)	D36E	probably benign	Het
Ankmy1	T	C	1: 92,804,249 (GRCm39)		probably benign	Het
Apaf1	T	C	10: 90,872,890 (GRCm39)	D718G	probably damaging	Het
Ascc3	C	T	10: 50,576,616 (GRCm39)	P857L	probably damaging	Het
Atp8b1	T	C	18: 64,738,271 (GRCm39)	K60R	possibly damaging	Het
Bub1	A	T	2: 127,646,140 (GRCm39)	C947S	probably damaging	Het
Cacna1c	C	T	6: 118,573,049 (GRCm39)	G2017D	probably benign	Het
Capn3	A	G	2: 120,322,382 (GRCm39)	N414S	possibly damaging	Het
Ccdc110	T	C	8: 46,395,864 (GRCm39)	M585T	probably benign	Het
Cep85l	A	T	10: 53,234,224 (GRCm39)	N51K	possibly damaging	Het
Cftr	T	C	6: 18,320,934 (GRCm39)	F1415L	probably benign	Het
Cln5	T	C	14: 103,313,380 (GRCm39)	S211P	probably damaging	Het
Dcaf5	A	T	12: 80,386,991 (GRCm39)	D378E	probably benign	Het
Dhx57	A	G	17: 80,560,509 (GRCm39)		probably benign	Het
Dsn1	G	A	2: 156,847,273 (GRCm39)	S55L	possibly damaging	Het
Eif5b	T	C	1: 38,080,900 (GRCm39)	F747S	probably damaging	Het
Entrep3	A	G	3: 89,092,874 (GRCm39)	Y251C	probably damaging	Het
Fbxo25	A	G	8: 13,971,905 (GRCm39)	I86V	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Glcci1	T	A	6: 8,582,590 (GRCm39)	I130K	probably damaging	Het
Gm5424	A	G	10: 61,906,990 (GRCm39)		noncoding transcript	Het
Gsdma	G	A	11: 98,557,046 (GRCm39)	V54M	possibly damaging	Het
Heatr3	T	A	8: 88,874,322 (GRCm39)		probably benign	Het
Hspa13	A	G	16: 75,555,156 (GRCm39)	L310S	probably benign	Het
Il6st	A	C	13: 112,616,753 (GRCm39)	Q100P	probably benign	Het
Ly6g6e	G	A	17: 35,296,840 (GRCm39)	R27Q	possibly damaging	Het
Mis18bp1	A	T	12: 65,196,192 (GRCm39)	I524K	probably damaging	Het
Myo18a	T	C	11: 77,714,189 (GRCm39)	I761T	probably damaging	Het
Mypop	T	C	7: 18,734,944 (GRCm39)		probably benign	Het
Or51ag1	A	G	7: 103,156,150 (GRCm39)	M1T	probably null	Het
Pcdh20	G	A	14: 88,704,591 (GRCm39)	T903I	probably benign	Het
Pdk4	A	T	6: 5,485,502 (GRCm39)	C396S	probably benign	Het
Piwil2	A	G	14: 70,628,919 (GRCm39)	V699A	probably benign	Het
Plekha5	T	C	6: 140,498,530 (GRCm39)		probably benign	Het
Ralgapa1	T	A	12: 55,723,811 (GRCm39)	I1572L	probably damaging	Het
Rasgrf2	T	A	13: 92,167,351 (GRCm39)	M241L	possibly damaging	Het
Ryr1	C	T	7: 28,759,056 (GRCm39)	R3374H	probably damaging	Het
Slc24a2	A	T	4: 86,914,882 (GRCm39)	M519K	probably damaging	Het
Smg9	T	A	7: 24,105,001 (GRCm39)	I67N	possibly damaging	Het
Spart	G	A	3: 55,034,969 (GRCm39)	A452T	probably damaging	Het
Ush2a	T	A	1: 188,648,453 (GRCm39)	F4686Y	probably benign	Het
Zfp146	T	C	7: 29,861,664 (GRCm39)	K126R	possibly damaging	Het
Zfp386	T	A	12: 116,022,781 (GRCm39)	D131E	probably benign	Het
Zfp423	T	C	8: 88,509,246 (GRCm39)	D366G	probably damaging	Het
Zfp729a	T	C	13: 67,769,291 (GRCm39)	K313E	probably damaging	Het
Zfp955a	G	A	17: 33,461,527 (GRCm39)	H202Y	possibly damaging	Het

Other mutations in H3c3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03126:H3c3	APN	13	23,929,425 (GRCm39)	missense	possibly damaging	0.66
IGL03232:H3c3	APN	13	23,929,164 (GRCm39)	missense	probably damaging	0.96
R3114:H3c3	UTSW	13	23,929,290 (GRCm39)	missense	probably benign	0.00
R8749:H3c3	UTSW	13	23,929,108 (GRCm39)	missense	probably benign	0.36
R8984:H3c3	UTSW	13	23,929,393 (GRCm39)	missense	probably benign	0.00
X0037:H3c3	UTSW	13	23,929,417 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCCTTGGGCATGATGGTGAC -3'
(R):5'- AGGGCAAGATTTCTTTCGTCCTG -3'

Sequencing Primer
(F):5'- TGGTGTCCTCAAACAGAC -3'
(R):5'- ATGGCTCGTACTAAGCAGACCG -3'

Posted On

2014-08-25