Mutagenetix > Incidental Mutation

Incidental Mutation 'R7410:H4c18'

575030

Institutional Source

Beutler Lab

Gene Symbol

H4c18

Ensembl Gene

ENSMUSG00000069305

Gene Name

H4 clustered histone 18

Synonyms

Hist1h4n

MMRRC Submission

045491-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R7410 (G1)

Quality Score

92.0077

Status

Not validated

Chromosome

Chromosomal Location

22015962-22016367 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 22016211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 40 (R40W)

Ref Sequence

ENSEMBL: ENSMUSP00000100044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081342] [ENSMUST00000102979] [ENSMUST00000110467] [ENSMUST00000110476] [ENSMUST00000180288]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081342

SMART Domains

Protein: ENSMUSP00000080088
Gene: ENSMUSG00000094777

Domain	Start	End	E-Value	Type
H2A	3	123	8.07e-81	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102979
AA Change: R40W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100044
Gene: ENSMUSG00000069305
AA Change: R40W

Domain	Start	End	E-Value	Type
H4	16	90	2.59e-29	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110467

SMART Domains

Protein: ENSMUSP00000106093
Gene: ENSMUSG00000069303

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
H2B	28	124	4.64e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110476

SMART Domains

Protein: ENSMUSP00000106102
Gene: ENSMUSG00000069303

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
H2B	28	124	1.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000180288

SMART Domains

Protein: ENSMUSP00000136792
Gene: ENSMUSG00000069303

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
H2B	28	124	4.64e-72	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

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 H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210017I01Rik	A	G	3: 92,512,551 (GRCm39)	S3P	unknown	Het
Adgrv1	A	T	13: 81,711,738 (GRCm39)	D1079E	probably benign	Het
Agbl5	A	T	5: 31,048,032 (GRCm39)	Y102F	possibly damaging	Het
Ankfy1	T	C	11: 72,652,330 (GRCm39)	L1094S	probably damaging	Het
Ankrd42	A	T	7: 92,259,762 (GRCm39)	V337E	possibly damaging	Het
Axl	A	G	7: 25,458,208 (GRCm39)	L849P	probably benign	Het
Bmpr2	T	C	1: 59,907,652 (GRCm39)	I915T	probably benign	Het
Cables1	T	A	18: 12,074,282 (GRCm39)	F494L	probably benign	Het
Cacna1e	A	C	1: 154,347,980 (GRCm39)	V927G	probably benign	Het
Cavin1	A	T	11: 100,849,670 (GRCm39)	V320E	probably damaging	Het
Cemip	T	G	7: 83,602,042 (GRCm39)	S916R	probably damaging	Het
Cep57	G	A	9: 13,729,980 (GRCm39)		probably benign	Het
Ces1d	T	C	8: 93,919,433 (GRCm39)	N120D	probably damaging	Het
Cfap44	A	T	16: 44,288,776 (GRCm39)	S1509C	probably damaging	Het
Chga	A	G	12: 102,528,866 (GRCm39)	D281G	probably benign	Het
Clstn2	A	G	9: 97,423,920 (GRCm39)	F282L	probably benign	Het
Cnot1	A	T	8: 96,459,787 (GRCm39)	V1855E	possibly damaging	Het
Cnr1	T	A	4: 33,944,119 (GRCm39)	V169D	probably damaging	Het
Cpd	T	A	11: 76,673,134 (GRCm39)	H1337L	probably damaging	Het
Crabp2	T	A	3: 87,859,585 (GRCm39)	D78E	probably damaging	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cyp2ab1	G	A	16: 20,135,475 (GRCm39)	A9V	probably benign	Het
Cyp3a41b	T	C	5: 145,514,967 (GRCm39)	D86G	probably damaging	Het
Dner	T	A	1: 84,563,332 (GRCm39)	D96V	probably damaging	Het
Duox1	C	A	2: 122,176,874 (GRCm39)	T1465N	probably damaging	Het
Ehd3	T	A	17: 74,112,428 (GRCm39)	V64E	probably benign	Het
Ehmt1	A	G	2: 24,738,080 (GRCm39)	V508A	probably benign	Het
Ephb3	G	A	16: 21,040,158 (GRCm39)	V761I	possibly damaging	Het
Fam161b	T	C	12: 84,404,575 (GRCm39)	Q35R	probably benign	Het
Fam186a	T	A	15: 99,844,826 (GRCm39)	K473*	probably null	Het
Fam227b	A	T	2: 125,960,983 (GRCm39)	D215E	probably damaging	Het
Fkbp15	C	A	4: 62,258,536 (GRCm39)	D144Y	probably damaging	Het
Galt	T	C	4: 41,757,707 (GRCm39)	I259T	possibly damaging	Het
Gbp11	G	A	5: 105,491,774 (GRCm39)	P8S	probably damaging	Het
Gfap	A	T	11: 102,783,963 (GRCm39)	M339K	probably damaging	Het
Gm14443	C	T	2: 175,011,069 (GRCm39)	R459Q	possibly damaging	Het
Grip1	A	G	10: 119,855,925 (GRCm39)	N632S	probably benign	Het
Hcar1	T	G	5: 124,017,161 (GRCm39)	I177L	possibly damaging	Het
Ighv1-37	A	G	12: 114,860,099 (GRCm39)	V37A	probably damaging	Het
Ilf3	T	A	9: 21,311,100 (GRCm39)	F657L	unknown	Het
Ints2	T	G	11: 86,124,052 (GRCm39)	T579P	probably benign	Het
Iqgap1	G	T	7: 80,372,778 (GRCm39)	Y1520*	probably null	Het
Kdm4a	T	C	4: 118,001,115 (GRCm39)	H884R	possibly damaging	Het
Krtap19-1	A	T	16: 88,666,132 (GRCm39)	Y52N	unknown	Het
Lama5	A	T	2: 179,844,183 (GRCm39)		probably null	Het
Lrrc72	T	C	12: 36,272,803 (GRCm39)	N89D	probably damaging	Het
Med13l	A	G	5: 118,698,897 (GRCm39)	D16G	possibly damaging	Het
Mefv	A	G	16: 3,533,545 (GRCm39)	L242P	probably damaging	Het
Mob3c	T	C	4: 115,688,784 (GRCm39)	Y106H	probably damaging	Het
Nlrp1a	A	G	11: 71,014,683 (GRCm39)	I189T	probably damaging	Het
Nudt7	T	C	8: 114,860,559 (GRCm39)		probably benign	Het
Or13p10	T	C	4: 118,523,629 (GRCm39)	L305P	probably benign	Het
Or4f7	T	A	2: 111,644,271 (GRCm39)	I267L	probably benign	Het
Pappa	A	G	4: 65,253,956 (GRCm39)	T1537A	probably damaging	Het
Pik3r4	T	A	9: 105,527,790 (GRCm39)	V381E	probably damaging	Het
Pkd1	T	A	17: 24,794,855 (GRCm39)	Y2181N	probably damaging	Het
Pmel	G	T	10: 128,552,353 (GRCm39)	V396F	probably benign	Het
Prdm9	A	G	17: 15,765,259 (GRCm39)	I507T	possibly damaging	Het
Psme4	C	T	11: 30,765,279 (GRCm39)	Q549*	probably null	Het
Ptprg	T	A	14: 11,962,657 (GRCm38)	W152R	probably damaging	Het
Ptprm	A	C	17: 67,000,561 (GRCm39)	V1141G	probably damaging	Het
Rapgef5	G	A	12: 117,685,063 (GRCm39)	V505M	probably damaging	Het
Rnf213	T	A	11: 119,325,877 (GRCm39)	M1558K		Het
Slc35a1	A	G	4: 34,675,034 (GRCm39)	V168A	probably benign	Het
Srebf1	T	C	11: 60,096,693 (GRCm39)	T347A	probably benign	Het
Stard9	T	A	2: 120,531,978 (GRCm39)	V2745D	probably benign	Het
Taar7e	A	T	10: 23,914,424 (GRCm39)	T305S	probably benign	Het
Tie1	T	C	4: 118,337,074 (GRCm39)	S551G	probably benign	Het
Tmc5	T	A	7: 118,222,820 (GRCm39)	Y173*	probably null	Het
Tns2	T	A	15: 102,018,961 (GRCm39)	V384D	probably damaging	Het
Tubgcp4	T	A	2: 121,014,890 (GRCm39)	Y267N	probably damaging	Het
Vmn1r53	A	G	6: 90,200,700 (GRCm39)	V208A	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdfy4	T	C	14: 32,696,191 (GRCm39)	D2784G		Het
Zfp712	A	C	13: 67,189,400 (GRCm39)	S376A	probably benign	Het
Znrf3	C	T	11: 5,238,955 (GRCm39)	C232Y	unknown	Het

Predicted Primers

PCR Primer
(F):5'- TAATTAGCCGCCGAATCCG -3'
(R):5'- CGGTCCGCAAGTTCCCTATAAG -3'

Sequencing Primer
(F):5'- TAATTAGCCGCCGAATCCGTAGAG -3'
(R):5'- TATAAGAGGGGCCGGCCTTC -3'

Posted On

2019-10-07