Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03411:Hhla1'

421817

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hhla1

Ensembl Gene

ENSMUSG00000072511

Gene Name

HERV-H LTR-associating 1

Synonyms

F930104E18Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL03411

Quality Score

Status

Chromosome

Chromosomal Location

65794292-65848653 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 65802078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000098149 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100584]

AlphaFold

Q3TYV2

Predicted Effect

probably null
Transcript: ENSMUST00000100584

SMART Domains

Protein: ENSMUSP00000098149
Gene: ENSMUSG00000072511

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
low complexity region	403	416	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173338

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,218,310 (GRCm39)	I305T	probably damaging	Het
Adamts18	G	A	8: 114,490,929 (GRCm39)	Q513*	probably null	Het
Adamts6	A	G	13: 104,450,842 (GRCm39)	I342V	possibly damaging	Het
Agtr1a	A	G	13: 30,565,582 (GRCm39)	T216A	possibly damaging	Het
Coro1b	A	G	19: 4,200,225 (GRCm39)		probably benign	Het
Cyp4a10	G	A	4: 115,382,890 (GRCm39)		probably null	Het
Cyp4x1	T	A	4: 114,965,982 (GRCm39)	Q448L	probably benign	Het
Ddx60	A	T	8: 62,430,916 (GRCm39)		probably null	Het
Exoc1	C	A	5: 76,690,042 (GRCm39)	A194D	probably damaging	Het
Fastkd1	A	C	2: 69,537,703 (GRCm39)	V293G	probably damaging	Het
Gm5773	T	C	3: 93,681,264 (GRCm39)	L312P	probably damaging	Het
Hmcn2	A	T	2: 31,236,649 (GRCm39)	E397D	possibly damaging	Het
Lig1	C	T	7: 13,030,694 (GRCm39)	R449C	probably damaging	Het
Mdc1	A	G	17: 36,164,018 (GRCm39)	T1189A	probably benign	Het
Muc4	G	A	16: 32,575,436 (GRCm39)	M1397I	probably benign	Het
Myh15	A	G	16: 48,980,330 (GRCm39)	E1484G	possibly damaging	Het
Neb	T	C	2: 52,182,890 (GRCm39)	I1019V	probably benign	Het
Nid1	T	C	13: 13,612,474 (GRCm39)	L63P	probably damaging	Het
Ogfod3	A	T	11: 121,068,630 (GRCm39)	*316R	probably null	Het
Or6z7	T	C	7: 6,483,435 (GRCm39)	K240R	probably benign	Het
Pdpk1	A	T	17: 24,320,618 (GRCm39)	V193E	probably damaging	Het
Phf3	G	T	1: 30,843,482 (GRCm39)	P1826T	probably damaging	Het
Pnliprp2	A	G	19: 58,748,847 (GRCm39)	I51V	probably benign	Het
Prpf4b	C	T	13: 35,079,342 (GRCm39)	L739F	probably damaging	Het
Rcbtb1	T	A	14: 59,447,419 (GRCm39)	M1K	probably null	Het
Rin2	A	G	2: 145,702,864 (GRCm39)	E520G	probably damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Shpk	A	G	11: 73,105,861 (GRCm39)	T238A	probably benign	Het
Tmem132d	A	T	5: 128,061,347 (GRCm39)	Y418*	probably null	Het
Tpte	T	C	8: 22,815,553 (GRCm39)	V212A	possibly damaging	Het
Trim55	A	T	3: 19,713,354 (GRCm39)	Y135F	probably damaging	Het
Ttn	C	T	2: 76,598,456 (GRCm39)	A19486T	probably damaging	Het
Vmn2r59	A	T	7: 41,708,340 (GRCm39)	N22K	probably benign	Het
Vmn2r63	T	C	7: 42,577,368 (GRCm39)	D390G	probably benign	Het
Vmn2r96	A	G	17: 18,806,634 (GRCm39)	E527G	possibly damaging	Het
Vps13d	C	T	4: 144,875,894 (GRCm39)	E1538K	probably damaging	Het
Zfp64	T	C	2: 168,793,462 (GRCm39)		probably null	Het
Zfp827	A	G	8: 79,803,116 (GRCm39)	S563G	probably damaging	Het

Other mutations in Hhla1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00813:Hhla1	APN	15	65,813,810 (GRCm39)	missense	probably damaging	1.00
IGL02531:Hhla1	APN	15	65,839,256 (GRCm39)	splice site	probably benign
IGL02609:Hhla1	APN	15	65,802,463 (GRCm39)	splice site	probably benign
IGL02948:Hhla1	APN	15	65,814,542 (GRCm39)	missense	probably damaging	1.00
IGL03063:Hhla1	APN	15	65,813,639 (GRCm39)	missense	probably damaging	1.00
Encroachment	UTSW	15	65,820,334 (GRCm39)	missense	probably damaging	1.00
trespass	UTSW	15	65,808,231 (GRCm39)	nonsense	probably null
P4717OSA:Hhla1	UTSW	15	65,795,850 (GRCm39)	missense	probably damaging	0.99
R0277:Hhla1	UTSW	15	65,820,352 (GRCm39)	missense	probably benign	0.01
R0323:Hhla1	UTSW	15	65,820,352 (GRCm39)	missense	probably benign	0.01
R0492:Hhla1	UTSW	15	65,808,140 (GRCm39)	missense	probably benign
R1546:Hhla1	UTSW	15	65,805,176 (GRCm39)	missense	probably benign	0.10
R2039:Hhla1	UTSW	15	65,808,226 (GRCm39)	missense	possibly damaging	0.75
R2112:Hhla1	UTSW	15	65,808,232 (GRCm39)	missense	probably benign	0.00
R2405:Hhla1	UTSW	15	65,808,160 (GRCm39)	nonsense	probably null
R4804:Hhla1	UTSW	15	65,794,948 (GRCm39)	missense	probably benign	0.01
R5512:Hhla1	UTSW	15	65,795,865 (GRCm39)	missense	probably benign	0.00
R5651:Hhla1	UTSW	15	65,813,663 (GRCm39)	missense	probably damaging	1.00
R6012:Hhla1	UTSW	15	65,820,339 (GRCm39)	missense	probably damaging	1.00
R6237:Hhla1	UTSW	15	65,813,646 (GRCm39)	missense	probably damaging	1.00
R6837:Hhla1	UTSW	15	65,820,334 (GRCm39)	missense	probably damaging	1.00
R7506:Hhla1	UTSW	15	65,808,231 (GRCm39)	nonsense	probably null
R7657:Hhla1	UTSW	15	65,837,308 (GRCm39)	missense	probably damaging	0.99
R8461:Hhla1	UTSW	15	65,795,723 (GRCm39)	missense	probably benign	0.00
R9137:Hhla1	UTSW	15	65,795,761 (GRCm39)	missense	probably damaging	0.98
R9434:Hhla1	UTSW	15	65,839,226 (GRCm39)	missense	possibly damaging	0.55
R9663:Hhla1	UTSW	15	65,813,630 (GRCm39)	missense	probably damaging	1.00
Z1177:Hhla1	UTSW	15	65,813,624 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02