Mutagenetix > Incidental Mutation

Incidental Mutation 'R2039:Hhla1'

225453

Institutional Source

Beutler Lab

Gene Symbol

Hhla1

Ensembl Gene

ENSMUSG00000072511

Gene Name

HERV-H LTR-associating 1

Synonyms

F930104E18Rik

MMRRC Submission

040046-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R2039 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65794292-65848653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65808226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 273 (T273I)

Ref Sequence

ENSEMBL: ENSMUSP00000098149 (fasta)

Gene Model

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

AlphaFold

Q3TYV2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100584
AA Change: T273I

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000098149
Gene: ENSMUSG00000072511
AA Change: T273I

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

Meta Mutation Damage Score

0.1029

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,636,908 (GRCm39)	T757K	probably benign	Het
Abca14	T	C	7: 119,911,487 (GRCm39)	V1357A	probably damaging	Het
Abca5	A	G	11: 110,190,755 (GRCm39)	F785S	probably damaging	Het
Bltp1	T	A	3: 37,058,027 (GRCm39)	F3206I	possibly damaging	Het
Bmal1	T	G	7: 112,884,319 (GRCm39)	L119R	probably damaging	Het
Cacna1h	T	C	17: 25,610,819 (GRCm39)	I554V	probably benign	Het
Cuzd1	A	T	7: 130,916,643 (GRCm39)		probably benign	Het
Cuzd1	T	C	7: 130,911,345 (GRCm39)	S545G	probably benign	Het
Edrf1	T	A	7: 133,255,678 (GRCm39)	Y574*	probably null	Het
Eef1d	T	C	15: 75,767,618 (GRCm39)	D252G	probably damaging	Het
Efna5	T	G	17: 63,188,061 (GRCm39)	D22A	probably benign	Het
Esyt1	C	T	10: 128,347,820 (GRCm39)	V957I	probably benign	Het
Etl4	T	C	2: 20,790,039 (GRCm39)	S881P	probably damaging	Het
Exoc3	A	G	13: 74,341,096 (GRCm39)	I236T	probably benign	Het
Far2	T	C	6: 148,067,075 (GRCm39)	L320S	probably benign	Het
Fsd1l	T	A	4: 53,679,972 (GRCm39)	D223E	probably benign	Het
Fut1	C	T	7: 45,268,415 (GRCm39)	A123V	possibly damaging	Het
Gap43	A	T	16: 42,112,715 (GRCm39)	D15E	possibly damaging	Het
Gm12789	T	C	4: 101,846,183 (GRCm39)		probably benign	Het
Gm5114	T	A	7: 39,058,612 (GRCm39)	T336S	probably damaging	Het
Hira	A	G	16: 18,770,451 (GRCm39)	H812R	probably benign	Het
Hsp90aa1	T	C	12: 110,660,216 (GRCm39)	N360S	probably damaging	Het
Kmt2c	A	G	5: 25,534,038 (GRCm39)	L1463S	possibly damaging	Het
Lman2l	A	G	1: 36,467,535 (GRCm39)	F171S	probably damaging	Het
Lrfn5	T	C	12: 61,887,109 (GRCm39)	L299S	possibly damaging	Het
Msr1	A	T	8: 40,042,418 (GRCm39)	W386R	probably damaging	Het
Myo1e	T	C	9: 70,227,415 (GRCm39)	V162A	possibly damaging	Het
Npy6r	A	G	18: 44,409,070 (GRCm39)	T164A	probably benign	Het
Or52e4	T	C	7: 104,705,597 (GRCm39)	L48P	possibly damaging	Het
Rbak	C	A	5: 143,158,930 (GRCm39)	V708L	probably benign	Het
Rev3l	A	G	10: 39,700,440 (GRCm39)	I1646V	probably damaging	Het
Rsrc1	A	G	3: 66,901,951 (GRCm39)	T34A	unknown	Het
Septin9	G	A	11: 117,242,443 (GRCm39)	V53I	probably damaging	Het
Snrnp200	G	A	2: 127,076,904 (GRCm39)	A1646T	probably benign	Het
Spata31h1	A	G	10: 82,120,510 (GRCm39)	S4167P	probably damaging	Het
Sqor	G	A	2: 122,634,324 (GRCm39)		probably null	Het
St7	T	C	6: 17,886,111 (GRCm39)	Y358H	probably damaging	Het
Tafa1	C	A	6: 96,631,725 (GRCm39)		probably null	Het
Tas2r126	T	A	6: 42,411,557 (GRCm39)	M30K	probably benign	Het
Thsd7a	G	A	6: 12,408,922 (GRCm39)	T700I	possibly damaging	Het
Ttn	T	G	2: 76,698,810 (GRCm39)		probably benign	Het
Ugt1a10	T	G	1: 87,983,703 (GRCm39)	I167S	probably benign	Het
Uhmk1	T	C	1: 170,039,836 (GRCm39)	D88G	probably damaging	Het
Washc2	T	A	6: 116,201,400 (GRCm39)	F332Y	probably damaging	Het
Wdr48	T	A	9: 119,738,453 (GRCm39)	W38R	probably damaging	Het
Zfc3h1	A	G	10: 115,242,388 (GRCm39)	D622G	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
IGL03411:Hhla1	APN	15	65,802,078 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- ATCTTAAGGTGCTGGGAAGAGTTAG -3'
(R):5'- GCCTAATTGTCTTTCATGACTCAAC -3'

Sequencing Primer
(F):5'- GGGAAGAGTTAGATGGAGATATTTTG -3'
(R):5'- CAACAGTTCTATGTGCCCAAAGTGG -3'

Posted On

2014-08-25