Mutagenetix > Incidental Mutation

Incidental Mutation 'R2405:Hhla1'

247981

Institutional Source

Beutler Lab

Gene Symbol

Hhla1

Ensembl Gene

ENSMUSG00000072511

Gene Name

HERV-H LTR-associating 1

Synonyms

F930104E18Rik

MMRRC Submission

040371-MU

Accession Numbers

Essential gene?

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

Stock #

R2405 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65794292-65848653 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 65808160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 295 (L295*)

Ref Sequence

ENSEMBL: ENSMUSP00000098149 (fasta)

Gene Model

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

AlphaFold

Q3TYV2

Predicted Effect

probably null
Transcript: ENSMUST00000100584
AA Change: L295*

SMART Domains

Protein: ENSMUSP00000098149
Gene: ENSMUSG00000072511
AA Change: L295*

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

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Abl1	T	C	2: 31,690,986 (GRCm39)	L835P	possibly damaging	Het
Ascc3	T	A	10: 50,607,774 (GRCm39)	V1426D	probably damaging	Het
Ccny	A	G	18: 9,353,480 (GRCm39)	Y98H	probably benign	Het
Ccser2	G	A	14: 36,660,626 (GRCm39)	T509M	probably damaging	Het
Crnkl1	A	T	2: 145,770,077 (GRCm39)	Y255*	probably null	Het
Cyp2d11	C	T	15: 82,273,467 (GRCm39)	S468N	possibly damaging	Het
Dnah7b	C	A	1: 46,402,114 (GRCm39)	T3983N	probably benign	Het
Ebf1	T	A	11: 44,882,349 (GRCm39)	M427K	probably damaging	Het
Fxr1	T	A	3: 34,116,003 (GRCm39)	S438T	probably damaging	Het
Gabrr1	A	T	4: 33,157,110 (GRCm39)	D209V	probably damaging	Het
Gbx2	G	T	1: 89,858,630 (GRCm39)		probably benign	Het
Gng14	A	G	8: 85,794,270 (GRCm39)	I56T	possibly damaging	Het
Gulo	A	G	14: 66,228,477 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,736,092 (GRCm39)	I126L	probably damaging	Het
Hpse	A	G	5: 100,856,637 (GRCm39)	S121P	possibly damaging	Het
Inpp5d	A	G	1: 87,627,451 (GRCm39)	H321R	possibly damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kdm5b	T	A	1: 134,536,754 (GRCm39)	M658K	probably damaging	Het
Kidins220	A	T	12: 25,061,508 (GRCm39)	E875V	probably damaging	Het
Lrrc37	T	C	11: 103,511,810 (GRCm39)	M53V	unknown	Het
Nlrp4b	A	G	7: 10,448,655 (GRCm39)	E286G	probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Pde3a	A	T	6: 141,426,968 (GRCm39)	I710F	probably damaging	Het
Phb1	T	C	11: 95,566,094 (GRCm39)	I126T	probably benign	Het
Ppp4r1	C	T	17: 66,118,341 (GRCm39)	T164I	possibly damaging	Het
Psmc1	G	A	12: 100,086,362 (GRCm39)	R333Q	probably benign	Het
Pygb	A	G	2: 150,662,695 (GRCm39)	Y554C	probably benign	Het
Ror2	G	A	13: 53,284,980 (GRCm39)	P144L	possibly damaging	Het
Serpina3a	A	T	12: 104,087,577 (GRCm39)	M357L	possibly damaging	Het
Serpinb9e	T	A	13: 33,444,063 (GRCm39)	M361K	probably benign	Het
Sgms1	G	A	19: 32,137,072 (GRCm39)	R165*	probably null	Het
Slc15a2	G	A	16: 36,572,199 (GRCm39)	Q691*	probably null	Het
Slc25a25	C	T	2: 32,307,731 (GRCm39)		probably null	Het
Slc34a2	A	G	5: 53,215,523 (GRCm39)	N9S	probably benign	Het
Slc4a2	A	G	5: 24,640,599 (GRCm39)	T665A	probably damaging	Het
Spef2	C	A	15: 9,626,120 (GRCm39)	E1149*	probably null	Het
Tmem179	A	G	12: 112,468,347 (GRCm39)	W45R	probably damaging	Het
Tmpo	C	A	10: 90,999,216 (GRCm39)	K190N	probably damaging	Het
Triml1	T	C	8: 43,583,320 (GRCm39)	Y427C	probably damaging	Het
Trpm2	A	G	10: 77,770,558 (GRCm39)	L720P	probably damaging	Het
Vmn1r60	A	G	7: 5,547,912 (GRCm39)	Y63H	probably benign	Het
Vmn2r96	T	A	17: 18,818,102 (GRCm39)	C560S	probably damaging	Het
Vps35l	G	C	7: 118,391,818 (GRCm39)	A410P	probably damaging	Het
Zdhhc13	A	G	7: 48,472,478 (GRCm39)		probably null	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
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
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'- TTAATCTTAAGGTGCTGGGAAGAG -3'
(R):5'- CTATGTGCCCAAAGTGGCAAG -3'

Sequencing Primer
(F):5'- CTTAAGGTGCTGGGAAGAGTTAGATG -3'
(R):5'- AAAACTACCATTGGCTGTTTCC -3'

Posted On

2014-11-11