Mutagenetix > Incidental Mutation

Incidental Mutation 'R9434:Hhla1'

713191

Institutional Source

Beutler Lab

Gene Symbol

Hhla1

Ensembl Gene

ENSMUSG00000072511

Gene Name

HERV-H LTR-associating 1

Synonyms

F930104E18Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9434 (G1)

Quality Score

186.009

Status

Validated

Chromosome

Chromosomal Location

65794292-65848653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65839226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 55 (K55E)

Ref Sequence

ENSEMBL: ENSMUSP00000098149 (fasta)

Gene Model

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

AlphaFold

Q3TYV2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100584
AA Change: K55E

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000098149
Gene: ENSMUSG00000072511
AA Change: K55E

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	G	8: 41,133,284 (GRCm39)	I251V	probably benign	Het
Adgrv1	T	C	13: 81,666,292 (GRCm39)		probably benign	Het
Adipoq	A	G	16: 22,965,697 (GRCm39)		probably benign	Het
Adnp	C	T	2: 168,026,377 (GRCm39)	R306Q	probably damaging	Het
Akap11	A	T	14: 78,747,829 (GRCm39)	N1519K		Het
Bach1	C	G	16: 87,516,603 (GRCm39)	S381R	probably benign	Het
Cdc14a	T	C	3: 116,217,092 (GRCm39)	M15V	probably benign	Het
Cgn	T	C	3: 94,672,837 (GRCm39)	D947G	probably damaging	Het
Crhr2	A	T	6: 55,069,512 (GRCm39)	F381I	probably damaging	Het
Dmxl1	G	T	18: 50,010,788 (GRCm39)	A982S	probably damaging	Het
Efcab3	T	C	11: 104,899,863 (GRCm39)	V4375A	probably benign	Het
Epha5	T	C	5: 84,479,227 (GRCm39)	E259G	possibly damaging	Het
Erbb4	T	C	1: 68,081,773 (GRCm39)	D1087G	possibly damaging	Het
Fcgr2b	A	T	1: 170,793,385 (GRCm39)	S215T	probably benign	Het
Fsip2	A	T	2: 82,816,702 (GRCm39)	Y4145F	possibly damaging	Het
Fyb2	C	T	4: 104,847,534 (GRCm39)	T518M	probably damaging	Het
Galk1	C	T	11: 115,903,494 (GRCm39)	W4*	probably null	Het
Gmds	C	A	13: 32,284,369 (GRCm39)	D248Y	probably damaging	Het
Herc3	T	A	6: 58,853,846 (GRCm39)	F631I	probably benign	Het
Il17rb	T	C	14: 29,728,054 (GRCm39)	E51G	probably damaging	Het
Ildr1	T	A	16: 36,529,862 (GRCm39)	L83Q	probably damaging	Het
Ints9	A	G	14: 65,245,506 (GRCm39)	I255V	probably benign	Het
Itga9	G	T	9: 118,636,315 (GRCm39)	D668Y	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Klhl35	A	G	7: 99,119,547 (GRCm39)	Y344C	probably damaging	Het
Klra4	A	G	6: 130,040,083 (GRCm39)	V63A	possibly damaging	Het
Lgr4	A	G	2: 109,836,907 (GRCm39)	T414A	probably benign	Het
Lmbrd2	C	T	15: 9,157,314 (GRCm39)	T184M	probably benign	Het
Lrp1	T	C	10: 127,381,689 (GRCm39)	D3795G	possibly damaging	Het
N6amt1	T	A	16: 87,159,421 (GRCm39)	L109Q	possibly damaging	Het
Ncoa1	A	G	12: 4,365,755 (GRCm39)	C215R	probably benign	Het
Ngef	G	A	1: 87,408,315 (GRCm39)	S584F	possibly damaging	Het
Notch4	T	C	17: 34,801,673 (GRCm39)	C1174R	probably damaging	Het
Opa1	T	C	16: 29,404,874 (GRCm39)	I24T	probably benign	Het
Or10v1	A	C	19: 11,873,393 (GRCm39)	I3L	probably benign	Het
Or1e1b-ps1	A	T	11: 73,845,662 (GRCm39)	I49F	probably damaging	Het
Or1o4	T	C	17: 37,591,254 (GRCm39)	E19G	probably benign	Het
Or4a15	A	G	2: 89,193,692 (GRCm39)	V27A	probably benign	Het
Pcnx2	A	G	8: 126,542,512 (GRCm39)	V1223A	probably benign	Het
Phf14	A	G	6: 11,933,492 (GRCm39)	K118R	unknown	Het
Plcd1	A	T	9: 118,905,231 (GRCm39)	M186K	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Sumf1	A	T	6: 108,130,096 (GRCm39)	C233S	possibly damaging	Het
Tbc1d12	A	G	19: 38,902,461 (GRCm39)	K540R	probably benign	Het
Tmem150c	T	C	5: 100,240,643 (GRCm39)	N73S	probably damaging	Het
Tpra1	T	C	6: 88,888,774 (GRCm39)	S319P	probably benign	Het
Ttk	C	A	9: 83,750,143 (GRCm39)	Y699*	probably null	Het
Vmn1r196	T	A	13: 22,477,790 (GRCm39)	L143*	probably null	Het
Vmn2r84	A	G	10: 130,221,745 (GRCm39)	V825A	possibly damaging	Het
Zpld2	T	G	4: 133,929,553 (GRCm39)	T251P	probably benign	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
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
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'- TATAGAGCTTAGGAAACGTGCC -3'
(R):5'- GAAGATCCCTTCTGCCTGTG -3'

Sequencing Primer
(F):5'- TTAGGAAACGTGCCCAGGGTTC -3'
(R):5'- AGATCCCTTCTGCCTGTGTTTCAG -3'

Posted On

2022-05-16