Mutagenetix > Incidental Mutation

Incidental Mutation 'R9137:Hhla1'

694108

Institutional Source

Beutler Lab

Gene Symbol

Hhla1

Ensembl Gene

ENSMUSG00000072511

Gene Name

HERV-H LTR-associating 1

Synonyms

F930104E18Rik

MMRRC Submission

068932-MU

Accession Numbers

Essential gene?

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

Stock #

R9137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65794292-65848653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 65795761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 482 (Q482K)

Ref Sequence

ENSEMBL: ENSMUSP00000098149 (fasta)

Gene Model

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

AlphaFold

Q3TYV2

Predicted Effect

probably damaging
Transcript: ENSMUST00000100584
AA Change: Q482K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000098149
Gene: ENSMUSG00000072511
AA Change: Q482K

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	G	16: 4,685,312 (GRCm39)	K299R	probably benign	Het
Abca12	T	G	1: 71,298,525 (GRCm39)	I2366L	possibly damaging	Het
Adgrv1	A	G	13: 81,688,133 (GRCm39)	V1749A	probably damaging	Het
Ano9	C	T	7: 140,684,028 (GRCm39)	V546M	probably damaging	Het
Atad5	A	T	11: 79,986,481 (GRCm39)	S523C	probably damaging	Het
Cacna1s	A	T	1: 135,996,744 (GRCm39)	D115V	possibly damaging	Het
Ccdc18	T	G	5: 108,296,856 (GRCm39)	C220G	probably damaging	Het
Cfap61	A	C	2: 146,042,685 (GRCm39)	K1153Q	probably benign	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cntnap5c	T	A	17: 58,601,203 (GRCm39)		probably benign	Het
Col11a1	A	G	3: 113,855,172 (GRCm39)	K144R	unknown	Het
Cr2	A	G	1: 194,850,640 (GRCm39)		probably null	Het
Cyp3a16	A	C	5: 145,406,413 (GRCm39)	V13G	unknown	Het
E330034G19Rik	A	G	14: 24,346,109 (GRCm39)	N72D	unknown	Het
Enah	A	G	1: 181,739,160 (GRCm39)		probably null	Het
Fezf1	T	A	6: 23,246,511 (GRCm39)		probably benign	Het
Gabrr2	T	A	4: 33,095,571 (GRCm39)	S487T	probably benign	Het
Gas2l2	G	A	11: 83,315,894 (GRCm39)	T275M	probably damaging	Het
Hectd4	A	G	5: 121,496,238 (GRCm39)	K3877E	possibly damaging	Het
Hivep2	A	G	10: 14,004,712 (GRCm39)	T437A	probably benign	Het
Iars1	C	T	13: 49,855,350 (GRCm39)	T259M	probably benign	Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Itpk1	T	C	12: 102,540,291 (GRCm39)	E264G	probably benign	Het
Katnb1	G	A	8: 95,824,320 (GRCm39)	M501I	possibly damaging	Het
Kcna10	G	A	3: 107,102,497 (GRCm39)	G376E	probably damaging	Het
Kif23	A	T	9: 61,834,713 (GRCm39)	F397I	probably damaging	Het
Klf14	A	T	6: 30,934,855 (GRCm39)	C260S	probably damaging	Het
Lgi2	T	A	5: 52,695,361 (GRCm39)	S533C	probably damaging	Het
Marveld1	A	G	19: 42,136,440 (GRCm39)	D118G	probably benign	Het
Msln	C	T	17: 25,969,084 (GRCm39)	A434T	probably benign	Het
Neb	T	C	2: 52,150,502 (GRCm39)		probably benign	Het
Nes	G	T	3: 87,878,651 (GRCm39)	G48W	probably damaging	Het
Or5k3	T	A	16: 58,969,635 (GRCm39)	C141S	probably benign	Het
Osmr	T	A	15: 6,856,709 (GRCm39)	E479D	probably benign	Het
Otop3	A	G	11: 115,235,868 (GRCm39)	H500R	possibly damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Phldb3	C	T	7: 24,310,723 (GRCm39)		probably benign	Het
Ppp4r3a	T	A	12: 101,021,794 (GRCm39)	I369F	possibly damaging	Het
Rarres1	T	A	3: 67,422,801 (GRCm39)		probably benign	Het
Scn4a	A	G	11: 106,214,736 (GRCm39)	V1287A	probably damaging	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Sh3bp4	T	A	1: 89,072,647 (GRCm39)	C498*	probably null	Het
Smtn	T	G	11: 3,472,838 (GRCm39)	K278T	possibly damaging	Het
Sp140	T	C	1: 85,570,297 (GRCm39)	S405P	probably damaging	Het
Spata31e2	A	T	1: 26,724,715 (GRCm39)	I155N	probably benign	Het
Spem1	A	G	11: 69,712,433 (GRCm39)	V77A	probably benign	Het
St8sia2	T	G	7: 73,610,654 (GRCm39)	I210L	probably benign	Het
Stkld1	T	C	2: 26,840,572 (GRCm39)	I418T	probably benign	Het
Tpcn1	A	G	5: 120,695,990 (GRCm39)	F88L	probably damaging	Het
Trim66	C	T	7: 109,074,330 (GRCm39)	V644M	probably damaging	Het
Ttc41	T	C	10: 86,612,486 (GRCm39)	I1253T	probably benign	Het
Vmn2r86	T	C	10: 130,282,409 (GRCm39)	N736D	probably damaging	Het
Zfat	T	A	15: 68,051,794 (GRCm39)	T667S	probably benign	Het
Zfp874a	T	C	13: 67,590,841 (GRCm39)	E281G	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
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
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'- GTATTCATTGCCTGCCTGGG -3'
(R):5'- TGAAACCACACTCTCTATTGTCTG -3'

Sequencing Primer
(F):5'- GGATTATTTAGTGCCTGGCTACC -3'
(R):5'- GGGCTAGACTGTGCAAACCTATC -3'

Posted On

2022-01-20