Mutagenetix > Incidental Mutation

Incidental Mutation 'R6837:Hhla1'

537914

Institutional Source

Beutler Lab

Gene Symbol

Hhla1

Ensembl Gene

ENSMUSG00000072511

Gene Name

HERV-H LTR-associating 1

Synonyms

F930104E18Rik

MMRRC Submission

044945-MU

Accession Numbers

Essential gene?

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

Stock #

R6837 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65794292-65848653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65820334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 139 (N139D)

Ref Sequence

ENSEMBL: ENSMUSP00000098149 (fasta)

Gene Model

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

AlphaFold

Q3TYV2

Predicted Effect

probably damaging
Transcript: ENSMUST00000100584
AA Change: N139D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000098149
Gene: ENSMUSG00000072511
AA Change: N139D

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

0.2988

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	G	A	12: 53,188,045 (GRCm39)	E1820K	probably damaging	Het
Anxa8	A	T	14: 33,814,511 (GRCm39)	I116F	probably damaging	Het
Arid4a	A	G	12: 71,122,289 (GRCm39)	D890G	probably benign	Het
Aup1	C	T	6: 83,034,279 (GRCm39)	T396I	possibly damaging	Het
C2cd3	G	C	7: 100,097,953 (GRCm39)	E594Q	probably damaging	Het
Colgalt2	C	T	1: 152,382,579 (GRCm39)	P477L	probably damaging	Het
Dennd3	G	A	15: 73,429,542 (GRCm39)	D20N	probably damaging	Het
Dpysl3	A	G	18: 43,570,947 (GRCm39)	I109T	probably benign	Het
Fas	A	T	19: 34,284,564 (GRCm39)	T24S	probably damaging	Het
Fras1	A	T	5: 96,874,832 (GRCm39)	I2332F	probably damaging	Het
Gm10267	T	C	18: 44,291,375 (GRCm39)	H32R	probably benign	Het
Gm57859	A	G	11: 113,579,439 (GRCm39)	H278R	possibly damaging	Het
Hcfc2	A	T	10: 82,575,030 (GRCm39)	I230F	probably damaging	Het
Hdac9	T	C	12: 34,337,463 (GRCm39)	T673A	probably benign	Het
Herc2	T	G	7: 55,839,589 (GRCm39)	N3366K	possibly damaging	Het
Hip1r	A	G	5: 124,136,928 (GRCm39)	E632G	possibly damaging	Het
Kcnc2	A	G	10: 112,294,407 (GRCm39)	D98G	probably damaging	Het
Maip1	T	A	1: 57,454,891 (GRCm39)	*292K	probably null	Het
Map2	T	C	1: 66,453,731 (GRCm39)	F874L	probably damaging	Het
Myof	A	T	19: 37,911,404 (GRCm39)		probably null	Het
Notch2	A	G	3: 97,978,170 (GRCm39)		probably null	Het
Npy5r	T	A	8: 67,134,392 (GRCm39)	M134L	probably benign	Het
Ntsr2	T	A	12: 16,709,710 (GRCm39)	M225K	probably benign	Het
Nup153	G	A	13: 46,847,527 (GRCm39)	T634I	probably damaging	Het
Or51f1d	T	A	7: 102,700,929 (GRCm39)	Y141*	probably null	Het
Pcsk5	T	C	19: 17,416,448 (GRCm39)	S1667G	probably benign	Het
Pex13	A	G	11: 23,599,527 (GRCm39)	I328T	possibly damaging	Het
Pkd2	T	G	5: 104,624,909 (GRCm39)	L235W	probably damaging	Het
Prune2	A	T	19: 17,156,292 (GRCm39)	D66V	probably damaging	Het
Rasal3	T	C	17: 32,622,044 (GRCm39)	N105S	probably benign	Het
Sla	A	T	15: 66,658,939 (GRCm39)	I144N	probably damaging	Het
Slc5a4b	A	T	10: 75,898,220 (GRCm39)	I498N	possibly damaging	Het
Snx14	C	T	9: 88,262,276 (GRCm39)	E872K	probably benign	Het
Stx16	G	A	2: 173,935,795 (GRCm39)	R242H	probably benign	Het
Tg	T	C	15: 66,567,984 (GRCm39)	F1296S	probably damaging	Het
Tmem161b	C	A	13: 84,370,537 (GRCm39)		probably benign	Het
Tmf1	G	A	6: 97,153,542 (GRCm39)	T177M	possibly damaging	Het
Tuba4a	T	C	1: 75,194,038 (GRCm39)	Q14R	probably damaging	Het
Vmn2r114	T	C	17: 23,529,176 (GRCm39)	M309V	probably benign	Het
Vps13c	C	T	9: 67,817,504 (GRCm39)	P1059S	probably benign	Het
Yars1	T	A	4: 129,103,544 (GRCm39)	S298T	possibly 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
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'- TTGGTCCTATTGCTCAAACAGT -3'
(R):5'- ACATCTTTTACCTTGCACATATTCAC -3'

Sequencing Primer
(F):5'- GGTCCTATTGCTCAAACAGTAGCAG -3'
(R):5'- GCTTTGTCTGGCTACAAACACAC -3'

Posted On

2018-10-18