Mutagenetix > Incidental Mutation

Incidental Mutation 'R2158:Hormad2'

234994

Institutional Source

Beutler Lab

Gene Symbol

Hormad2

Ensembl Gene

ENSMUSG00000020419

Gene Name

HORMA domain containing 2

Synonyms

4930529M09Rik

MMRRC Submission

040161-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R2158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4295814-4391105 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 4374808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 69 (K69*)

Ref Sequence

ENSEMBL: ENSMUSP00000121715 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020689] [ENSMUST00000109948] [ENSMUST00000109949] [ENSMUST00000130174]

AlphaFold

Q5SQP1

Predicted Effect

probably benign
Transcript: ENSMUST00000020689

SMART Domains

Protein: ENSMUSP00000020689
Gene: ENSMUSG00000020419

Domain	Start	End	E-Value	Type
Pfam:HORMA	27	65	1.9e-14	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109948
AA Change: K69*

SMART Domains

Protein: ENSMUSP00000105574
Gene: ENSMUSG00000020419
AA Change: K69*

Domain	Start	End	E-Value	Type
Pfam:HORMA	28	226	8.3e-61	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000109949
AA Change: K69*

SMART Domains

Protein: ENSMUSP00000105575
Gene: ENSMUSG00000020419
AA Change: K69*

Domain	Start	End	E-Value	Type
Pfam:HORMA	27	226	6.4e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124249

Predicted Effect

probably null
Transcript: ENSMUST00000130174
AA Change: K69*

SMART Domains

Protein: ENSMUSP00000121715
Gene: ENSMUSG00000020419
AA Change: K69*

Domain	Start	End	E-Value	Type
Pfam:HORMA	27	103	6.3e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149443

Meta Mutation Damage Score

0.9718

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (59/59)

MGI Phenotype

PHENOTYPE: Homozygous inactivation of this gene leads to arrest of spermatogenesis, male infertility, and abnormalities in male and female meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	T	C	19: 3,766,608 (GRCm39)	V65A	possibly damaging	Het
4930402F06Rik	A	T	2: 35,275,680 (GRCm39)	S38T	possibly damaging	Het
Adam4	A	G	12: 81,468,537 (GRCm39)	L28S	probably damaging	Het
Agmo	T	A	12: 37,407,709 (GRCm39)	F198I	probably damaging	Het
Akap7	A	G	10: 25,047,062 (GRCm39)	V45A	probably damaging	Het
Amotl1	G	T	9: 14,486,465 (GRCm39)	N476K	probably benign	Het
Apcs	A	G	1: 172,722,100 (GRCm39)	L82P	probably damaging	Het
Armc3	C	A	2: 19,253,444 (GRCm39)	P195Q	probably damaging	Het
Astn2	A	T	4: 66,322,491 (GRCm39)	L36Q	unknown	Het
Atad2	A	T	15: 57,961,962 (GRCm39)	S870T	possibly damaging	Het
Bmp10	A	T	6: 87,411,062 (GRCm39)	D285V	probably benign	Het
Caskin1	T	C	17: 24,724,128 (GRCm39)	V972A	probably benign	Het
Ccdc141	T	A	2: 76,861,015 (GRCm39)	N921Y	probably damaging	Het
Cntnap5b	A	T	1: 100,318,297 (GRCm39)	D1019V	probably damaging	Het
Eml5	T	C	12: 98,810,205 (GRCm39)		probably benign	Het
Evi5l	T	C	8: 4,243,195 (GRCm39)	Y360H	probably damaging	Het
Ewsr1	A	G	11: 5,041,450 (GRCm39)		probably benign	Het
Fn3k	A	T	11: 121,339,712 (GRCm39)	N158I	probably damaging	Het
Galnt17	C	T	5: 130,935,540 (GRCm39)	R381Q	probably damaging	Het
Golga3	A	T	5: 110,335,227 (GRCm39)	K180N	probably damaging	Het
Hipk1	A	G	3: 103,667,854 (GRCm39)	L571P	probably damaging	Het
Hspg2	A	T	4: 137,244,915 (GRCm39)	D880V	probably damaging	Het
Ido2	T	A	8: 25,030,652 (GRCm39)	D226V	probably damaging	Het
Irs3	A	G	5: 137,642,961 (GRCm39)	F159S	probably damaging	Het
Itgb1bp1	T	C	12: 21,326,860 (GRCm39)	T38A	probably damaging	Het
Kif11	A	G	19: 37,399,062 (GRCm39)	I749V	probably benign	Het
Lrp1b	T	G	2: 40,769,567 (GRCm39)	M2811L	probably benign	Het
Lysmd3	A	G	13: 81,817,737 (GRCm39)	Y238C	probably damaging	Het
Mapk11	G	A	15: 89,030,575 (GRCm39)	T106M	probably damaging	Het
Mdga2	C	T	12: 66,736,155 (GRCm39)	V358I	possibly damaging	Het
Muc4	C	T	16: 32,754,563 (GRCm38)	T1479I	probably benign	Het
Myom1	T	C	17: 71,371,592 (GRCm39)	V578A	possibly damaging	Het
Nek10	T	G	14: 14,885,047 (GRCm38)		probably null	Het
Nid2	G	A	14: 19,828,111 (GRCm39)	G516S	probably benign	Het
Or2t47	T	A	11: 58,442,768 (GRCm39)	Q99L	probably damaging	Het
Or4k1	T	A	14: 50,377,580 (GRCm39)	N172I	probably damaging	Het
Or51a24	T	G	7: 103,734,033 (GRCm39)	T85P	probably benign	Het
Or51v14	G	C	7: 103,261,443 (GRCm39)	T39R	possibly damaging	Het
Or52a5b	G	T	7: 103,417,168 (GRCm39)	C145*	probably null	Het
Or8d23	T	C	9: 38,841,875 (GRCm39)	M136T	probably damaging	Het
Pde4dip	A	T	3: 97,664,937 (GRCm39)	C333S	probably benign	Het
Pglyrp2	T	A	17: 32,637,222 (GRCm39)	I269F	probably benign	Het
Plch1	A	G	3: 63,628,655 (GRCm39)	V536A	probably benign	Het
Popdc2	T	A	16: 38,183,188 (GRCm39)	L57Q	probably damaging	Het
Pramel14	T	C	4: 143,720,885 (GRCm39)	R19G	possibly damaging	Het
Riox1	A	G	12: 83,997,709 (GRCm39)	K82E	probably benign	Het
Rnasel	G	A	1: 153,630,647 (GRCm39)	V388M	probably damaging	Het
Smc1b	A	G	15: 85,006,052 (GRCm39)		probably benign	Het
Snx25	A	G	8: 46,494,444 (GRCm39)	S814P	probably damaging	Het
Spta1	A	T	1: 174,056,824 (GRCm39)	H1859L	probably benign	Het
Strc	T	C	2: 121,196,343 (GRCm39)	I1562V	probably benign	Het
Taar5	T	A	10: 23,846,986 (GRCm39)	I128N	probably damaging	Het
Ttc28	C	T	5: 111,325,483 (GRCm39)		probably benign	Het
Vcan	A	T	13: 89,851,648 (GRCm39)	M1104K	possibly damaging	Het
Vnn1	C	T	10: 23,776,653 (GRCm39)	Q335*	probably null	Het
Zic1	T	C	9: 91,246,946 (GRCm39)	D42G	possibly damaging	Het

Other mutations in Hormad2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02245:Hormad2	APN	11	4,358,580 (GRCm39)	splice site	probably benign
R0116:Hormad2	UTSW	11	4,362,206 (GRCm39)	splice site	probably benign
R0504:Hormad2	UTSW	11	4,358,833 (GRCm39)	missense	possibly damaging	0.78
R0925:Hormad2	UTSW	11	4,377,297 (GRCm39)	missense	probably damaging	1.00
R1344:Hormad2	UTSW	11	4,359,005 (GRCm39)	critical splice donor site	probably null
R1418:Hormad2	UTSW	11	4,359,005 (GRCm39)	critical splice donor site	probably null
R1512:Hormad2	UTSW	11	4,374,788 (GRCm39)	missense	probably damaging	1.00
R1562:Hormad2	UTSW	11	4,358,848 (GRCm39)	splice site	probably null
R3405:Hormad2	UTSW	11	4,374,302 (GRCm39)	missense	probably damaging	1.00
R3727:Hormad2	UTSW	11	4,358,598 (GRCm39)	missense	probably benign
R3903:Hormad2	UTSW	11	4,377,237 (GRCm39)	splice site	probably benign
R6277:Hormad2	UTSW	11	4,371,583 (GRCm39)	splice site	probably null
R7468:Hormad2	UTSW	11	4,362,245 (GRCm39)	nonsense	probably null
R7633:Hormad2	UTSW	11	4,296,662 (GRCm39)	missense	probably benign	0.00
R7912:Hormad2	UTSW	11	4,358,841 (GRCm39)	missense	probably damaging	1.00
R8129:Hormad2	UTSW	11	4,296,648 (GRCm39)	missense	probably benign	0.02
R8306:Hormad2	UTSW	11	4,358,714 (GRCm39)	missense	probably benign	0.32
R9625:Hormad2	UTSW	11	4,377,372 (GRCm39)	missense	probably damaging	1.00
R9626:Hormad2	UTSW	11	4,377,372 (GRCm39)	missense	probably damaging	1.00
R9628:Hormad2	UTSW	11	4,377,372 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTTCCCAGCACAGAATGG -3'
(R):5'- TGCTCCAGAACTAGGACTGAG -3'

Sequencing Primer
(F):5'- TTCCCAGCACAGAATGGTAGTAAAC -3'
(R):5'- TTTGATCCCAGCACTCAGGAG -3'

Posted On

2014-10-01