Mutagenetix > Incidental Mutation

Incidental Mutation 'R3405:Hormad2'

259336

Institutional Source

Beutler Lab

Gene Symbol

Hormad2

Ensembl Gene

ENSMUSG00000020419

Gene Name

HORMA domain containing 2

Synonyms

4930529M09Rik

MMRRC Submission

040623-MU

Accession Numbers

Essential gene?

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

Stock #

R3405 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4295814-4391105 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 4374302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 88 (Q88P)

Ref Sequence

ENSEMBL: ENSMUSP00000105575 (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 damaging
Transcript: ENSMUST00000109948
AA Change: Q88P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105574
Gene: ENSMUSG00000020419
AA Change: Q88P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109949
AA Change: Q88P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105575
Gene: ENSMUSG00000020419
AA Change: Q88P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124249

Predicted Effect

probably damaging
Transcript: ENSMUST00000130174
AA Change: Q88P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121715
Gene: ENSMUSG00000020419
AA Change: Q88P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149443

Meta Mutation Damage Score

0.1720

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.4%

Validation Efficiency

100% (53/53)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Bcorl1	T	A	X: 47,459,884 (GRCm39)	M1139K	probably benign	Het
C2cd3	T	C	7: 100,039,373 (GRCm39)	S191P	probably benign	Het
Cdc27	T	C	11: 104,398,026 (GRCm39)	E778G	probably damaging	Het
Col3a1	G	A	1: 45,377,913 (GRCm39)		probably benign	Het
Cubn	C	T	2: 13,338,319 (GRCm39)	V2350I	probably benign	Het
Dhodh	G	A	8: 110,330,107 (GRCm39)	R86*	probably null	Het
Dnhd1	C	T	7: 105,343,968 (GRCm39)	Q1771*	probably null	Het
Dpt	A	C	1: 164,624,500 (GRCm39)	E67A	probably damaging	Het
Eif2ak2	A	G	17: 79,166,068 (GRCm39)		probably benign	Het
Exo1	A	G	1: 175,733,536 (GRCm39)	K787E	possibly damaging	Het
Fancm	T	C	12: 65,122,546 (GRCm39)	S23P	probably benign	Het
Fmn1	A	G	2: 113,194,693 (GRCm39)	E131G	unknown	Het
Gm5612	A	T	9: 18,339,149 (GRCm39)		probably benign	Het
Gsdma	T	C	11: 98,563,964 (GRCm39)		probably benign	Het
Immp2l	T	A	12: 41,160,846 (GRCm39)	L48*	probably null	Het
Kcne4	C	T	1: 78,795,688 (GRCm39)	A112V	possibly damaging	Het
Lamb1	C	T	12: 31,337,528 (GRCm39)	R372C	probably damaging	Het
Lrrc30	A	G	17: 67,939,175 (GRCm39)	L135P	probably damaging	Het
Ltn1	A	T	16: 87,213,103 (GRCm39)	V486D	probably damaging	Het
Mab21l3	C	A	3: 101,730,847 (GRCm39)	V131F	probably damaging	Het
Map3k4	A	T	17: 12,475,668 (GRCm39)	F809Y	probably damaging	Het
Mki67	T	A	7: 135,309,204 (GRCm39)	T416S	probably benign	Het
Mlst8	A	T	17: 24,697,099 (GRCm39)	M56K	probably benign	Het
Mmp9	A	G	2: 164,791,310 (GRCm39)	Y160C	probably damaging	Het
Mslnl	A	G	17: 25,965,155 (GRCm39)	Y507C	probably damaging	Het
Myl12a	A	T	17: 71,301,737 (GRCm39)	M130K	probably benign	Het
Myrfl	A	G	10: 116,658,770 (GRCm39)	F396L	probably damaging	Het
Nalf2	A	G	X: 98,889,109 (GRCm39)	I325V	probably benign	Het
Ncf2	A	G	1: 152,701,698 (GRCm39)		probably benign	Het
Nlrp9c	T	A	7: 26,084,707 (GRCm39)	I291F	probably benign	Het
Nrp1	T	A	8: 129,224,569 (GRCm39)	Y777*	probably null	Het
Ogdh	T	C	11: 6,299,462 (GRCm39)	V776A	probably damaging	Het
Pcdh17	T	A	14: 84,684,062 (GRCm39)	D176E	probably damaging	Het
Plg	G	T	17: 12,622,096 (GRCm39)	S472I	possibly damaging	Het
Pnlip	A	G	19: 58,669,191 (GRCm39)	T397A	probably benign	Het
Rbfox3	T	A	11: 118,387,283 (GRCm39)	Q277L	possibly damaging	Het
Senp7	T	A	16: 56,008,640 (GRCm39)	W1007R	probably damaging	Het
Stap2	A	T	17: 56,304,511 (GRCm39)	W374R	probably benign	Het
Szt2	A	G	4: 118,251,217 (GRCm39)	V297A	probably benign	Het
Thada	A	T	17: 84,538,213 (GRCm39)		probably benign	Het
Ticrr	G	C	7: 79,344,539 (GRCm39)	S1468T	probably benign	Het
Uvssa	G	T	5: 33,547,162 (GRCm39)	G243C	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vwa8	T	A	14: 79,401,660 (GRCm39)		probably benign	Het
Zfp609	A	T	9: 65,608,454 (GRCm39)	M1142K	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
R2158:Hormad2	UTSW	11	4,374,808 (GRCm39)	nonsense	probably null
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'- TCTTGTCCAGTGACTTCAGAGG -3'
(R):5'- ACCATTCTGTGCTGGGAAGAG -3'

Sequencing Primer
(F):5'- GTCCAGTGACTTCAGAGGAAATTCTG -3'
(R):5'- CTGGGAAGAGAGAGAACACTTCTG -3'

Posted On

2015-01-23