Mutagenetix > Incidental Mutation

Incidental Mutation 'R9791:Hormad1'

734592

Institutional Source

Beutler Lab

Gene Symbol

Hormad1

Ensembl Gene

ENSMUSG00000028109

Gene Name

HORMA domain containing 1

Synonyms

4921522K05Rik, Nohma

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9791 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95466988-95494982 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95494693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 368 (V368A)

Ref Sequence

ENSEMBL: ENSMUSP00000029754 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029754] [ENSMUST00000060323] [ENSMUST00000090797] [ENSMUST00000098861] [ENSMUST00000107154] [ENSMUST00000171191] [ENSMUST00000177390]

AlphaFold

Q9D5T7

Predicted Effect

probably benign
Transcript: ENSMUST00000029754
AA Change: V368A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029754
Gene: ENSMUSG00000028109
AA Change: V368A

Domain	Start	End	E-Value	Type
Pfam:HORMA	24	221	4.7e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000060323

SMART Domains

Protein: ENSMUSP00000058654
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
Pfam:GPP34	50	275	8.5e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090797

SMART Domains

Protein: ENSMUSP00000088303
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	23	221	5.4e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098861

SMART Domains

Protein: ENSMUSP00000096460
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
Pfam:GPP34	106	277	5.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107154

SMART Domains

Protein: ENSMUSP00000102772
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	23	221	5.4e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171191

SMART Domains

Protein: ENSMUSP00000127180
Gene: ENSMUSG00000028109

Domain	Start	End	E-Value	Type
Pfam:HORMA	23	221	5.4e-60	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176541

Predicted Effect

probably benign
Transcript: ENSMUST00000176674

SMART Domains

Protein: ENSMUSP00000134885
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
Pfam:GPP34	104	288	2.4e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176755

SMART Domains

Protein: ENSMUSP00000134804
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
low complexity region	56	67	N/A	INTRINSIC
low complexity region	70	81	N/A	INTRINSIC
Pfam:GPP34	104	275	7.5e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177389

Predicted Effect

probably benign
Transcript: ENSMUST00000177390

SMART Domains

Protein: ENSMUSP00000134799
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
low complexity region	58	69	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
Pfam:GPP34	106	332	8.3e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177399

SMART Domains

Protein: ENSMUSP00000134998
Gene: ENSMUSG00000046519

Domain	Start	End	E-Value	Type
Pfam:GPP34	23	170	5.4e-27	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a HORMA domain-containing protein. HORMA domains are involved in chromatin binding and play a role in cell cycle regulation. The encoded protein may play a role in meiosis, and expression of this gene is a potential marker for cancer. A pseudogene of this gene is located on the long arm of chromosome 6. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozgous mice are infertile because of meiosis arrest associated with impaired synaptonemal-complex formation. [provided by MGI curators]

Allele List at MGI

All alleles(9) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(7)

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,748,604 (GRCm39)	Y312H	probably damaging	Het
Abcc10	A	T	17: 46,633,185 (GRCm39)	I549N	probably damaging	Het
Agpat2	A	G	2: 26,486,395 (GRCm39)	Y134H	probably damaging	Het
Alms1	A	G	6: 85,596,425 (GRCm39)	D417G	probably benign	Het
Apol11b	T	A	15: 77,519,475 (GRCm39)	I202F	probably benign	Het
Arap1	C	A	7: 101,037,376 (GRCm39)	Q468K	probably benign	Het
Arhgef4	T	C	1: 34,832,445 (GRCm39)		probably null	Het
Asap3	A	T	4: 135,961,914 (GRCm39)	N285I	probably damaging	Het
Aspm	A	T	1: 139,408,375 (GRCm39)	I2421F	probably damaging	Het
Banp	C	A	8: 122,701,285 (GRCm39)	D17E	probably benign	Het
Bsx	T	G	9: 40,788,905 (GRCm39)	V154G	probably damaging	Het
Cacnb1	T	C	11: 97,900,186 (GRCm39)	D324G	probably damaging	Het
Ccdc170	A	T	10: 4,483,957 (GRCm39)		probably null	Het
Ccdc187	T	C	2: 26,171,227 (GRCm39)	H417R	probably benign	Het
Cct4	T	A	11: 22,949,070 (GRCm39)	M272K	probably damaging	Het
Chd9	A	G	8: 91,760,417 (GRCm39)	E2054G	possibly damaging	Het
Ctnnal1	A	T	4: 56,844,584 (GRCm39)	S127T	possibly damaging	Het
Cttnbp2	T	A	6: 18,376,027 (GRCm39)	H1504L	probably benign	Het
Cyp4a29	T	A	4: 115,108,380 (GRCm39)	M368K	probably damaging	Het
Dhx32	A	G	7: 133,326,267 (GRCm39)	F527L	probably benign	Het
Foxk1	T	C	5: 142,387,739 (GRCm39)	V154A	probably damaging	Het
Frem3	G	A	8: 81,339,890 (GRCm39)	E728K	probably benign	Het
Gemin5	G	A	11: 58,020,846 (GRCm39)	Q1114*	probably null	Het
Gm11567	C	T	11: 99,770,274 (GRCm39)	R71C	unknown	Het
Gm13272	T	C	4: 88,698,442 (GRCm39)	V119A	probably benign	Het
Gpc6	T	A	14: 117,163,435 (GRCm39)	C30S	probably damaging	Het
Gprc6a	A	C	10: 51,491,395 (GRCm39)	F785V	probably damaging	Het
Hsd17b4	G	A	18: 50,324,907 (GRCm39)		probably null	Het
Il17ra	C	T	6: 120,459,240 (GRCm39)	S797F	probably damaging	Het
Jmjd6	A	G	11: 116,733,438 (GRCm39)	S80P	probably benign	Het
Klhdc2	T	A	12: 69,346,995 (GRCm39)	N53K	probably benign	Het
Klhl30	C	T	1: 91,282,089 (GRCm39)	P230L	probably benign	Het
Marchf1	C	A	8: 66,729,339 (GRCm39)	A46E	probably benign	Het
Mast4	T	C	13: 102,890,705 (GRCm39)	T1050A	probably benign	Het
Mpp7	T	C	18: 7,355,049 (GRCm39)	N459S	probably benign	Het
Mtfr1l	A	G	4: 134,258,063 (GRCm39)	V53A	probably benign	Het
Myh11	T	A	16: 14,025,992 (GRCm39)	E1326V		Het
Myh3	A	G	11: 66,992,005 (GRCm39)	E1850G	probably damaging	Het
Myo16	A	G	8: 10,619,925 (GRCm39)	D1492G	unknown	Het
Myo3b	C	A	2: 70,180,287 (GRCm39)	H1219Q	probably benign	Het
Nphp4	A	T	4: 152,646,605 (GRCm39)	Q1379L	probably null	Het
Or8g30	C	T	9: 39,230,815 (GRCm39)	V32I	probably benign	Het
Or9q1	A	G	19: 13,804,914 (GRCm39)	I282T	probably benign	Het
Osbpl6	T	G	2: 76,385,361 (GRCm39)	L265R	probably damaging	Het
Pld4	A	G	12: 112,734,862 (GRCm39)	T440A	probably damaging	Het
Prr14	T	C	7: 127,071,128 (GRCm39)	M1T	probably null	Het
Ptger4	A	T	15: 5,273,178 (GRCm39)	M1K	probably null	Het
Ptpn22	A	T	3: 103,795,842 (GRCm39)	T608S	possibly damaging	Het
S1pr2	A	G	9: 20,879,319 (GRCm39)	W170R	probably damaging	Het
Specc1l	A	G	10: 75,066,603 (GRCm39)	I17M	probably benign	Het
Spmap1	T	A	11: 97,666,594 (GRCm39)	I31F	probably benign	Het
Sptbn4	C	G	7: 27,071,662 (GRCm39)	G1601R	probably damaging	Het
Sqor	C	T	2: 122,626,912 (GRCm39)	P11L	probably benign	Het
Stac2	T	C	11: 97,934,449 (GRCm39)	D85G	probably benign	Het
Svs5	G	A	2: 164,078,918 (GRCm39)	Q330*	probably null	Het
Taar7e	A	G	10: 23,913,554 (GRCm39)	I15V	probably benign	Het
Tcf4	A	T	18: 69,770,007 (GRCm39)	Y275F	probably damaging	Het
Tenm4	A	G	7: 96,538,046 (GRCm39)	N1873S	probably damaging	Het
Tert	T	A	13: 73,775,648 (GRCm39)	V133D	probably benign	Het
Tfap2a	T	A	13: 40,870,658 (GRCm39)	N410I	probably damaging	Het
Tjp3	A	T	10: 81,109,694 (GRCm39)	D836E	probably benign	Het
Tox3	A	T	8: 90,975,206 (GRCm39)	M475K	unknown	Het
Traf4	A	T	11: 78,050,979 (GRCm39)	D392E	probably damaging	Het
Vav2	A	G	2: 27,181,825 (GRCm39)	L338P	probably damaging	Het
Vmn1r81	T	C	7: 11,994,113 (GRCm39)	N165S	probably benign	Het
Vmn2r9	A	T	5: 108,995,409 (GRCm39)	V413E	probably damaging	Het
Wdr7	A	T	18: 63,911,059 (GRCm39)	D817V	probably damaging	Het
Zbtb38	G	A	9: 96,570,700 (GRCm39)	S128L	probably damaging	Het
Zfhx4	T	A	3: 5,464,922 (GRCm39)	H1718Q	probably damaging	Het
Zfp945	G	A	17: 23,071,228 (GRCm39)	H245Y	probably benign	Het

Other mutations in Hormad1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01653:Hormad1	APN	3	95,485,608 (GRCm39)	missense	possibly damaging	0.49
IGL01686:Hormad1	APN	3	95,485,580 (GRCm39)	missense	probably benign	0.02
IGL02023:Hormad1	APN	3	95,485,604 (GRCm39)	missense	possibly damaging	0.91
B6584:Hormad1	UTSW	3	95,478,007 (GRCm39)	splice site	probably benign
R0025:Hormad1	UTSW	3	95,492,436 (GRCm39)	unclassified	probably benign
R0662:Hormad1	UTSW	3	95,482,910 (GRCm39)	missense	probably benign	0.01
R0704:Hormad1	UTSW	3	95,473,997 (GRCm39)	critical splice donor site	probably null
R1854:Hormad1	UTSW	3	95,487,317 (GRCm39)	missense	probably benign	0.08
R2199:Hormad1	UTSW	3	95,475,033 (GRCm39)	critical splice donor site	probably null
R2371:Hormad1	UTSW	3	95,482,910 (GRCm39)	missense	probably benign	0.18
R2411:Hormad1	UTSW	3	95,487,326 (GRCm39)	missense	probably benign	0.41
R3522:Hormad1	UTSW	3	95,483,596 (GRCm39)	missense	probably benign	0.01
R4075:Hormad1	UTSW	3	95,485,514 (GRCm39)	missense	possibly damaging	0.47
R4202:Hormad1	UTSW	3	95,492,509 (GRCm39)	missense	probably benign	0.00
R4535:Hormad1	UTSW	3	95,492,452 (GRCm39)	missense	probably benign	0.00
R4536:Hormad1	UTSW	3	95,492,452 (GRCm39)	missense	probably benign	0.00
R4844:Hormad1	UTSW	3	95,478,242 (GRCm39)	missense	probably damaging	0.98
R4903:Hormad1	UTSW	3	95,492,531 (GRCm39)	splice site	probably null
R4964:Hormad1	UTSW	3	95,492,531 (GRCm39)	splice site	probably null
R5135:Hormad1	UTSW	3	95,492,531 (GRCm39)	unclassified	probably benign
R5208:Hormad1	UTSW	3	95,485,418 (GRCm39)	missense	possibly damaging	0.46
R5372:Hormad1	UTSW	3	95,483,735 (GRCm39)	missense	probably damaging	1.00
R5825:Hormad1	UTSW	3	95,469,870 (GRCm39)	missense	probably damaging	0.97
R5895:Hormad1	UTSW	3	95,467,044 (GRCm39)	critical splice donor site	probably null
R6124:Hormad1	UTSW	3	95,483,613 (GRCm39)	missense	probably benign
R6453:Hormad1	UTSW	3	95,485,568 (GRCm39)	missense	probably benign	0.02
R7308:Hormad1	UTSW	3	95,469,866 (GRCm39)	missense	probably damaging	0.99
R7373:Hormad1	UTSW	3	95,483,628 (GRCm39)	missense	probably damaging	1.00
R8744:Hormad1	UTSW	3	95,469,926 (GRCm39)	missense	possibly damaging	0.79
R9040:Hormad1	UTSW	3	95,487,470 (GRCm39)	missense	possibly damaging	0.68
R9360:Hormad1	UTSW	3	95,483,622 (GRCm39)	missense	probably benign	0.03
R9790:Hormad1	UTSW	3	95,494,693 (GRCm39)	missense	probably benign	0.13
X0025:Hormad1	UTSW	3	95,488,878 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCCCTCAGTTAAGAGATATT -3'
(R):5'- CCTTGGATTTATCTCAGGTAAACAC -3'

Sequencing Primer
(F):5'- TTAAAGTCTCACCGAGCGTG -3'
(R):5'- TTCAGAGGTACAGAAGGC -3'

Posted On

2022-11-14