Incidental Mutation 'IGL01686:Hormad1'
ID 103970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hormad1
Ensembl Gene ENSMUSG00000028109
Gene Name HORMA domain containing 1
Synonyms 4921522K05Rik, Nohma
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01686
Quality Score
Status
Chromosome 3
Chromosomal Location 95466988-95494982 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 95485580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 256 (M256R)
Ref Sequence ENSEMBL: ENSMUSP00000102772 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029754] [ENSMUST00000090797] [ENSMUST00000107154] [ENSMUST00000171191]
AlphaFold Q9D5T7
Predicted Effect probably benign
Transcript: ENSMUST00000029754
AA Change: M256R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029754
Gene: ENSMUSG00000028109
AA Change: M256R

DomainStartEndE-ValueType
Pfam:HORMA 24 221 4.7e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090797
AA Change: M256R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000088303
Gene: ENSMUSG00000028109
AA Change: M256R

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107154
AA Change: M256R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000102772
Gene: ENSMUSG00000028109
AA Change: M256R

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171191
AA Change: M256R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127180
Gene: ENSMUSG00000028109
AA Change: M256R

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,548,801 (GRCm39) V1316A possibly damaging Het
Ada T G 2: 163,572,236 (GRCm39) K254N probably benign Het
Adamts17 A G 7: 66,490,037 (GRCm39) R40G probably benign Het
Akr1d1 C T 6: 37,507,178 (GRCm39) probably benign Het
Aldh1l1 T A 6: 90,536,215 (GRCm39) probably benign Het
Bbox1 T A 2: 110,095,831 (GRCm39) I378F probably benign Het
BC028528 T C 3: 95,796,212 (GRCm39) N50S probably damaging Het
Casp8ap2 T A 4: 32,641,294 (GRCm39) S783T possibly damaging Het
Cmpk2 C T 12: 26,527,177 (GRCm39) R389W probably damaging Het
Cplx1 C T 5: 108,696,393 (GRCm39) probably null Het
Crim1 T C 17: 78,651,863 (GRCm39) L529P probably benign Het
Ctps1 A G 4: 120,411,183 (GRCm39) S278P probably benign Het
Defb21 C A 2: 152,416,821 (GRCm39) probably benign Het
Ecm1 T A 3: 95,643,376 (GRCm39) N308I probably benign Het
Flg2 T C 3: 93,109,591 (GRCm39) S540P unknown Het
Gabrp G T 11: 33,502,826 (GRCm39) S346* probably null Het
Gli2 C A 1: 118,776,165 (GRCm39) C419F probably damaging Het
Grid2 T A 6: 64,297,180 (GRCm39) F514L probably benign Het
Itsn2 T G 12: 4,686,693 (GRCm39) probably benign Het
Klhl38 A T 15: 58,186,707 (GRCm39) D7E probably benign Het
Map3k1 G A 13: 111,891,196 (GRCm39) T1248I possibly damaging Het
Mki67 A T 7: 135,309,542 (GRCm39) V303E probably benign Het
Mterf4 A T 1: 93,232,443 (GRCm39) L136* probably null Het
Mtmr14 A G 6: 113,217,391 (GRCm39) D61G possibly damaging Het
Nf2 A T 11: 4,768,613 (GRCm39) D85E probably benign Het
Nmnat2 G T 1: 152,952,743 (GRCm39) probably benign Het
Olfm3 T A 3: 114,916,497 (GRCm39) D476E probably benign Het
Or14c45 T C 7: 86,175,986 (GRCm39) V7A probably benign Het
Or8b53 T A 9: 38,667,550 (GRCm39) C189S probably damaging Het
Pdia6 T C 12: 17,333,958 (GRCm39) probably benign Het
Prrg1 G A X: 77,527,388 (GRCm39) A47V probably damaging Het
Rgs22 A T 15: 36,103,981 (GRCm39) I160K probably benign Het
Sardh T C 2: 27,079,625 (GRCm39) Y889C probably damaging Het
Syne2 C A 12: 75,956,110 (GRCm39) D605E probably benign Het
Other mutations in Hormad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01653:Hormad1 APN 3 95,485,608 (GRCm39) missense possibly damaging 0.49
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
R9791: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
Posted On 2014-01-21