Incidental Mutation 'IGL01653:Hormad1'
ID 102895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hormad1
Ensembl Gene ENSMUSG00000028109
Gene Name HORMA domain containing 1
Synonyms Nohma, 4921522K05Rik
Accession Numbers

Genbank: NM_026489.2; Ensembl: ENSMUST00000107154, ENSMUST00000090797, ENSMUST00000029754, ENSMUST00000171191
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01653
Quality Score
Status
Chromosome 3
Chromosomal Location 95559677-95587671 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95578297 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 265 (N265K)
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: N265K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029754
Gene: ENSMUSG00000028109
AA Change: N265K

DomainStartEndE-ValueType
Pfam:HORMA 24 221 4.7e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090797
AA Change: N265K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000088303
Gene: ENSMUSG00000028109
AA Change: N265K

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107154
AA Change: N265K

PolyPhen 2 Score 0.489 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000102772
Gene: ENSMUSG00000028109
AA Change: N265K

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171191
AA Change: N265K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000127180
Gene: ENSMUSG00000028109
AA Change: N265K

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,446,974 D119G probably damaging Het
5430403G16Rik A C 5: 109,677,316 Y89* probably null Het
Apol7c A G 15: 77,526,300 C149R probably damaging Het
Arfgef1 G A 1: 10,159,908 R1235* probably null Het
Bpifb4 A G 2: 153,944,783 D285G probably damaging Het
Cep192 T A 18: 67,852,972 H1682Q possibly damaging Het
Cerk G T 15: 86,149,351 Y290* probably null Het
Cyld A T 8: 88,741,370 I544F probably damaging Het
Dcp1a T C 14: 30,505,571 S134P possibly damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ephb4 A G 5: 137,365,741 probably benign Het
Fcgr3 A T 1: 171,059,280 L25Q probably damaging Het
Heatr3 A G 8: 88,144,617 I83V probably benign Het
Kpna1 A G 16: 36,020,192 T201A probably benign Het
Krt6b T A 15: 101,679,114 T182S probably damaging Het
Macc1 A G 12: 119,450,353 K755E probably damaging Het
Med12l C T 3: 59,261,893 T1568M probably damaging Het
Muc4 G T 16: 32,761,348 probably null Het
Myt1l T C 12: 29,910,771 S1028P unknown Het
Nhlrc2 C T 19: 56,570,850 R256C probably benign Het
Olfr1230 T A 2: 89,297,127 T48S probably benign Het
Olfr1441 G A 19: 12,422,372 R21H probably benign Het
Pfkfb4 G A 9: 108,999,134 R79H probably damaging Het
Piezo2 T C 18: 63,182,833 probably benign Het
Pramel5 C T 4: 144,273,859 R49H probably benign Het
Ralgapb T A 2: 158,462,159 S613T possibly damaging Het
Ryr1 T C 7: 29,078,597 E2158G probably damaging Het
Scgb2b19 T A 7: 33,279,728 Y43F probably damaging Het
Slc17a6 A G 7: 51,668,022 T468A possibly damaging Het
Slc36a1 A G 11: 55,228,321 D374G possibly damaging Het
Wdtc1 T C 4: 133,295,232 D601G probably damaging Het
Other mutations in Hormad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:Hormad1 APN 3 95578269 missense probably benign 0.02
IGL02023:Hormad1 APN 3 95578293 missense possibly damaging 0.91
B6584:Hormad1 UTSW 3 95570696 splice site probably benign
R0025:Hormad1 UTSW 3 95585125 unclassified probably benign
R0662:Hormad1 UTSW 3 95575599 missense probably benign 0.01
R0704:Hormad1 UTSW 3 95566686 critical splice donor site probably null
R1854:Hormad1 UTSW 3 95580006 missense probably benign 0.08
R2199:Hormad1 UTSW 3 95567722 critical splice donor site probably null
R2371:Hormad1 UTSW 3 95575599 missense probably benign 0.18
R2411:Hormad1 UTSW 3 95580015 missense probably benign 0.41
R3522:Hormad1 UTSW 3 95576285 missense probably benign 0.01
R4075:Hormad1 UTSW 3 95578203 missense possibly damaging 0.47
R4202:Hormad1 UTSW 3 95585198 missense probably benign 0.00
R4535:Hormad1 UTSW 3 95585141 missense probably benign 0.00
R4536:Hormad1 UTSW 3 95585141 missense probably benign 0.00
R4844:Hormad1 UTSW 3 95570931 missense probably damaging 0.98
R4903:Hormad1 UTSW 3 95585220 splice site probably null
R4964:Hormad1 UTSW 3 95585220 splice site probably null
R5135:Hormad1 UTSW 3 95585220 unclassified probably benign
R5208:Hormad1 UTSW 3 95578107 missense possibly damaging 0.46
R5372:Hormad1 UTSW 3 95576424 missense probably damaging 1.00
R5825:Hormad1 UTSW 3 95562559 missense probably damaging 0.97
R5895:Hormad1 UTSW 3 95559733 critical splice donor site probably null
R6124:Hormad1 UTSW 3 95576302 missense probably benign
R6453:Hormad1 UTSW 3 95578257 missense probably benign 0.02
R7308:Hormad1 UTSW 3 95562555 missense probably damaging 0.99
R7373:Hormad1 UTSW 3 95576317 missense probably damaging 1.00
R8744:Hormad1 UTSW 3 95562615 missense possibly damaging 0.79
R9040:Hormad1 UTSW 3 95580159 missense possibly damaging 0.68
R9360:Hormad1 UTSW 3 95576311 missense probably benign 0.03
X0025:Hormad1 UTSW 3 95581567 missense probably damaging 1.00
Posted On 2014-01-21