Incidental Mutation 'R5208:Hormad1'
ID 402139
Institutional Source Beutler Lab
Gene Symbol Hormad1
Ensembl Gene ENSMUSG00000028109
Gene Name HORMA domain containing 1
Synonyms 4921522K05Rik, Nohma
MMRRC Submission 042783-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5208 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 95466988-95494982 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95485418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 202 (V202A)
Ref Sequence ENSEMBL: ENSMUSP00000127180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029754] [ENSMUST00000090797] [ENSMUST00000107154] [ENSMUST00000171191]
AlphaFold Q9D5T7
Predicted Effect possibly damaging
Transcript: ENSMUST00000029754
AA Change: V202A

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000029754
Gene: ENSMUSG00000028109
AA Change: V202A

DomainStartEndE-ValueType
Pfam:HORMA 24 221 4.7e-63 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000090797
AA Change: V202A

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000088303
Gene: ENSMUSG00000028109
AA Change: V202A

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107154
AA Change: V202A

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000102772
Gene: ENSMUSG00000028109
AA Change: V202A

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128291
AA Change: V226A
Predicted Effect possibly damaging
Transcript: ENSMUST00000171191
AA Change: V202A

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000127180
Gene: ENSMUSG00000028109
AA Change: V202A

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,344,398 (GRCm39) N58I probably benign Het
Adgra3 T C 5: 50,168,857 (GRCm39) D163G probably damaging Het
Alcam C A 16: 52,115,411 (GRCm39) E236* probably null Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Aplf G T 6: 87,619,008 (GRCm39) probably null Het
Arl4a A T 12: 40,086,744 (GRCm39) M1K probably null Het
Asic4 A G 1: 75,427,870 (GRCm39) D132G probably damaging Het
Bbs12 T C 3: 37,374,422 (GRCm39) I290T probably benign Het
BC024139 A G 15: 76,008,865 (GRCm39) S290P probably benign Het
Bmp6 G A 13: 38,653,673 (GRCm39) A247T probably benign Het
Cadps A G 14: 12,457,711 (GRCm38) S1057P possibly damaging Het
Caprin1 A C 2: 103,599,778 (GRCm39) probably null Het
Cdc42bpg G A 19: 6,371,750 (GRCm39) R1343K probably benign Het
Cdk18 A T 1: 132,045,218 (GRCm39) probably null Het
Cenpf A T 1: 189,403,243 (GRCm39) probably null Het
Cfhr1 A T 1: 139,484,068 (GRCm39) probably null Het
Chn2 A T 6: 54,272,786 (GRCm39) I201F probably damaging Het
Chrdl2 A G 7: 99,673,129 (GRCm39) D175G probably damaging Het
Disp2 G T 2: 118,622,286 (GRCm39) R1006L probably damaging Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dnah3 C G 7: 119,631,861 (GRCm39) D1365H probably damaging Het
Efcab8 T A 2: 153,644,343 (GRCm39) Y372* probably null Het
Eftud2 G A 11: 102,732,011 (GRCm39) P768S probably damaging Het
Ehmt1 A C 2: 24,691,545 (GRCm39) S1170A probably benign Het
Gdpd4 A C 7: 97,664,118 (GRCm39) K572Q probably benign Het
Gm7356 T C 17: 14,221,456 (GRCm39) E191G probably damaging Het
Gm8674 A T 13: 50,055,957 (GRCm39) noncoding transcript Het
Gulp1 T G 1: 44,820,199 (GRCm39) H235Q probably benign Het
Inpp5b G A 4: 124,645,110 (GRCm39) D179N possibly damaging Het
Kcnk4 T A 19: 6,905,069 (GRCm39) Y194F possibly damaging Het
Lars1 A C 18: 42,350,622 (GRCm39) S896A probably benign Het
Lonp1 A G 17: 56,924,793 (GRCm39) V538A probably damaging Het
Map3k14 A T 11: 103,129,972 (GRCm39) L315Q probably damaging Het
Met T A 6: 17,526,422 (GRCm39) Y500* probably null Het
Mga T G 2: 119,778,462 (GRCm39) I2093M possibly damaging Het
Mpl T G 4: 118,313,078 (GRCm39) I152L probably benign Het
Mthfsd G A 8: 121,835,058 (GRCm39) probably benign Het
Mup4 A G 4: 59,958,119 (GRCm39) F150L probably damaging Het
Mybph T A 1: 134,121,273 (GRCm39) V11D probably benign Het
Or4f54 A T 2: 111,122,946 (GRCm39) E111V probably damaging Het
Or52n2c A G 7: 104,574,933 (GRCm39) F13L probably benign Het
Or5ak20 T A 2: 85,184,142 (GRCm39) I43F probably benign Het
Pde4a T C 9: 21,114,854 (GRCm39) probably null Het
Pex2 C T 3: 5,626,428 (GRCm39) R127H probably benign Het
Pgap3 A G 11: 98,288,874 (GRCm39) W94R probably damaging Het
Prl4a1 T C 13: 28,202,467 (GRCm39) V14A probably benign Het
Psg25 A T 7: 18,260,460 (GRCm39) I146N probably benign Het
Ptprn2 A G 12: 116,822,548 (GRCm39) Y209C probably damaging Het
Scart2 C A 7: 139,877,949 (GRCm39) A977D probably benign Het
Sema4c T A 1: 36,589,407 (GRCm39) D573V probably damaging Het
Setx A T 2: 29,056,379 (GRCm39) I2192F possibly damaging Het
Skic3 G A 13: 76,295,886 (GRCm39) E1050K possibly damaging Het
Sp4 A G 12: 118,263,281 (GRCm39) L255P probably damaging Het
Spaca7 A G 8: 12,636,456 (GRCm39) Y94C probably damaging Het
Stt3a T G 9: 36,657,891 (GRCm39) I390L possibly damaging Het
Tars2 A G 3: 95,654,905 (GRCm39) W128R probably damaging Het
Tll1 G A 8: 64,504,527 (GRCm39) T623M probably damaging Het
Tmem129 A T 5: 33,812,850 (GRCm39) V166E probably damaging Het
Tmem200a T A 10: 25,870,051 (GRCm39) I73F probably benign Het
Tnks1bp1 T C 2: 84,900,976 (GRCm39) M1561T probably damaging Het
Zfat A T 15: 68,052,570 (GRCm39) I401N probably damaging Het
Zfp142 A T 1: 74,610,027 (GRCm39) V1153E probably benign Het
Zwilch T C 9: 64,060,205 (GRCm39) I354V probably benign Het
Other mutations in Hormad1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AGAGGAGCATCTCTATATTTCAGC -3'
(R):5'- ACTCCTCAAAACCAATGTTTGCTAC -3'

Sequencing Primer
(F):5'- GGAGCATCTCTATATTTCAGCTTAGG -3'
(R):5'- CTCAAAACCAATGTTTGCTACTACTG -3'
Posted On 2016-07-22