Incidental Mutation 'R0662:Hormad1'
ID 61875
Institutional Source Beutler Lab
Gene Symbol Hormad1
Ensembl Gene ENSMUSG00000028109
Gene Name HORMA domain containing 1
Synonyms 4921522K05Rik, Nohma
MMRRC Submission 038847-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0662 (G1)
Quality Score 136
Status Not validated
Chromosome 3
Chromosomal Location 95466988-95494982 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 95482910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 132 (I132T)
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: I132T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029754
Gene: ENSMUSG00000028109
AA Change: I132T

DomainStartEndE-ValueType
Pfam:HORMA 24 221 4.7e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090797
AA Change: I132T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000088303
Gene: ENSMUSG00000028109
AA Change: I132T

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107154
AA Change: I132T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000102772
Gene: ENSMUSG00000028109
AA Change: I132T

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171191
AA Change: I132T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000127180
Gene: ENSMUSG00000028109
AA Change: I132T

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 91.5%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf T C 19: 31,898,338 (GRCm39) S241P probably benign Het
Ankrd53 G T 6: 83,740,625 (GRCm39) V83L probably damaging Het
Armcx2 G A X: 133,706,385 (GRCm39) T416I possibly damaging Het
C4b G A 17: 34,949,862 (GRCm39) R1441C probably damaging Het
Cacng3 T C 7: 122,367,582 (GRCm39) I154T probably damaging Het
Cand2 A G 6: 115,764,171 (GRCm39) D315G probably benign Het
Celsr2 A T 3: 108,305,836 (GRCm39) S2089R probably damaging Het
Chd9 A C 8: 91,704,304 (GRCm39) K247Q probably damaging Het
Chi3l1 A C 1: 134,116,311 (GRCm39) S263R probably damaging Het
Clec12b A C 6: 129,353,200 (GRCm39) C262W probably damaging Het
Cpsf7 T C 19: 10,503,372 (GRCm39) M1T probably null Het
Cul3 T C 1: 80,249,282 (GRCm39) D597G probably damaging Het
Dcaf11 T C 14: 55,802,964 (GRCm39) V251A possibly damaging Het
Dennd2b G T 7: 109,156,633 (GRCm39) P39Q probably damaging Het
Eno2 A T 6: 124,740,774 (GRCm39) F218I probably damaging Het
Frmd6 A T 12: 70,946,218 (GRCm39) R549* probably null Het
Fyb2 G A 4: 104,852,895 (GRCm39) S461N possibly damaging Het
Gm5709 A T 3: 59,514,164 (GRCm39) noncoding transcript Het
Itga7 G T 10: 128,789,400 (GRCm39) R981L probably damaging Het
Itgbl1 T A 14: 124,065,306 (GRCm39) N153K probably damaging Het
Itih1 T C 14: 30,655,317 (GRCm39) E626G possibly damaging Het
Kat6b AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 14: 21,712,417 (GRCm39) probably benign Het
Kcna2 A T 3: 107,012,717 (GRCm39) T433S probably benign Het
Map4k5 A G 12: 69,859,927 (GRCm39) V673A probably damaging Het
Mmp27 T A 9: 7,577,651 (GRCm39) V281E probably benign Het
Nr2c1 A T 10: 94,026,600 (GRCm39) I492F probably damaging Het
Or14c39 A G 7: 86,343,838 (GRCm39) Y58C possibly damaging Het
Or2ag19 A T 7: 106,443,856 (GRCm39) I13F probably benign Het
Or2r3 C T 6: 42,448,708 (GRCm39) V135M possibly damaging Het
Or2y3 A G 17: 38,393,824 (GRCm39) I15T probably benign Het
Or7d10 G C 9: 19,831,796 (GRCm39) C97S probably damaging Het
Or7e170 T C 9: 19,795,248 (GRCm39) M118V probably benign Het
Or8b47 T A 9: 38,435,322 (GRCm39) M98K probably damaging Het
Pank3 T C 11: 35,669,477 (GRCm39) M237T probably damaging Het
Plekhh1 A G 12: 79,125,767 (GRCm39) T1268A probably benign Het
Ptchd4 A G 17: 42,813,467 (GRCm39) Y456C probably damaging Het
Rhcg C T 7: 79,249,477 (GRCm39) V310M probably damaging Het
Ryr1 A T 7: 28,799,614 (GRCm39) D906E probably damaging Het
Sez6l A T 5: 112,621,288 (GRCm39) L262Q probably damaging Het
Shprh G A 10: 11,062,591 (GRCm39) V1233I probably damaging Het
Slc3a1 A G 17: 85,344,635 (GRCm39) E267G possibly damaging Het
Slc5a5 T A 8: 71,336,519 (GRCm39) T616S probably benign Het
Syne3 T G 12: 104,927,769 (GRCm39) E318A probably benign Het
Tecpr2 A G 12: 110,862,662 (GRCm39) T25A probably benign Het
Ubxn1 T A 19: 8,852,561 (GRCm39) probably null Het
Unc5b C A 10: 60,608,362 (GRCm39) R616L possibly damaging Het
Ush2a A G 1: 188,083,290 (GRCm39) T278A probably benign Het
Utp14b A G 1: 78,642,716 (GRCm39) T205A probably damaging Het
Vmn1r219 T C 13: 23,347,623 (GRCm39) S271P possibly damaging Het
Vmn2r76 C T 7: 85,879,578 (GRCm39) V241M probably benign Het
Zbtb24 G A 10: 41,338,275 (GRCm39) G429D probably damaging Het
Zdhhc2 T C 8: 40,900,139 (GRCm39) S68P probably damaging Het
Zfp719 G A 7: 43,233,678 (GRCm39) M32I possibly damaging Het
Zfp975 T C 7: 42,311,950 (GRCm39) N221S 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
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
Predicted Primers PCR Primer
(F):5'- TTACCCACTCTGCTGAGGTGTGACTC -3'
(R):5'- TGCTCCATTTTGAAAGCTTGTCTGAGG -3'

Sequencing Primer
(F):5'- TGAGCACTTGAAACTCCAGTAG -3'
(R):5'- gggagaggtgataaaggaagg -3'
Posted On 2013-07-30