Incidental Mutation 'R4903:Hormad1'
ID 377928
Institutional Source Beutler Lab
Gene Symbol Hormad1
Ensembl Gene ENSMUSG00000028109
Gene Name HORMA domain containing 1
Synonyms 4921522K05Rik, Nohma
MMRRC Submission 042506-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4903 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 95466988-95494982 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to A at 95492531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029754] [ENSMUST00000060323] [ENSMUST00000090797] [ENSMUST00000098861] [ENSMUST00000107154] [ENSMUST00000171191] [ENSMUST00000177390]
AlphaFold Q9D5T7
Predicted Effect probably null
Transcript: ENSMUST00000029754
SMART Domains Protein: ENSMUSP00000029754
Gene: ENSMUSG00000028109

DomainStartEndE-ValueType
Pfam:HORMA 24 221 4.7e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060323
SMART Domains Protein: ENSMUSP00000058654
Gene: ENSMUSG00000046519

DomainStartEndE-ValueType
Pfam:GPP34 50 275 8.5e-54 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000090797
SMART Domains Protein: ENSMUSP00000088303
Gene: ENSMUSG00000028109

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098861
SMART Domains Protein: ENSMUSP00000096460
Gene: ENSMUSG00000046519

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000107154
SMART Domains Protein: ENSMUSP00000102772
Gene: ENSMUSG00000028109

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000171191
SMART Domains Protein: ENSMUSP00000127180
Gene: ENSMUSG00000028109

DomainStartEndE-ValueType
Pfam:HORMA 23 221 5.4e-60 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198013
Predicted Effect probably benign
Transcript: ENSMUST00000177390
SMART Domains Protein: ENSMUSP00000134799
Gene: ENSMUSG00000046519

DomainStartEndE-ValueType
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: ENSMUST00000177389
Predicted Effect probably benign
Transcript: ENSMUST00000176755
SMART Domains Protein: ENSMUSP00000134804
Gene: ENSMUSG00000046519

DomainStartEndE-ValueType
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: ENSMUST00000176541
Predicted Effect probably benign
Transcript: ENSMUST00000177399
SMART Domains Protein: ENSMUSP00000134998
Gene: ENSMUSG00000046519

DomainStartEndE-ValueType
Pfam:GPP34 23 170 5.4e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176674
SMART Domains Protein: ENSMUSP00000134885
Gene: ENSMUSG00000046519

DomainStartEndE-ValueType
low complexity region 58 69 N/A INTRINSIC
low complexity region 72 83 N/A INTRINSIC
Pfam:GPP34 104 288 2.4e-39 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.8%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G T 5: 138,645,119 (GRCm39) E335* probably null Het
Abca9 A G 11: 110,037,827 (GRCm39) Y508H probably damaging Het
Abcc9 A T 6: 142,546,691 (GRCm39) L1347H probably damaging Het
Acox3 A G 5: 35,747,080 (GRCm39) N166D probably damaging Het
Adam5 T C 8: 25,276,248 (GRCm39) Y473C probably damaging Het
Agbl2 A G 2: 90,627,817 (GRCm39) I207M possibly damaging Het
Akna C A 4: 63,292,274 (GRCm39) R1130S probably damaging Het
Alg12 A T 15: 88,698,743 (GRCm39) I194N probably damaging Het
Alk T A 17: 72,176,558 (GRCm39) H1582L probably damaging Het
Atn1 G C 6: 124,720,220 (GRCm39) probably benign Het
Carhsp1 T C 16: 8,478,864 (GRCm39) T130A probably damaging Het
Chrna3 T C 9: 54,922,810 (GRCm39) T333A probably benign Het
Ctsr T A 13: 61,310,945 (GRCm39) I34L probably benign Het
Cxcl16 A G 11: 70,346,519 (GRCm39) V208A probably benign Het
Dars2 G C 1: 160,878,941 (GRCm39) P362R probably benign Het
Dnah10 A G 5: 124,894,812 (GRCm39) E3459G probably damaging Het
Dus2 G A 8: 106,771,437 (GRCm39) D188N probably benign Het
Ece2 C T 16: 20,449,972 (GRCm39) R189* probably null Het
Egfr A T 11: 16,858,949 (GRCm39) D976V probably damaging Het
Egr2 T A 10: 67,374,163 (GRCm39) I51N probably damaging Het
Exoc3l4 A G 12: 111,395,155 (GRCm39) H591R probably benign Het
G2e3 A G 12: 51,418,413 (GRCm39) I603V probably benign Het
Gm11564 A C 11: 99,705,858 (GRCm39) C191G unknown Het
Gpatch8 A G 11: 102,370,959 (GRCm39) S860P unknown Het
Gprin1 C G 13: 54,885,742 (GRCm39) W844S probably damaging Het
Hhipl2 T A 1: 183,207,698 (GRCm39) Y252* probably null Het
Hrg A G 16: 22,779,901 (GRCm39) probably benign Het
Hsh2d C T 8: 72,947,372 (GRCm39) A23V probably benign Het
Ints6 A G 14: 62,939,911 (GRCm39) L593P probably damaging Het
Jak2 A G 19: 29,252,436 (GRCm39) S129G probably benign Het
Kif1a C T 1: 92,949,456 (GRCm39) E1579K probably damaging Het
Lhcgr A T 17: 89,049,789 (GRCm39) I579N probably damaging Het
Lrig3 A T 10: 125,832,482 (GRCm39) probably null Het
Man2c1 C A 9: 57,046,240 (GRCm39) Q465K probably benign Het
Map3k5 T A 10: 19,994,235 (GRCm39) L1043Q probably null Het
Map4k1 A T 7: 28,682,427 (GRCm39) H16L probably benign Het
Mapk8ip3 A G 17: 25,120,183 (GRCm39) S946P probably benign Het
Mrpl50 T C 4: 49,514,488 (GRCm39) Y61C probably damaging Het
Myf5 A T 10: 107,321,733 (GRCm39) C20* probably null Het
Nek11 T C 9: 105,191,921 (GRCm39) K163R possibly damaging Het
Or1l4b A T 2: 37,036,383 (GRCm39) H53L probably benign Het
Or4c105 A T 2: 88,648,342 (GRCm39) I276L probably benign Het
Pcdhga9 C A 18: 37,872,058 (GRCm39) T629K probably damaging Het
Pglyrp1 A G 7: 18,624,128 (GRCm39) N137S probably benign Het
Pip5k1a T C 3: 94,978,094 (GRCm39) I275V probably benign Het
Pitpnm2 T A 5: 124,290,668 (GRCm39) Y6F probably damaging Het
Pkd1 T G 17: 24,790,976 (GRCm39) V1057G probably benign Het
Plcb3 C A 19: 6,933,211 (GRCm39) R970L probably damaging Het
Plekha5 T A 6: 140,532,093 (GRCm39) M586K probably damaging Het
Ppp4r4 T A 12: 103,557,030 (GRCm39) probably null Het
Rasal3 C T 17: 32,616,357 (GRCm39) C278Y probably damaging Het
Rbm34 T C 8: 127,678,087 (GRCm39) D269G possibly damaging Het
Rnf32 G A 5: 29,403,576 (GRCm39) R7H probably benign Het
Sema3d A G 5: 12,613,125 (GRCm39) K401E probably benign Het
Sema7a T C 9: 57,862,378 (GRCm39) Y194H probably benign Het
Senp5 A T 16: 31,802,117 (GRCm39) Y585N probably damaging Het
Serpinb9 T A 13: 33,192,847 (GRCm39) W135R probably damaging Het
Shbg C T 11: 69,505,912 (GRCm39) S365N probably benign Het
Slc39a6 A T 18: 24,730,925 (GRCm39) S65T probably damaging Het
Stk3 T C 15: 34,959,212 (GRCm39) E320G probably damaging Het
Syk T A 13: 52,765,117 (GRCm39) H81Q probably damaging Het
Tet1 A G 10: 62,658,437 (GRCm39) W1470R probably damaging Het
Thada C A 17: 84,559,828 (GRCm39) V1450L possibly damaging Het
Tmem241 A G 18: 12,237,176 (GRCm39) S87P probably damaging Het
Trdv1 T A 14: 54,119,375 (GRCm39) probably benign Het
Trim40 T C 17: 37,194,117 (GRCm39) E192G possibly damaging Het
Trip11 A T 12: 101,853,065 (GRCm39) probably null Het
Trmt2a T A 16: 18,067,418 (GRCm39) C30* probably null Het
Tshr A G 12: 91,367,962 (GRCm39) D35G probably benign Het
Tssc4 T C 7: 142,624,322 (GRCm39) V210A probably damaging Het
Ttk T A 9: 83,747,201 (GRCm39) I680N probably benign Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Txnl4a T C 18: 80,250,493 (GRCm39) F30L probably damaging Het
Ubac2 G T 14: 122,231,650 (GRCm39) C192F probably benign Het
Vmn1r12 A G 6: 57,136,502 (GRCm39) T156A possibly damaging Het
Zfp747l1 T A 7: 126,984,578 (GRCm39) T175S 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
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'- AGCATCTGAGTTATGTGTCAGTGTAAC -3'
(R):5'- CACTCAGGTGCATTTATCTGTGC -3'

Sequencing Primer
(F):5'- TCAACTGTTGCCTGTTTG -3'
(R):5'- TGCATTTATCTGTGCAGAAACAC -3'
Posted On 2016-04-15