Incidental Mutation 'R9137:Spem1'
ID 694095
Institutional Source Beutler Lab
Gene Symbol Spem1
Ensembl Gene ENSMUSG00000041165
Gene Name spermatid maturation 1
Synonyms 1700095G12Rik
MMRRC Submission 068932-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R9137 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 69711697-69712991 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 69712433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 77 (V77A)
Ref Sequence ENSEMBL: ENSMUSP00000037500 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045771] [ENSMUST00000056484] [ENSMUST00000056941] [ENSMUST00000108634]
AlphaFold Q5F289
Predicted Effect probably benign
Transcript: ENSMUST00000045771
AA Change: V77A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037500
Gene: ENSMUSG00000041165
AA Change: V77A

DomainStartEndE-ValueType
Pfam:Spem1 12 196 3.7e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000056484
SMART Domains Protein: ENSMUSP00000053097
Gene: ENSMUSG00000051790

DomainStartEndE-ValueType
Pfam:COesterase 31 601 1.6e-199 PFAM
Pfam:Abhydrolase_3 180 372 4.8e-9 PFAM
low complexity region 630 652 N/A INTRINSIC
transmembrane domain 678 700 N/A INTRINSIC
low complexity region 702 712 N/A INTRINSIC
low complexity region 713 731 N/A INTRINSIC
low complexity region 782 823 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000056941
SMART Domains Protein: ENSMUSP00000051204
Gene: ENSMUSG00000044084

DomainStartEndE-ValueType
Pfam:Spem1 1 261 2e-121 PFAM
low complexity region 281 294 N/A INTRINSIC
low complexity region 478 494 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108634
SMART Domains Protein: ENSMUSP00000104274
Gene: ENSMUSG00000051790

DomainStartEndE-ValueType
Pfam:COesterase 30 601 2e-186 PFAM
Pfam:Abhydrolase_3 180 327 3.3e-9 PFAM
low complexity region 630 652 N/A INTRINSIC
transmembrane domain 678 700 N/A INTRINSIC
low complexity region 702 712 N/A INTRINSIC
low complexity region 713 731 N/A INTRINSIC
low complexity region 782 823 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (55/55)
MGI Phenotype PHENOTYPE: Male mice homozygous for a null allele display infertility, asthenozoospermia, teratozoospermia, and impaired spermiogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A G 16: 4,685,312 (GRCm39) K299R probably benign Het
Abca12 T G 1: 71,298,525 (GRCm39) I2366L possibly damaging Het
Adgrv1 A G 13: 81,688,133 (GRCm39) V1749A probably damaging Het
Ano9 C T 7: 140,684,028 (GRCm39) V546M probably damaging Het
Atad5 A T 11: 79,986,481 (GRCm39) S523C probably damaging Het
Cacna1s A T 1: 135,996,744 (GRCm39) D115V possibly damaging Het
Ccdc18 T G 5: 108,296,856 (GRCm39) C220G probably damaging Het
Cfap61 A C 2: 146,042,685 (GRCm39) K1153Q probably benign Het
Cmklr1 G C 5: 113,752,043 (GRCm39) H319Q probably benign Het
Cntnap5c T A 17: 58,601,203 (GRCm39) probably benign Het
Col11a1 A G 3: 113,855,172 (GRCm39) K144R unknown Het
Cr2 A G 1: 194,850,640 (GRCm39) probably null Het
Cyp3a16 A C 5: 145,406,413 (GRCm39) V13G unknown Het
E330034G19Rik A G 14: 24,346,109 (GRCm39) N72D unknown Het
Enah A G 1: 181,739,160 (GRCm39) probably null Het
Fezf1 T A 6: 23,246,511 (GRCm39) probably benign Het
Gabrr2 T A 4: 33,095,571 (GRCm39) S487T probably benign Het
Gas2l2 G A 11: 83,315,894 (GRCm39) T275M probably damaging Het
Hectd4 A G 5: 121,496,238 (GRCm39) K3877E possibly damaging Het
Hhla1 G T 15: 65,795,761 (GRCm39) Q482K probably damaging Het
Hivep2 A G 10: 14,004,712 (GRCm39) T437A probably benign Het
Iars1 C T 13: 49,855,350 (GRCm39) T259M probably benign Het
Il18rap C T 1: 40,582,177 (GRCm39) T366M probably benign Het
Itpk1 T C 12: 102,540,291 (GRCm39) E264G probably benign Het
Katnb1 G A 8: 95,824,320 (GRCm39) M501I possibly damaging Het
Kcna10 G A 3: 107,102,497 (GRCm39) G376E probably damaging Het
Kif23 A T 9: 61,834,713 (GRCm39) F397I probably damaging Het
Klf14 A T 6: 30,934,855 (GRCm39) C260S probably damaging Het
Lgi2 T A 5: 52,695,361 (GRCm39) S533C probably damaging Het
Marveld1 A G 19: 42,136,440 (GRCm39) D118G probably benign Het
Msln C T 17: 25,969,084 (GRCm39) A434T probably benign Het
Neb T C 2: 52,150,502 (GRCm39) probably benign Het
Nes G T 3: 87,878,651 (GRCm39) G48W probably damaging Het
Or5k3 T A 16: 58,969,635 (GRCm39) C141S probably benign Het
Osmr T A 15: 6,856,709 (GRCm39) E479D probably benign Het
Otop3 A G 11: 115,235,868 (GRCm39) H500R possibly damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Phldb3 C T 7: 24,310,723 (GRCm39) probably benign Het
Ppp4r3a T A 12: 101,021,794 (GRCm39) I369F possibly damaging Het
Rarres1 T A 3: 67,422,801 (GRCm39) probably benign Het
Scn4a A G 11: 106,214,736 (GRCm39) V1287A probably damaging Het
Sertad2 A T 11: 20,598,425 (GRCm39) E207V probably benign Het
Sh3bp4 T A 1: 89,072,647 (GRCm39) C498* probably null Het
Smtn T G 11: 3,472,838 (GRCm39) K278T possibly damaging Het
Sp140 T C 1: 85,570,297 (GRCm39) S405P probably damaging Het
Spata31e2 A T 1: 26,724,715 (GRCm39) I155N probably benign Het
St8sia2 T G 7: 73,610,654 (GRCm39) I210L probably benign Het
Stkld1 T C 2: 26,840,572 (GRCm39) I418T probably benign Het
Tpcn1 A G 5: 120,695,990 (GRCm39) F88L probably damaging Het
Trim66 C T 7: 109,074,330 (GRCm39) V644M probably damaging Het
Ttc41 T C 10: 86,612,486 (GRCm39) I1253T probably benign Het
Vmn2r86 T C 10: 130,282,409 (GRCm39) N736D probably damaging Het
Zfat T A 15: 68,051,794 (GRCm39) T667S probably benign Het
Zfp874a T C 13: 67,590,841 (GRCm39) E281G probably damaging Het
Other mutations in Spem1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00902:Spem1 APN 11 69,712,643 (GRCm39) missense probably damaging 1.00
R0118:Spem1 UTSW 11 69,712,371 (GRCm39) missense possibly damaging 0.92
R0487:Spem1 UTSW 11 69,712,691 (GRCm39) critical splice acceptor site probably null
R0734:Spem1 UTSW 11 69,712,097 (GRCm39) missense probably damaging 1.00
R2483:Spem1 UTSW 11 69,712,344 (GRCm39) missense possibly damaging 0.95
R4522:Spem1 UTSW 11 69,712,631 (GRCm39) critical splice donor site probably null
R4866:Spem1 UTSW 11 69,711,755 (GRCm39) missense probably damaging 1.00
R5297:Spem1 UTSW 11 69,711,753 (GRCm39) missense probably damaging 1.00
R5404:Spem1 UTSW 11 69,711,763 (GRCm39) missense probably damaging 1.00
R5672:Spem1 UTSW 11 69,712,263 (GRCm39) missense probably damaging 1.00
R5989:Spem1 UTSW 11 69,711,951 (GRCm39) missense possibly damaging 0.65
R6803:Spem1 UTSW 11 69,711,974 (GRCm39) missense possibly damaging 0.84
R7234:Spem1 UTSW 11 69,712,630 (GRCm39) critical splice donor site probably null
R7631:Spem1 UTSW 11 69,712,409 (GRCm39) missense probably benign 0.00
R9321:Spem1 UTSW 11 69,712,661 (GRCm39) missense probably benign 0.01
R9373:Spem1 UTSW 11 69,712,640 (GRCm39) missense probably benign 0.01
R9461:Spem1 UTSW 11 69,711,741 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- TCATCATCAGTATCAGGGGCCC -3'
(R):5'- CGCATCCTCTTACACCGAATG -3'

Sequencing Primer
(F):5'- TATCAGGGGCCCAAGCTATG -3'
(R):5'- CACCGAATGTTCCATATCATTTGTG -3'
Posted On 2022-01-20