Incidental Mutation 'IGL02060:Mospd3'
ID 185373
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mospd3
Ensembl Gene ENSMUSG00000037221
Gene Name motile sperm domain containing 3
Synonyms 1190005J19Rik, R124, Gtig2, 5133401H10Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.187) question?
Stock # IGL02060
Quality Score
Status
Chromosome 5
Chromosomal Location 137594907-137599320 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 137598266 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 85 (Y85C)
Ref Sequence ENSEMBL: ENSMUSP00000116851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037620] [ENSMUST00000111007] [ENSMUST00000133705] [ENSMUST00000154708]
AlphaFold Q8BGG6
Predicted Effect probably damaging
Transcript: ENSMUST00000037620
AA Change: Y85C

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000040828
Gene: ENSMUSG00000037221
AA Change: Y85C

DomainStartEndE-ValueType
Pfam:Motile_Sperm 33 133 1.2e-17 PFAM
transmembrane domain 176 198 N/A INTRINSIC
transmembrane domain 213 232 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111007
AA Change: Y85C

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000106636
Gene: ENSMUSG00000037221
AA Change: Y85C

DomainStartEndE-ValueType
Pfam:Motile_Sperm 33 132 3.5e-17 PFAM
transmembrane domain 176 198 N/A INTRINSIC
transmembrane domain 213 232 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126904
Predicted Effect probably benign
Transcript: ENSMUST00000133705
SMART Domains Protein: ENSMUSP00000122462
Gene: ENSMUSG00000037221

DomainStartEndE-ValueType
SCOP:d1grwa_ 34 74 7e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154708
AA Change: Y85C

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000116851
Gene: ENSMUSG00000037221
AA Change: Y85C

DomainStartEndE-ValueType
Pfam:Motile_Sperm 33 132 2.3e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196366
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198801
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 multi-pass membrane protein with a major sperm protein (MSP) domain. The deletion of a similar mouse gene is associated with defective cardiac development and neonatal lethality. Alternate transcriptional splice variants, encoding different isoforms, have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice on some backgrounds display partial neonatal lethality with a thin right ventricular wall and dilated right ventricle. On other backgrounds no cardiac defects are detected. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,852,603 (GRCm39) I178F probably damaging Het
Aff1 T C 5: 103,931,715 (GRCm39) V111A possibly damaging Het
Aox1 T G 1: 58,137,114 (GRCm39) I1168R possibly damaging Het
Atf6 T C 1: 170,646,989 (GRCm39) R295G probably damaging Het
Blm C A 7: 80,164,328 (GRCm39) probably benign Het
Cse1l A T 2: 166,772,573 (GRCm39) L413F probably damaging Het
Dip2c T C 13: 9,672,666 (GRCm39) V1024A probably damaging Het
Fam13c A T 10: 70,388,971 (GRCm39) E498V probably damaging Het
Fat4 A G 3: 39,064,420 (GRCm39) E4792G probably damaging Het
Gramd1a A T 7: 30,829,996 (GRCm39) L151* probably null Het
Igbp1b G T 6: 138,634,982 (GRCm39) A154E probably damaging Het
Itga9 A G 9: 118,490,500 (GRCm39) K277R probably damaging Het
Klra10 T C 6: 130,249,688 (GRCm39) Y199C probably damaging Het
Lgalsl2 A G 7: 5,362,563 (GRCm39) T65A probably damaging Het
Nol6 C T 4: 41,117,700 (GRCm39) A887T probably damaging Het
Or4a27 A T 2: 88,559,907 (GRCm39) F12Y probably damaging Het
Or4z4 A G 19: 12,076,824 (GRCm39) Y60H probably damaging Het
Or5p57 G T 7: 107,665,878 (GRCm39) F42L probably benign Het
Or9g4 C T 2: 85,505,178 (GRCm39) V106I probably benign Het
Pcdhb17 A G 18: 37,619,469 (GRCm39) T420A probably damaging Het
Pgghg T C 7: 140,526,546 (GRCm39) V646A probably benign Het
Prkg2 A G 5: 99,172,374 (GRCm39) S114P probably benign Het
Rela G T 19: 5,688,628 (GRCm39) K28N probably damaging Het
Rhbdf2 G T 11: 116,491,452 (GRCm39) A598E probably damaging Het
Ryr2 C T 13: 11,762,450 (GRCm39) D1454N probably damaging Het
Sdk1 C T 5: 141,938,767 (GRCm39) L397F possibly damaging Het
Sh3pxd2a C T 19: 47,361,817 (GRCm39) probably benign Het
Slc9a2 T A 1: 40,795,453 (GRCm39) V518E probably damaging Het
Slco1a7 T A 6: 141,700,134 (GRCm39) M133L probably benign Het
Snapc1 A G 12: 74,014,810 (GRCm39) Y105C probably damaging Het
Sult2a8 A G 7: 14,159,326 (GRCm39) S98P probably damaging Het
Tmem30c T A 16: 57,111,261 (GRCm39) M4L probably benign Het
Trim71 T C 9: 114,342,321 (GRCm39) I654V possibly damaging Het
Uroc1 A G 6: 90,315,237 (GRCm39) S133G probably benign Het
Vmn2r100 A G 17: 19,741,516 (GRCm39) N76S possibly damaging Het
Zcchc14 T C 8: 122,330,634 (GRCm39) S910G probably damaging Het
Other mutations in Mospd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0450:Mospd3 UTSW 5 137,595,294 (GRCm39) missense probably damaging 1.00
R1902:Mospd3 UTSW 5 137,598,677 (GRCm39) missense probably damaging 1.00
R4718:Mospd3 UTSW 5 137,597,915 (GRCm39) missense probably benign 0.00
R5704:Mospd3 UTSW 5 137,598,613 (GRCm39) missense possibly damaging 0.46
R7874:Mospd3 UTSW 5 137,598,290 (GRCm39) missense probably damaging 1.00
R9085:Mospd3 UTSW 5 137,598,870 (GRCm39) unclassified probably benign
Posted On 2014-05-07