Incidental Mutation 'R8756:Spag4'
ID 664152
Institutional Source Beutler Lab
Gene Symbol Spag4
Ensembl Gene ENSMUSG00000038180
Gene Name sperm associated antigen 4
Synonyms Sun4, 1700041K21Rik
MMRRC Submission 068597-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8756 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 155907108-155911421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 155908493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 141 (L141P)
Ref Sequence ENSEMBL: ENSMUSP00000036484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038860] [ENSMUST00000137966] [ENSMUST00000138178]
AlphaFold Q9JJF2
Predicted Effect possibly damaging
Transcript: ENSMUST00000038860
AA Change: L141P

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036484
Gene: ENSMUSG00000038180
AA Change: L141P

DomainStartEndE-ValueType
low complexity region 2 13 N/A INTRINSIC
low complexity region 19 37 N/A INTRINSIC
transmembrane domain 137 159 N/A INTRINSIC
transmembrane domain 166 188 N/A INTRINSIC
low complexity region 214 222 N/A INTRINSIC
Pfam:Sad1_UNC 293 426 1.9e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131144
Predicted Effect possibly damaging
Transcript: ENSMUST00000137966
AA Change: L47P

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118715
Gene: ENSMUSG00000038180
AA Change: L47P

DomainStartEndE-ValueType
transmembrane domain 43 65 N/A INTRINSIC
transmembrane domain 72 94 N/A INTRINSIC
coiled coil region 112 147 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138178
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mammalian sperm flagellum contains two cytoskeletal structures associated with the axoneme: the outer dense fibers surrounding the axoneme in the midpiece and principal piece and the fibrous sheath surrounding the outer dense fibers in the principal piece of the tail. Defects in these structures are associated with abnormal tail morphology, reduced sperm motility, and infertility. In the rat, the protein encoded by this gene associates with an outer dense fiber protein via a leucine zipper motif and localizes to the microtubules of the manchette and axoneme during sperm tail development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele show disrupted spermiogenesis, severe defects in sperm head formation, abnormal manchette morphology, globozoospermia, and male infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxr1 A T 6: 87,165,235 (GRCm39) S401T probably damaging Het
Armh1 T A 4: 117,094,861 (GRCm39) I60L probably benign Het
Atp8b5 T C 4: 43,342,439 (GRCm39) V370A probably damaging Het
Atraid T A 5: 31,211,385 (GRCm39) Y184N probably damaging Het
Cp G C 3: 20,059,736 (GRCm39) probably null Het
Crebbp A G 16: 3,903,767 (GRCm39) I1824T probably benign Het
Cyp2c65 A T 19: 39,049,552 (GRCm39) R27* probably null Het
Dtl T C 1: 191,271,371 (GRCm39) H725R probably benign Het
Dync1h1 G T 12: 110,583,261 (GRCm39) A453S probably benign Het
Fat3 T A 9: 16,287,885 (GRCm39) D546V probably damaging Het
Flt1 T C 5: 147,576,224 (GRCm39) T595A probably benign Het
Gtf2ird2 C T 5: 134,226,090 (GRCm39) P179S possibly damaging Het
Hoga1 A G 19: 42,048,716 (GRCm39) I145V probably benign Het
Igfn1 G T 1: 135,895,698 (GRCm39) Q1623K probably benign Het
Jsrp1 T A 10: 80,647,940 (GRCm39) probably null Het
Krt90 A C 15: 101,470,779 (GRCm39) probably null Het
Lrch3 T A 16: 32,808,810 (GRCm39) S514T probably benign Het
Mad2l1 T C 6: 66,512,569 (GRCm39) V20A probably damaging Het
Malrd1 T C 2: 15,757,706 (GRCm39) probably null Het
Matn2 A C 15: 34,423,876 (GRCm39) E578A possibly damaging Het
Myof A T 19: 37,928,400 (GRCm39) W1050R probably benign Het
Nemp1 T A 10: 127,528,845 (GRCm39) I183N probably benign Het
Nid1 A G 13: 13,683,386 (GRCm39) T1155A probably benign Het
Nsd1 T C 13: 55,461,506 (GRCm39) S2681P probably benign Het
Onecut3 C A 10: 80,349,750 (GRCm39) R415S probably damaging Het
Or2d2 T C 7: 106,728,019 (GRCm39) T194A probably benign Het
Or4s2 T A 2: 88,473,183 (GRCm39) V24E possibly damaging Het
Pclo T A 5: 14,764,398 (GRCm39) S1005R Het
Ppp1r16b G A 2: 158,593,098 (GRCm39) D226N probably damaging Het
R3hcc1l G A 19: 42,552,073 (GRCm39) V357M probably damaging Het
Sec63 C T 10: 42,686,905 (GRCm39) T475M possibly damaging Het
Serpinh1 A G 7: 98,996,359 (GRCm39) Y242H probably damaging Het
Slit2 G T 5: 48,459,829 (GRCm39) E1370* probably null Het
Sos2 C A 12: 69,695,310 (GRCm39) L142F probably damaging Het
Sun1 T C 5: 139,222,444 (GRCm39) L570P probably damaging Het
Tars2 A G 3: 95,648,672 (GRCm39) V662A probably benign Het
Tmem245 C A 4: 56,899,025 (GRCm39) probably null Het
Tpp2 T A 1: 43,999,295 (GRCm39) Y356* probably null Het
Trafd1 T C 5: 121,513,878 (GRCm39) E303G probably damaging Het
Trim71 T C 9: 114,342,605 (GRCm39) E559G possibly damaging Het
Ush2a T A 1: 188,644,141 (GRCm39) V4501E possibly damaging Het
Vegfa T C 17: 46,342,465 (GRCm39) T118A probably damaging Het
Vmn2r124 A T 17: 18,294,094 (GRCm39) H727L probably benign Het
Zdhhc2 T A 8: 40,920,551 (GRCm39) V270E probably damaging Het
Zfp112 T C 7: 23,824,997 (GRCm39) S326P probably benign Het
Zfp37 T C 4: 62,110,371 (GRCm39) D272G possibly damaging Het
Other mutations in Spag4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01409:Spag4 APN 2 155,911,252 (GRCm39) missense possibly damaging 0.88
IGL01843:Spag4 APN 2 155,910,417 (GRCm39) missense probably benign 0.04
IGL02200:Spag4 APN 2 155,908,517 (GRCm39) missense probably benign 0.14
IGL02506:Spag4 APN 2 155,911,142 (GRCm39) missense probably damaging 1.00
IGL02570:Spag4 APN 2 155,910,364 (GRCm39) missense possibly damaging 0.60
IGL03302:Spag4 APN 2 155,910,340 (GRCm39) missense probably damaging 0.97
R0127:Spag4 UTSW 2 155,909,962 (GRCm39) missense probably damaging 0.99
R0314:Spag4 UTSW 2 155,909,229 (GRCm39) unclassified probably benign
R0441:Spag4 UTSW 2 155,909,899 (GRCm39) missense probably damaging 1.00
R1699:Spag4 UTSW 2 155,907,342 (GRCm39) missense probably damaging 1.00
R5270:Spag4 UTSW 2 155,907,853 (GRCm39) intron probably benign
R5293:Spag4 UTSW 2 155,908,111 (GRCm39) missense probably benign 0.07
R6092:Spag4 UTSW 2 155,907,696 (GRCm39) intron probably benign
R7138:Spag4 UTSW 2 155,908,519 (GRCm39) missense probably benign 0.00
R7300:Spag4 UTSW 2 155,907,541 (GRCm39) missense probably benign 0.06
R7898:Spag4 UTSW 2 155,911,244 (GRCm39) missense probably damaging 1.00
R9025:Spag4 UTSW 2 155,910,424 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TCAGCTCATTTCCCCAAACG -3'
(R):5'- TTTCCCTAAAGAACAGGAGTGG -3'

Sequencing Primer
(F):5'- AACGACCCTTGCCTCCTGAG -3'
(R):5'- AGTGGAAGCTGCTGCCTAG -3'
Posted On 2021-03-08