Incidental Mutation 'IGL02570:Spag4'
ID 298969
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Spag4
Ensembl Gene ENSMUSG00000038180
Gene Name sperm associated antigen 4
Synonyms Sun4, 1700041K21Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02570
Quality Score
Status
Chromosome 2
Chromosomal Location 155907108-155911421 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 155910364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 330 (H330L)
Ref Sequence ENSEMBL: ENSMUSP00000036484 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038860] [ENSMUST00000079312] [ENSMUST00000109607] [ENSMUST00000109608] [ENSMUST00000137966] [ENSMUST00000132494] [ENSMUST00000184265] [ENSMUST00000138178]
AlphaFold Q9JJF2
Predicted Effect possibly damaging
Transcript: ENSMUST00000038860
AA Change: H330L

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000036484
Gene: ENSMUSG00000038180
AA Change: H330L

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: ENSMUST00000079312
SMART Domains Protein: ENSMUSP00000078292
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 137 242 8.76e-12 SMART
VWA 282 468 8.96e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109607
SMART Domains Protein: ENSMUSP00000105236
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 137 242 8.76e-12 SMART
VWA 282 484 9.5e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109608
SMART Domains Protein: ENSMUSP00000105237
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
C2 137 242 8.76e-12 SMART
VWA 282 484 9.5e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125996
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126513
Predicted Effect probably benign
Transcript: ENSMUST00000127956
SMART Domains Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
low complexity region 10 28 N/A INTRINSIC
low complexity region 73 172 N/A INTRINSIC
RRM 217 287 1.05e-1 SMART
RRM 343 415 2.73e-7 SMART
RRM 457 529 8.73e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133511
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142975
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184933
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136765
Predicted Effect probably benign
Transcript: ENSMUST00000131144
Predicted Effect probably benign
Transcript: ENSMUST00000137966
SMART Domains Protein: ENSMUSP00000118715
Gene: ENSMUSG00000038180

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: ENSMUST00000132494
SMART Domains Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950

DomainStartEndE-ValueType
Pfam:RRM_6 5 70 1.5e-5 PFAM
low complexity region 98 116 N/A INTRINSIC
low complexity region 161 260 N/A INTRINSIC
RRM 305 375 1.05e-1 SMART
RRM 431 503 2.73e-7 SMART
RRM 545 617 8.73e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184265
SMART Domains Protein: ENSMUSP00000138888
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
C2 6 112 3.64e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140109
SMART Domains Protein: ENSMUSP00000121998
Gene: ENSMUSG00000074643

DomainStartEndE-ValueType
Pfam:Copine 1 148 2.1e-50 PFAM
Pfam:vWA-TerF-like 5 111 2.5e-7 PFAM
low complexity region 167 185 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138178
Coding Region Coverage
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat3 T C 17: 13,159,181 (GRCm39) T3A probably benign Het
Anapc1 A C 2: 128,487,120 (GRCm39) F1087V probably damaging Het
Ccdc158 T C 5: 92,796,885 (GRCm39) T484A possibly damaging Het
Cps1 T C 1: 67,187,862 (GRCm39) probably benign Het
Fscb A G 12: 64,518,952 (GRCm39) I838T unknown Het
Gdap1 A G 1: 17,215,709 (GRCm39) Q5R probably benign Het
Gmds A G 13: 32,418,390 (GRCm39) probably benign Het
Gmfb A T 14: 47,054,904 (GRCm39) D13E probably benign Het
Gpcpd1 A T 2: 132,389,605 (GRCm39) V250D probably benign Het
Grin2b T C 6: 135,899,996 (GRCm39) D295G probably damaging Het
Igkv1-135 A T 6: 67,586,732 (GRCm39) M2L probably benign Het
Impdh1 T C 6: 29,203,197 (GRCm39) Y375C probably damaging Het
Lrpprc A G 17: 85,057,981 (GRCm39) Y750H probably damaging Het
Mab21l2 A T 3: 86,454,531 (GRCm39) S156R possibly damaging Het
Map4k4 T C 1: 40,019,739 (GRCm39) I146T probably benign Het
Pcdh18 A T 3: 49,711,074 (GRCm39) N80K probably benign Het
Pkhd1 A G 1: 20,590,480 (GRCm39) F1756L probably damaging Het
Plekhg3 A G 12: 76,625,019 (GRCm39) E1287G probably benign Het
Rev3l T A 10: 39,724,009 (GRCm39) V2647E possibly damaging Het
Rxfp4 A C 3: 88,560,149 (GRCm39) S101A probably damaging Het
Spef2 G A 15: 9,717,584 (GRCm39) R254* probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Usp16 A G 16: 87,277,781 (GRCm39) Y677C probably damaging Het
Vmn2r71 T A 7: 85,264,748 (GRCm39) W27R possibly damaging Het
Vwa5a T C 9: 38,646,167 (GRCm39) probably benign Het
Zfp935 A G 13: 62,604,792 (GRCm39) Y29H probably 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
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
R8756:Spag4 UTSW 2 155,908,493 (GRCm39) missense possibly damaging 0.94
R9025:Spag4 UTSW 2 155,910,424 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16