Incidental Mutation 'IGL00990:Speer4b'
ID306685
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Speer4b
Ensembl Gene ENSMUSG00000048703
Gene Namespermatogenesis associated glutamate (E)-rich protein 4B
Synonyms1700081O22Rik, SPEER-4B
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL00990
Quality Score
Status
Chromosome5
Chromosomal Location27495639-27501438 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 27501274 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 30 (P30S)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053257] [ENSMUST00000071500] [ENSMUST00000101471] [ENSMUST00000120555] [ENSMUST00000122171]
Predicted Effect probably benign
Transcript: ENSMUST00000053257
AA Change: P32S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000062903
Gene: ENSMUSG00000048703
AA Change: P32S

DomainStartEndE-ValueType
Pfam:Takusan 50 134 9.6e-27 PFAM
low complexity region 154 168 N/A INTRINSIC
low complexity region 235 259 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071500
SMART Domains Protein: ENSMUSP00000071435
Gene: ENSMUSG00000061576

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
Pfam:DPPIV_N 134 500 7.2e-114 PFAM
Pfam:PD40 365 402 1.1e-5 PFAM
Pfam:Peptidase_S9 579 789 2.9e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101471
SMART Domains Protein: ENSMUSP00000099012
Gene: ENSMUSG00000061576

DomainStartEndE-ValueType
transmembrane domain 34 56 N/A INTRINSIC
Pfam:DPPIV_N 133 499 2.6e-114 PFAM
Pfam:PD40 364 401 9.3e-6 PFAM
Pfam:Peptidase_S9 578 788 1.9e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120555
SMART Domains Protein: ENSMUSP00000113849
Gene: ENSMUSG00000061576

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
Pfam:DPPIV_N 131 497 2.6e-114 PFAM
Pfam:PD40 362 399 9.2e-6 PFAM
Pfam:Peptidase_S9 576 786 1.9e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122171
SMART Domains Protein: ENSMUSP00000113441
Gene: ENSMUSG00000061576

DomainStartEndE-ValueType
low complexity region 50 62 N/A INTRINSIC
transmembrane domain 90 112 N/A INTRINSIC
Pfam:DPPIV_N 189 555 6.4e-113 PFAM
Pfam:PD40 425 457 1.1e-4 PFAM
Pfam:Peptidase_S9 634 844 4.3e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124535
Predicted Effect probably damaging
Transcript: ENSMUST00000155721
AA Change: P30S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000122872
Gene: ENSMUSG00000048703
AA Change: P30S

DomainStartEndE-ValueType
Pfam:Takusan 49 133 6.2e-27 PFAM
low complexity region 153 167 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 150 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430531B16Rik A C 7: 139,978,103 V60G probably damaging Het
Adcy8 C A 15: 64,822,313 V372L probably benign Het
Bod1l T C 5: 41,828,865 D458G probably benign Het
C87414 T A 5: 93,636,477 Q376L probably damaging Het
Cacna1c G T 6: 118,613,295 H1416N probably damaging Het
Cacna2d1 T C 5: 15,935,069 I19T probably benign Het
Cadps T A 14: 12,715,374 T153S possibly damaging Het
Cd200r1 A T 16: 44,794,309 D317V possibly damaging Het
Dcaf5 C T 12: 80,338,832 R840H probably benign Het
Dnhd1 A C 7: 105,721,688 H4725P possibly damaging Het
Echdc3 C A 2: 6,195,727 L149F probably benign Het
Efhb T G 17: 53,462,621 Q220P possibly damaging Het
Efr3b A T 12: 3,975,411 Y18* probably null Het
Eri1 T C 8: 35,482,682 K41R possibly damaging Het
Eri1 C A 8: 35,482,646 G53V probably benign Het
Gm10212 A G 19: 11,569,560 noncoding transcript Het
Gm11168 T G 9: 3,005,124 F201C probably damaging Het
Gm14412 A C 2: 177,315,686 S139A probably benign Het
Gm21411 C T 4: 146,892,610 S69N possibly damaging Het
Gm21671 A C 5: 25,954,224 W41G probably benign Het
Gm21738 A G 14: 19,418,885 C16R probably benign Het
Gm21967 T A 13: 119,609,535 probably benign Het
Gm4952 A T 19: 12,623,623 D69V probably damaging Het
Gm5591 T G 7: 38,520,414 K345T probably benign Het
Gm7647 T C 5: 94,962,980 S7P probably benign Het
Gm9733 C T 3: 15,332,145 probably null Het
Gm9758 G A 5: 14,913,508 probably benign Het
Gtse1 C A 15: 85,868,817 Q378K possibly damaging Het
Haus3 T C 5: 34,166,346 K307E probably benign Het
Hjurp A G 1: 88,270,269 L96S probably benign Het
Ifi205 T A 1: 174,027,333 probably benign Het
Ighg1 A G 12: 113,329,184 V255A unknown Het
Ighv14-4 T A 12: 114,176,632 M49L probably benign Het
Jak1 A C 4: 101,171,357 L508R probably damaging Het
Kif18a A G 2: 109,334,422 Q821R probably benign Het
Kif21b T C 1: 136,152,342 S539P possibly damaging Het
Klhdc2 T C 12: 69,307,213 V266A probably benign Het
Lonp2 G T 8: 86,641,533 probably benign Het
Mpdz C T 4: 81,303,584 probably benign Het
Mroh2a G A 1: 88,230,746 E172K probably damaging Het
Mroh2a G T 1: 88,244,970 M823I probably benign Het
Mroh2a G A 1: 88,234,120 G309D possibly damaging Het
Mtif3 C A 5: 146,959,104 G58* probably null Het
Muc4 G T 16: 32,753,848 K1241N probably benign Het
Muc4 G A 16: 32,753,849 G1242R probably benign Het
Muc4 C T 16: 32,755,805 probably benign Het
Muc4 C T 16: 32,753,823 P1233L probably benign Het
Muc4 C A 16: 32,753,955 T1277K possibly damaging Het
Muc4 A G 16: 32,754,071 R1316G probably benign Het
Muc4 T G 16: 32,753,863 N1246K probably benign Het
Muc4 A T 16: 32,753,886 E1254V probably benign Het
Muc4 C T 16: 32,752,569 P816S probably benign Het
Muc6 C T 7: 141,638,890 A1957T possibly damaging Het
Naca T A 10: 128,043,800 probably benign Het
Nars2 A T 7: 97,002,790 probably benign Het
Odf3l1 T C 9: 56,849,057 E225G probably benign Het
Olfr1445 G T 19: 12,883,901 V7L probably benign Het
Olfr342 A C 2: 36,527,993 I194L probably benign Het
Olfr549 G T 7: 102,554,891 L202F probably damaging Het
Olfr812 T C 10: 129,842,473 T190A probably damaging Het
Pcdh7 G A 5: 57,720,464 E454K possibly damaging Het
Pip5kl1 C A 2: 32,583,347 A332D probably benign Het
Pisd A T 5: 32,739,358 S280T probably benign Het
Pramel5 A G 4: 144,273,979 L9P probably damaging Het
Prkd3 G T 17: 78,954,523 N787K probably benign Het
Prkdc A T 16: 15,702,115 H1139L probably benign Het
R3hdm1 A G 1: 128,162,196 probably benign Het
Rbfox2 T C 15: 77,102,936 N206D probably damaging Het
Rlf T C 4: 121,148,339 E1258G possibly damaging Het
Rpl8 T C 15: 76,905,042 probably benign Het
Senp5 A C 16: 31,990,274 V27G probably benign Het
Serpina1b T A 12: 103,728,266 K406N probably damaging Het
Sfi1 G A 11: 3,134,337 A975V probably benign Het
Sfi1 T C 11: 3,143,689 probably benign Het
Sfi1 C T 11: 3,135,671 A853T probably damaging Het
Shc1 T C 3: 89,424,229 S154P probably damaging Het
Skint5 A G 4: 113,542,873 probably null Het
Slc17a8 T C 10: 89,576,530 D531G probably benign Het
Slc4a10 A C 2: 62,286,940 T718P probably damaging Het
Slc7a11 C T 3: 50,379,069 R411Q probably damaging Het
Slitrk3 A G 3: 73,050,081 F453L probably damaging Het
Slk A C 19: 47,580,252 Q20P probably damaging Het
Smg5 T C 3: 88,343,038 probably null Het
Sp110 G A 1: 85,586,281 R252C possibly damaging Het
Sp140 C T 1: 85,626,165 R242C possibly damaging Het
Sp140 G A 1: 85,626,133 R231K probably benign Het
Stim1 T A 7: 102,426,747 H395Q probably damaging Het
Sult2a1 T C 7: 13,804,036 I187M probably benign Het
Thap1 G A 8: 26,162,731 D189N probably benign Het
Thap1 C T 8: 26,160,882 P37L possibly damaging Het
Thrap3 C T 4: 126,165,395 probably benign Het
Tmem132d C T 5: 127,784,832 V742I possibly damaging Het
Tmprss9 A G 10: 80,892,292 D572G possibly damaging Het
Tmtc1 T G 6: 148,443,944 T86P probably benign Het
Trip12 A T 1: 84,751,884 N1026K probably damaging Het
Ttll5 T A 12: 85,876,589 V280E probably damaging Het
Ubn2 T A 6: 38,482,605 D592E possibly damaging Het
Ubr1 T G 2: 120,930,872 H608P probably damaging Het
Ugt1a6b A T 1: 88,215,178 probably null Het
Vmn1r77 C A 7: 12,041,768 S89Y probably benign Het
Vmn1r77 A C 7: 12,041,476 I60L probably benign Het
Vmn2r114 G A 17: 23,290,965 A847V probably benign Het
Vmn2r114 A T 17: 23,291,238 L756Q probably damaging Het
Vmn2r114 G T 17: 23,290,983 S841Y probably benign Het
Vmn2r115 C T 17: 23,346,264 S375F probably benign Het
Vmn2r115 G A 17: 23,359,779 G742D probably damaging Het
Vmn2r115 T A 17: 23,359,824 L757Q probably damaging Het
Vmn2r115 G T 17: 23,348,034 G507* probably null Het
Vmn2r115 G A 17: 23,346,278 E380K probably benign Het
Vmn2r115 A G 17: 23,356,960 M511V probably benign Het
Vmn2r115 C T 17: 23,346,371 Q411* probably null Het
Vmn2r115 A G 17: 23,346,372 Q411R probably benign Het
Vmn2r115 C T 17: 23,359,397 P615S probably damaging Het
Vmn2r115 A G 17: 23,346,161 N341D probably benign Het
Vmn2r115 C T 17: 23,346,176 P346S probably benign Het
Vmn2r115 A T 17: 23,346,206 M356L possibly damaging Het
Vmn2r115 G T 17: 23,359,349 A599S probably benign Het
Vmn2r115 A C 17: 23,346,339 N400T probably damaging Het
Vmn2r116 C T 17: 23,397,727 P540S probably damaging Het
Vmn2r116 C T 17: 23,387,236 S374F probably benign Het
Vmn2r117 C T 17: 23,477,840 A198T probably damaging Het
Vmn2r117 T G 17: 23,475,429 K481N probably damaging Het
Vmn2r117 A C 17: 23,479,546 S18A probably benign Het
Vmn2r121 T G X: 124,127,802 K840N probably benign Het
Vmn2r121 T A X: 124,127,783 N847Y possibly damaging Het
Vmn2r121 C T X: 124,133,716 E73K probably benign Het
Vmn2r125 A C 4: 156,350,900 Q191P probably benign Het
Vmn2r125 C A 4: 156,350,899 Q191K probably benign Het
Vmn2r125 T C 4: 156,350,966 V213A probably benign Het
Vmn2r125 T C 4: 156,351,383 M352T probably benign Het
Vmn2r125 C T 4: 156,351,038 T237I probably benign Het
Vmn2r125 A T 4: 156,351,037 T237S probably benign Het
Vmn2r125 T A 4: 156,351,226 L300M probably benign Het
Vmn2r88 A G 14: 51,413,125 I98M probably benign Het
Vmn2r88 T C 14: 51,413,256 I142T probably benign Het
Vmn2r88 C T 14: 51,416,802 P539L possibly damaging Het
Vmn2r88 T C 14: 51,413,060 F77L probably benign Het
Vmn2r89 A C 14: 51,455,971 Q259H probably benign Het
Vmn2r89 T G 14: 51,457,493 L477V probably benign Het
Vmn2r-ps159 T C 4: 156,334,263 noncoding transcript Het
Vmn2r-ps159 C A 4: 156,338,435 noncoding transcript Het
Vmn2r-ps159 G T 4: 156,338,460 noncoding transcript Het
Vmn2r-ps159 T G 4: 156,334,562 noncoding transcript Het
Vmn2r-ps159 T G 4: 156,338,484 noncoding transcript Het
Vmn2r-ps159 G T 4: 156,334,397 noncoding transcript Het
Vmn2r-ps159 A T 4: 156,338,146 noncoding transcript Het
Zfp180 G A 7: 24,104,416 C85Y possibly damaging Het
Zfp180 C T 7: 24,104,830 R225C probably benign Het
Zfp180 G A 7: 24,104,995 V280M possibly damaging Het
Zfp982 G A 4: 147,512,369 C61Y probably benign Het
Other mutations in Speer4b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00869:Speer4b APN 5 27498718 missense probably damaging 0.99
IGL01343:Speer4b APN 5 27497883 missense probably benign
R1586:Speer4b UTSW 5 27497013 missense probably damaging 0.98
R1772:Speer4b UTSW 5 27500238 splice site probably benign
R4239:Speer4b UTSW 5 27501313 missense probably benign 0.17
R4585:Speer4b UTSW 5 27498038 missense probably null 1.00
R4586:Speer4b UTSW 5 27498038 missense probably null 1.00
R4659:Speer4b UTSW 5 27497895 missense probably benign
R4915:Speer4b UTSW 5 27500136 missense probably benign 0.00
R4927:Speer4b UTSW 5 27501265 missense probably damaging 0.97
R5619:Speer4b UTSW 5 27498817 missense possibly damaging 0.84
R5860:Speer4b UTSW 5 27500228 missense possibly damaging 0.60
R6990:Speer4b UTSW 5 27497078 nonsense probably null
R7045:Speer4b UTSW 5 27500125 missense probably damaging 1.00
R7146:Speer4b UTSW 5 27498710 missense probably benign 0.00
R7170:Speer4b UTSW 5 27498823 missense possibly damaging 0.70
R7268:Speer4b UTSW 5 27501248 missense probably damaging 0.98
Z1088:Speer4b UTSW 5 27497941 missense probably benign 0.02
Posted On2015-04-16