Incidental Mutation 'R5706:Spopfm1'
ID 451961
Institutional Source Beutler Lab
Gene Symbol Spopfm1
Ensembl Gene ENSMUSG00000089696
Gene Name speckle-type BTB/POZ protein family member 1
Synonyms Gm4778
MMRRC Submission 043331-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.870) question?
Stock # R5706 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 94171343-94174091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 94173959 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 322 (H322Q)
Ref Sequence ENSEMBL: ENSMUSP00000096477 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098878] [ENSMUST00000159517]
AlphaFold L7N229
Predicted Effect possibly damaging
Transcript: ENSMUST00000098878
AA Change: H322Q

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000096477
Gene: ENSMUSG00000089696
AA Change: H322Q

DomainStartEndE-ValueType
MATH 25 134 6.01e-8 SMART
BTB 192 291 7.66e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159517
AA Change: H318Q

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000123868
Gene: ENSMUSG00000089696
AA Change: H318Q

DomainStartEndE-ValueType
MATH 21 130 6.01e-8 SMART
BTB 188 287 7.66e-26 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T A 3: 121,847,910 (GRCm39) M77K probably benign Het
Amy1 A G 3: 113,349,769 (GRCm39) V467A probably damaging Het
Atf4 T C 15: 80,140,531 (GRCm39) V11A possibly damaging Het
B4galt1 T C 4: 40,807,268 (GRCm39) N373D probably damaging Het
Bpifa3 A G 2: 153,977,498 (GRCm39) K112R probably damaging Het
Chd2 T A 7: 73,141,105 (GRCm39) Y596F possibly damaging Het
Clspn T C 4: 126,472,211 (GRCm39) S962P probably damaging Het
Cyp2c68 T C 19: 39,722,762 (GRCm39) D262G possibly damaging Het
Dcaf11 T C 14: 55,803,152 (GRCm39) I282T probably damaging Het
Dmxl1 T C 18: 50,090,462 (GRCm39) probably null Het
Dnah11 T G 12: 117,987,670 (GRCm39) K2411Q probably damaging Het
Elf3 A G 1: 135,184,220 (GRCm39) V196A probably benign Het
Fhad1 T G 4: 141,681,427 (GRCm39) T538P probably damaging Het
Fkbp10 A G 11: 100,311,849 (GRCm39) D174G probably damaging Het
Gas6 A G 8: 13,527,098 (GRCm39) S217P probably damaging Het
Heatr5b C T 17: 79,074,304 (GRCm39) probably null Het
Iqgap3 A G 3: 88,023,215 (GRCm39) E502G probably benign Het
Klc1 T C 12: 111,762,061 (GRCm39) V577A possibly damaging Het
Lck T C 4: 129,445,431 (GRCm39) probably null Het
Mc3r C A 2: 172,091,610 (GRCm39) Y277* probably null Het
Mlxipl T C 5: 135,162,458 (GRCm39) V640A probably benign Het
Mrc2 A T 11: 105,223,169 (GRCm39) N471Y probably damaging Het
Ncan T A 8: 70,554,667 (GRCm39) H1050L probably damaging Het
Nrl C A 14: 55,759,889 (GRCm39) V13F probably damaging Het
Obscn T A 11: 58,967,082 (GRCm39) Y546F probably damaging Het
Or52u1 T G 7: 104,237,097 (GRCm39) S46A probably benign Het
Or6c209 A G 10: 129,483,960 (GRCm39) probably null Het
Or6d14 A G 6: 116,534,074 (GRCm39) I229M probably damaging Het
Pde3b G A 7: 114,120,927 (GRCm39) G684D probably damaging Het
Prkaa1 C T 15: 5,203,823 (GRCm39) T244I probably benign Het
Scfd2 A T 5: 74,367,059 (GRCm39) probably null Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Smg1 A T 7: 117,744,813 (GRCm39) V3113D possibly damaging Het
Sorbs1 T C 19: 40,365,325 (GRCm39) T153A probably benign Het
Spag16 A G 1: 69,909,448 (GRCm39) T182A probably benign Het
Svs5 T C 2: 164,079,589 (GRCm39) K106R possibly damaging Het
Tenm1 A G X: 42,163,572 (GRCm39) V107A possibly damaging Het
Topaz1 A T 9: 122,628,550 (GRCm39) I1546F possibly damaging Het
Tubgcp2 C A 7: 139,612,138 (GRCm39) E78* probably null Het
Vars1 A G 17: 35,224,457 (GRCm39) probably null Het
Vmn2r109 A T 17: 20,774,567 (GRCm39) W263R probably benign Het
Other mutations in Spopfm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01767:Spopfm1 APN 3 94,173,791 (GRCm39) missense probably benign 0.00
IGL02032:Spopfm1 APN 3 94,173,640 (GRCm39) missense probably damaging 1.00
IGL02694:Spopfm1 APN 3 94,173,459 (GRCm39) missense probably benign
IGL03171:Spopfm1 APN 3 94,173,762 (GRCm39) missense probably benign 0.00
R0195:Spopfm1 UTSW 3 94,173,229 (GRCm39) missense possibly damaging 0.79
R0739:Spopfm1 UTSW 3 94,173,102 (GRCm39) missense probably benign 0.17
R1064:Spopfm1 UTSW 3 94,173,102 (GRCm39) missense probably benign 0.17
R1149:Spopfm1 UTSW 3 94,173,102 (GRCm39) missense probably benign 0.17
R1149:Spopfm1 UTSW 3 94,173,102 (GRCm39) missense probably benign 0.17
R1150:Spopfm1 UTSW 3 94,173,102 (GRCm39) missense probably benign 0.17
R1152:Spopfm1 UTSW 3 94,173,102 (GRCm39) missense probably benign 0.17
R1284:Spopfm1 UTSW 3 94,173,102 (GRCm39) missense probably benign 0.17
R1286:Spopfm1 UTSW 3 94,173,102 (GRCm39) missense probably benign 0.17
R1287:Spopfm1 UTSW 3 94,173,102 (GRCm39) missense probably benign 0.17
R1349:Spopfm1 UTSW 3 94,173,435 (GRCm39) missense possibly damaging 0.94
R1358:Spopfm1 UTSW 3 94,173,102 (GRCm39) missense probably benign 0.17
R1372:Spopfm1 UTSW 3 94,173,435 (GRCm39) missense possibly damaging 0.94
R1383:Spopfm1 UTSW 3 94,173,102 (GRCm39) missense probably benign 0.17
R1399:Spopfm1 UTSW 3 94,173,102 (GRCm39) missense probably benign 0.17
R1756:Spopfm1 UTSW 3 94,173,525 (GRCm39) missense probably benign
R1996:Spopfm1 UTSW 3 94,173,018 (GRCm39) missense probably benign 0.00
R2679:Spopfm1 UTSW 3 94,173,217 (GRCm39) missense probably damaging 1.00
R2878:Spopfm1 UTSW 3 94,173,787 (GRCm39) missense possibly damaging 0.69
R5108:Spopfm1 UTSW 3 94,173,142 (GRCm39) missense probably damaging 1.00
R6251:Spopfm1 UTSW 3 94,173,208 (GRCm39) missense probably damaging 1.00
R6928:Spopfm1 UTSW 3 94,173,855 (GRCm39) missense probably benign 0.31
R7091:Spopfm1 UTSW 3 94,173,945 (GRCm39) missense probably damaging 1.00
R7264:Spopfm1 UTSW 3 94,173,045 (GRCm39) missense possibly damaging 0.86
R7503:Spopfm1 UTSW 3 94,173,780 (GRCm39) missense probably benign 0.29
R7595:Spopfm1 UTSW 3 94,173,985 (GRCm39) missense probably benign 0.00
R7867:Spopfm1 UTSW 3 94,173,154 (GRCm39) missense probably benign 0.25
R8338:Spopfm1 UTSW 3 94,173,285 (GRCm39) missense possibly damaging 0.83
R8525:Spopfm1 UTSW 3 94,173,862 (GRCm39) missense probably benign 0.33
R9069:Spopfm1 UTSW 3 94,173,153 (GRCm39) missense possibly damaging 0.93
R9239:Spopfm1 UTSW 3 94,173,871 (GRCm39) missense probably benign 0.31
Predicted Primers PCR Primer
(F):5'- GATGGGCTTCATTTACACTGGG -3'
(R):5'- GTTGGAAGACAGATGTTGGTCATAG -3'

Sequencing Primer
(F):5'- GCTTCATTTACACTGGGAAGGCAC -3'
(R):5'- CAGATGTTGGTCATAGATTTCCATCC -3'
Posted On 2017-01-03