Incidental Mutation 'R9016:Spen'
ID 685984
Institutional Source Beutler Lab
Gene Symbol Spen
Ensembl Gene ENSMUSG00000040761
Gene Name spen family transcription repressor
Synonyms Mint
MMRRC Submission 068846-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9016 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 141195201-141265908 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 141200938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 2563 (C2563Y)
Ref Sequence ENSEMBL: ENSMUSP00000101412 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078886] [ENSMUST00000105786]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000078886
AA Change: C2540Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077925
Gene: ENSMUSG00000040761
AA Change: C2540Y

DomainStartEndE-ValueType
RRM 7 77 7.77e-12 SMART
low complexity region 109 121 N/A INTRINSIC
low complexity region 235 257 N/A INTRINSIC
low complexity region 262 311 N/A INTRINSIC
RRM 338 411 8.6e-5 SMART
RRM 441 511 1.56e-16 SMART
RRM 520 587 1.84e-13 SMART
low complexity region 617 632 N/A INTRINSIC
low complexity region 669 691 N/A INTRINSIC
low complexity region 695 720 N/A INTRINSIC
low complexity region 749 773 N/A INTRINSIC
coiled coil region 800 825 N/A INTRINSIC
low complexity region 830 841 N/A INTRINSIC
internal_repeat_2 844 954 6.27e-5 PROSPERO
coiled coil region 1494 1522 N/A INTRINSIC
low complexity region 1587 1627 N/A INTRINSIC
low complexity region 1635 1641 N/A INTRINSIC
low complexity region 1642 1671 N/A INTRINSIC
low complexity region 1747 1758 N/A INTRINSIC
low complexity region 1810 1823 N/A INTRINSIC
low complexity region 1888 1903 N/A INTRINSIC
low complexity region 1940 1955 N/A INTRINSIC
low complexity region 2003 2012 N/A INTRINSIC
internal_repeat_2 2015 2115 6.27e-5 PROSPERO
low complexity region 2127 2147 N/A INTRINSIC
low complexity region 2169 2191 N/A INTRINSIC
low complexity region 2207 2219 N/A INTRINSIC
low complexity region 2304 2323 N/A INTRINSIC
low complexity region 2332 2371 N/A INTRINSIC
low complexity region 2396 2413 N/A INTRINSIC
low complexity region 2518 2533 N/A INTRINSIC
low complexity region 2545 2555 N/A INTRINSIC
low complexity region 2696 2722 N/A INTRINSIC
low complexity region 2931 2942 N/A INTRINSIC
low complexity region 2994 3006 N/A INTRINSIC
low complexity region 3192 3212 N/A INTRINSIC
low complexity region 3299 3337 N/A INTRINSIC
Pfam:SPOC 3465 3586 2.7e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000105786
AA Change: C2563Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101412
Gene: ENSMUSG00000040761
AA Change: C2563Y

DomainStartEndE-ValueType
RRM 7 77 7.77e-12 SMART
low complexity region 109 121 N/A INTRINSIC
low complexity region 235 257 N/A INTRINSIC
low complexity region 262 311 N/A INTRINSIC
RRM 338 411 8.6e-5 SMART
RRM 441 511 1.56e-16 SMART
RRM 520 587 1.84e-13 SMART
low complexity region 692 714 N/A INTRINSIC
low complexity region 718 743 N/A INTRINSIC
low complexity region 772 796 N/A INTRINSIC
coiled coil region 823 848 N/A INTRINSIC
low complexity region 853 864 N/A INTRINSIC
internal_repeat_2 867 977 8.58e-5 PROSPERO
coiled coil region 1517 1545 N/A INTRINSIC
low complexity region 1610 1650 N/A INTRINSIC
low complexity region 1658 1664 N/A INTRINSIC
low complexity region 1665 1694 N/A INTRINSIC
low complexity region 1770 1781 N/A INTRINSIC
low complexity region 1833 1846 N/A INTRINSIC
low complexity region 1911 1926 N/A INTRINSIC
low complexity region 1963 1978 N/A INTRINSIC
low complexity region 2026 2035 N/A INTRINSIC
internal_repeat_2 2038 2138 8.58e-5 PROSPERO
low complexity region 2150 2170 N/A INTRINSIC
low complexity region 2192 2214 N/A INTRINSIC
low complexity region 2230 2242 N/A INTRINSIC
low complexity region 2327 2346 N/A INTRINSIC
low complexity region 2355 2394 N/A INTRINSIC
low complexity region 2419 2436 N/A INTRINSIC
low complexity region 2541 2556 N/A INTRINSIC
low complexity region 2568 2578 N/A INTRINSIC
low complexity region 2719 2745 N/A INTRINSIC
low complexity region 2954 2965 N/A INTRINSIC
low complexity region 3017 3029 N/A INTRINSIC
low complexity region 3215 3235 N/A INTRINSIC
low complexity region 3322 3360 N/A INTRINSIC
Pfam:SPOC 3488 3609 2.7e-29 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a hormone inducible transcriptional repressor. Repression of transcription by this gene product can occur through interactions with other repressors, by the recruitment of proteins involved in histone deacetylation, or through sequestration of transcriptional activators. The product of this gene contains a carboxy-terminal domain that permits binding to other corepressor proteins. This domain also permits interaction with members of the NuRD complex, a nucleosome remodeling protein complex that contains deacetylase activity. In addition, this repressor contains several RNA recognition motifs that confer binding to a steroid receptor RNA coactivator; this binding can modulate the activity of both liganded and nonliganded steroid receptors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice die during late gestation exhibiting morphological abnormalities of the heart, pancreas, and liver. Inactivation of this gene also affects the differentiation of B cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 C A 18: 74,932,154 (GRCm39) S264R probably damaging Het
Agap1 T C 1: 89,694,188 (GRCm39) probably null Het
Amer2 G C 14: 60,617,376 (GRCm39) D524H probably damaging Het
Ank1 G A 8: 23,606,264 (GRCm39) G1219S probably null Het
Apob C T 12: 8,035,408 (GRCm39) silent Het
Atg2a G C 19: 6,300,111 (GRCm39) A640P probably damaging Het
AW209491 G A 13: 14,812,193 (GRCm39) V349M probably damaging Het
Bmpr2 C T 1: 59,854,460 (GRCm39) T103I probably damaging Het
Btaf1 A C 19: 36,971,705 (GRCm39) E1231D probably benign Het
Btbd7 T C 12: 102,751,417 (GRCm39) R1116G probably damaging Het
Catsperg1 A T 7: 28,891,162 (GRCm39) M627K probably benign Het
Cdk7 G A 13: 100,854,126 (GRCm39) T121I probably benign Het
Csmd3 T A 15: 47,522,438 (GRCm39) T1833S Het
Dapk3 A T 10: 81,028,266 (GRCm39) R279W probably damaging Het
Dennd2b A C 7: 109,139,642 (GRCm39) D645E possibly damaging Het
Dnah9 T C 11: 65,998,856 (GRCm39) E1064G probably damaging Het
Dner T C 1: 84,673,226 (GRCm39) E75G probably benign Het
Dnmt1 T C 9: 20,847,855 (GRCm39) E229G possibly damaging Het
Fam171a1 G A 2: 3,227,434 (GRCm39) A856T probably benign Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fen1 A T 19: 10,178,306 (GRCm39) V46D probably damaging Het
Ffar3 T C 7: 30,554,454 (GRCm39) R289G probably damaging Het
Fhod3 G A 18: 25,243,136 (GRCm39) E1165K possibly damaging Het
Fras1 A T 5: 96,783,923 (GRCm39) H809L probably damaging Het
Gbp7 A T 3: 142,249,870 (GRCm39) E447V probably benign Het
Gja8 T C 3: 96,827,521 (GRCm39) D47G probably damaging Het
Gm5795 A G 14: 14,883,574 (GRCm39) K144E probably benign Het
Gm7298 A C 6: 121,758,800 (GRCm39) Q1139H possibly damaging Het
Gpa33 A T 1: 165,992,730 (GRCm39) Y281F probably damaging Het
H2-M10.5 G A 17: 37,084,226 (GRCm39) E63K possibly damaging Het
Hgf T C 5: 16,823,956 (GRCm39) W718R probably damaging Het
Ifna5 C G 4: 88,754,046 (GRCm39) D95E probably benign Het
Ifnar2 T C 16: 91,201,073 (GRCm39) L438P possibly damaging Het
Ints1 T C 5: 139,744,326 (GRCm39) T1479A probably benign Het
Kif1a C T 1: 92,953,395 (GRCm39) R1263H probably damaging Het
Ltbp2 T C 12: 84,856,467 (GRCm39) T686A probably benign Het
Med12l A T 3: 59,163,294 (GRCm39) E1307V probably damaging Het
Mtcl1 T A 17: 66,651,062 (GRCm39) T1468S probably damaging Het
Myo9a C T 9: 59,775,427 (GRCm39) Q1013* probably null Het
Nckap5 T C 1: 126,623,491 (GRCm39) M1V probably null Het
Nos3 G T 5: 24,588,639 (GRCm39) V1122F probably damaging Het
Nxt2 C T X: 141,020,747 (GRCm39) A118V possibly damaging Het
Odad1 T G 7: 45,585,988 (GRCm39) C128W probably damaging Het
Or1x6 G A 11: 50,938,938 (GRCm39) M1I probably null Het
Or52n4 A T 7: 104,293,828 (GRCm39) C250* probably null Het
Oscar A G 7: 3,619,072 (GRCm39) V2A probably benign Het
P2rx6 T A 16: 17,385,304 (GRCm39) H132Q possibly damaging Het
Pakap T C 4: 57,637,857 (GRCm39) C12R unknown Het
Pde6b T A 5: 108,536,592 (GRCm39) M96K possibly damaging Het
Polq T A 16: 36,843,159 (GRCm39) L231Q probably damaging Het
Pramel23 T C 4: 143,423,899 (GRCm39) I297V possibly damaging Het
Prrc2a G A 17: 35,378,844 (GRCm39) T399I unknown Het
Rapsn A G 2: 90,867,172 (GRCm39) D158G probably damaging Het
Rcor1 T A 12: 111,047,933 (GRCm39) probably benign Het
Sema4d G T 13: 51,867,794 (GRCm39) P186T probably damaging Het
Skic2 A C 17: 35,063,640 (GRCm39) L601R probably damaging Het
Slc4a7 G A 14: 14,773,241 (GRCm38) R737Q probably damaging Het
Sorbs2 T G 8: 46,248,774 (GRCm39) V675G probably benign Het
Sox15 T G 11: 69,546,529 (GRCm39) Y111D probably damaging Het
Taf8 A T 17: 47,807,527 (GRCm39) D153E probably damaging Het
Tet3 G A 6: 83,345,253 (GRCm39) A1728V probably damaging Het
Tmem232 A T 17: 65,737,778 (GRCm39) D427E probably benign Het
Tmem53 T C 4: 117,125,451 (GRCm39) I188T probably benign Het
Tnc T G 4: 63,935,331 (GRCm39) D535A probably benign Het
Tnfrsf11a G A 1: 105,754,854 (GRCm39) A309T possibly damaging Het
Tnik G A 3: 28,692,544 (GRCm39) G867R probably damaging Het
Uba3 A T 6: 97,162,694 (GRCm39) C367* probably null Het
Vmn1r235 G T 17: 21,481,969 (GRCm39) S98I possibly damaging Het
Vmn2r15 T C 5: 109,442,109 (GRCm39) E108G probably benign Het
Xrra1 T A 7: 99,525,462 (GRCm39) I127N probably benign Het
Zc3h18 G A 8: 123,129,963 (GRCm39) R447Q unknown Het
Zcwpw1 C A 5: 137,798,340 (GRCm39) P179Q probably damaging Het
Zfp526 C T 7: 24,925,264 (GRCm39) H508Y probably damaging Het
Zfp583 T C 7: 6,320,404 (GRCm39) K203E probably benign Het
Zfp979 A G 4: 147,697,504 (GRCm39) C402R possibly damaging Het
Zxdc A G 6: 90,359,254 (GRCm39) T629A probably damaging Het
Other mutations in Spen
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01133:Spen APN 4 141,217,212 (GRCm39) missense unknown
IGL01357:Spen APN 4 141,244,424 (GRCm39) missense unknown
IGL02184:Spen APN 4 141,214,917 (GRCm39) missense unknown
IGL02226:Spen APN 4 141,205,457 (GRCm39) missense unknown
IGL02321:Spen APN 4 141,244,441 (GRCm39) missense unknown
IGL02350:Spen APN 4 141,204,890 (GRCm39) missense unknown
IGL02357:Spen APN 4 141,204,890 (GRCm39) missense unknown
IGL02627:Spen APN 4 141,200,326 (GRCm39) missense probably damaging 0.99
IGL02683:Spen APN 4 141,198,956 (GRCm39) missense probably benign 0.06
IGL02945:Spen APN 4 141,221,624 (GRCm39) missense unknown
IGL02950:Spen APN 4 141,196,819 (GRCm39) missense probably damaging 1.00
IGL03008:Spen APN 4 141,203,448 (GRCm39) missense possibly damaging 0.70
IGL03019:Spen APN 4 141,206,227 (GRCm39) missense unknown
IGL03038:Spen APN 4 141,265,550 (GRCm39) missense unknown
IGL03334:Spen APN 4 141,197,280 (GRCm39) missense probably damaging 1.00
filtered UTSW 4 141,204,683 (GRCm39) missense unknown
mentholated UTSW 4 141,196,711 (GRCm39) missense possibly damaging 0.78
R0105:Spen UTSW 4 141,197,121 (GRCm39) splice site probably benign
R0268:Spen UTSW 4 141,204,868 (GRCm39) missense unknown
R0359:Spen UTSW 4 141,244,181 (GRCm39) missense unknown
R0394:Spen UTSW 4 141,201,514 (GRCm39) missense probably benign 0.03
R0423:Spen UTSW 4 141,206,647 (GRCm39) missense unknown
R0433:Spen UTSW 4 141,211,069 (GRCm39) missense unknown
R0462:Spen UTSW 4 141,200,962 (GRCm39) missense probably damaging 1.00
R0687:Spen UTSW 4 141,215,339 (GRCm39) missense unknown
R0699:Spen UTSW 4 141,201,702 (GRCm39) missense possibly damaging 0.72
R0865:Spen UTSW 4 141,199,181 (GRCm39) missense probably benign 0.11
R0918:Spen UTSW 4 141,212,875 (GRCm39) missense unknown
R1034:Spen UTSW 4 141,203,063 (GRCm39) missense probably benign 0.33
R1341:Spen UTSW 4 141,196,711 (GRCm39) missense possibly damaging 0.78
R1401:Spen UTSW 4 141,199,132 (GRCm39) missense probably damaging 0.98
R1509:Spen UTSW 4 141,202,946 (GRCm39) missense probably benign 0.00
R1509:Spen UTSW 4 141,203,011 (GRCm39) missense possibly damaging 0.53
R1561:Spen UTSW 4 141,199,694 (GRCm39) nonsense probably null
R1589:Spen UTSW 4 141,215,335 (GRCm39) missense unknown
R1640:Spen UTSW 4 141,196,254 (GRCm39) missense probably damaging 0.98
R1758:Spen UTSW 4 141,203,686 (GRCm39) missense unknown
R1764:Spen UTSW 4 141,200,261 (GRCm39) missense probably damaging 1.00
R1824:Spen UTSW 4 141,200,096 (GRCm39) missense probably damaging 1.00
R1899:Spen UTSW 4 141,197,654 (GRCm39) missense probably benign 0.17
R1916:Spen UTSW 4 141,199,909 (GRCm39) missense probably damaging 1.00
R2011:Spen UTSW 4 141,200,640 (GRCm39) missense probably damaging 1.00
R2295:Spen UTSW 4 141,204,584 (GRCm39) missense unknown
R2379:Spen UTSW 4 141,244,238 (GRCm39) missense unknown
R2404:Spen UTSW 4 141,205,216 (GRCm39) missense unknown
R3719:Spen UTSW 4 141,244,494 (GRCm39) missense unknown
R3889:Spen UTSW 4 141,205,192 (GRCm39) missense unknown
R3945:Spen UTSW 4 141,204,664 (GRCm39) missense unknown
R4227:Spen UTSW 4 141,249,458 (GRCm39) missense unknown
R4326:Spen UTSW 4 141,204,683 (GRCm39) missense unknown
R4382:Spen UTSW 4 141,200,450 (GRCm39) missense possibly damaging 0.88
R4542:Spen UTSW 4 141,204,097 (GRCm39) missense unknown
R4757:Spen UTSW 4 141,200,390 (GRCm39) nonsense probably null
R4771:Spen UTSW 4 141,199,907 (GRCm39) missense probably benign 0.14
R5072:Spen UTSW 4 141,249,613 (GRCm39) missense unknown
R5121:Spen UTSW 4 141,203,410 (GRCm39) missense probably benign 0.00
R5176:Spen UTSW 4 141,203,587 (GRCm39) missense unknown
R5290:Spen UTSW 4 141,201,127 (GRCm39) missense probably damaging 1.00
R5291:Spen UTSW 4 141,215,390 (GRCm39) missense unknown
R5293:Spen UTSW 4 141,199,717 (GRCm39) missense possibly damaging 0.89
R5347:Spen UTSW 4 141,198,796 (GRCm39) missense probably benign 0.26
R5511:Spen UTSW 4 141,244,149 (GRCm39) missense unknown
R5511:Spen UTSW 4 141,202,375 (GRCm39) missense possibly damaging 0.86
R5772:Spen UTSW 4 141,205,495 (GRCm39) missense unknown
R5834:Spen UTSW 4 141,199,154 (GRCm39) missense possibly damaging 0.63
R5858:Spen UTSW 4 141,201,182 (GRCm39) missense probably benign 0.05
R6214:Spen UTSW 4 141,206,423 (GRCm39) missense unknown
R6232:Spen UTSW 4 141,244,333 (GRCm39) missense unknown
R6345:Spen UTSW 4 141,198,944 (GRCm39) missense possibly damaging 0.86
R6419:Spen UTSW 4 141,203,621 (GRCm39) missense unknown
R6455:Spen UTSW 4 141,202,820 (GRCm39) missense probably damaging 0.97
R6979:Spen UTSW 4 141,205,374 (GRCm39) missense unknown
R6994:Spen UTSW 4 141,220,770 (GRCm39) missense unknown
R7018:Spen UTSW 4 141,220,755 (GRCm39) missense unknown
R7040:Spen UTSW 4 141,221,693 (GRCm39) missense unknown
R7127:Spen UTSW 4 141,203,419 (GRCm39) missense possibly damaging 0.53
R7218:Spen UTSW 4 141,199,961 (GRCm39) missense possibly damaging 0.54
R7234:Spen UTSW 4 141,206,446 (GRCm39) missense unknown
R7316:Spen UTSW 4 141,204,365 (GRCm39) missense unknown
R7350:Spen UTSW 4 141,206,696 (GRCm39) missense unknown
R7356:Spen UTSW 4 141,199,235 (GRCm39) nonsense probably null
R7400:Spen UTSW 4 141,201,052 (GRCm39) missense probably damaging 1.00
R7470:Spen UTSW 4 141,206,605 (GRCm39) missense unknown
R7698:Spen UTSW 4 141,200,156 (GRCm39) missense probably damaging 1.00
R7858:Spen UTSW 4 141,215,442 (GRCm39) splice site probably null
R8033:Spen UTSW 4 141,199,057 (GRCm39) missense probably benign 0.03
R8064:Spen UTSW 4 141,203,011 (GRCm39) missense possibly damaging 0.53
R8159:Spen UTSW 4 141,202,314 (GRCm39) missense possibly damaging 0.53
R8187:Spen UTSW 4 141,200,216 (GRCm39) missense possibly damaging 0.93
R8463:Spen UTSW 4 141,249,590 (GRCm39) missense unknown
R8557:Spen UTSW 4 141,197,681 (GRCm39) missense probably benign 0.14
R8558:Spen UTSW 4 141,197,681 (GRCm39) missense probably benign 0.14
R8672:Spen UTSW 4 141,197,681 (GRCm39) missense probably benign 0.14
R8673:Spen UTSW 4 141,197,681 (GRCm39) missense probably benign 0.14
R8674:Spen UTSW 4 141,197,681 (GRCm39) missense probably benign 0.14
R8714:Spen UTSW 4 141,215,314 (GRCm39) missense unknown
R8735:Spen UTSW 4 141,197,129 (GRCm39) missense probably benign 0.32
R8762:Spen UTSW 4 141,200,261 (GRCm39) missense probably damaging 1.00
R8877:Spen UTSW 4 141,199,137 (GRCm39) nonsense probably null
R8878:Spen UTSW 4 141,204,520 (GRCm39) missense unknown
R8937:Spen UTSW 4 141,201,374 (GRCm39) missense probably damaging 1.00
R8939:Spen UTSW 4 141,202,969 (GRCm39) missense possibly damaging 0.72
R8968:Spen UTSW 4 141,197,701 (GRCm39) missense probably benign 0.02
R8971:Spen UTSW 4 141,201,889 (GRCm39) missense possibly damaging 0.53
R9072:Spen UTSW 4 141,203,702 (GRCm39) missense unknown
R9073:Spen UTSW 4 141,203,702 (GRCm39) missense unknown
R9120:Spen UTSW 4 141,200,233 (GRCm39) missense
R9136:Spen UTSW 4 141,249,623 (GRCm39) missense unknown
R9138:Spen UTSW 4 141,196,797 (GRCm39) missense probably damaging 1.00
R9150:Spen UTSW 4 141,244,468 (GRCm39) missense unknown
R9225:Spen UTSW 4 141,202,943 (GRCm39) missense possibly damaging 0.53
R9492:Spen UTSW 4 141,199,098 (GRCm39) missense probably benign 0.26
R9537:Spen UTSW 4 141,244,156 (GRCm39) small deletion probably benign
R9537:Spen UTSW 4 141,199,015 (GRCm39) missense probably benign 0.15
R9602:Spen UTSW 4 141,205,183 (GRCm39) missense unknown
R9609:Spen UTSW 4 141,215,419 (GRCm39) missense unknown
R9686:Spen UTSW 4 141,199,946 (GRCm39) missense probably benign 0.27
R9697:Spen UTSW 4 141,196,275 (GRCm39) missense probably damaging 1.00
R9713:Spen UTSW 4 141,244,331 (GRCm39) missense unknown
T0722:Spen UTSW 4 141,201,664 (GRCm39) missense probably benign 0.33
T0975:Spen UTSW 4 141,201,664 (GRCm39) missense probably benign 0.33
Z1088:Spen UTSW 4 141,205,287 (GRCm39) missense unknown
Z1088:Spen UTSW 4 141,205,288 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCCAGGTCAATGCTAACGGG -3'
(R):5'- CTAAGGTGACAGAGTGGATCAC -3'

Sequencing Primer
(F):5'- GGCATCCGGCTAATAACCG -3'
(R):5'- TCACAAGACAGGAAGAGCCTCG -3'
Posted On 2021-10-11