Incidental Mutation 'R4446:Ssx2ip'
ID 329885
Institutional Source Beutler Lab
Gene Symbol Ssx2ip
Ensembl Gene ENSMUSG00000036825
Gene Name SSX family member 2 interacting protein
Synonyms Adip
MMRRC Submission 041707-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4446 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 146110397-146145899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 146132186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 216 (V216I)
Ref Sequence ENSEMBL: ENSMUSP00000101759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039021] [ENSMUST00000106149] [ENSMUST00000106151] [ENSMUST00000106153]
AlphaFold Q8VC66
Predicted Effect probably benign
Transcript: ENSMUST00000039021
AA Change: V216I

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045663
Gene: ENSMUSG00000036825
AA Change: V216I

DomainStartEndE-ValueType
Pfam:ADIP 63 214 8.5e-51 PFAM
coiled coil region 266 291 N/A INTRINSIC
coiled coil region 374 411 N/A INTRINSIC
low complexity region 425 435 N/A INTRINSIC
Blast:LPD_N 439 480 3e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106149
AA Change: V216I

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101755
Gene: ENSMUSG00000036825
AA Change: V216I

DomainStartEndE-ValueType
Pfam:ADIP 63 214 8.5e-51 PFAM
coiled coil region 266 291 N/A INTRINSIC
coiled coil region 374 411 N/A INTRINSIC
low complexity region 425 435 N/A INTRINSIC
Blast:LPD_N 439 480 3e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106151
AA Change: V216I

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101757
Gene: ENSMUSG00000036825
AA Change: V216I

DomainStartEndE-ValueType
Pfam:ADIP 63 214 8.5e-51 PFAM
coiled coil region 266 291 N/A INTRINSIC
coiled coil region 374 411 N/A INTRINSIC
low complexity region 425 435 N/A INTRINSIC
Blast:LPD_N 439 480 3e-7 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000106153
AA Change: V216I

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000101759
Gene: ENSMUSG00000036825
AA Change: V216I

DomainStartEndE-ValueType
Pfam:ADIP 63 214 1.2e-47 PFAM
coiled coil region 266 291 N/A INTRINSIC
coiled coil region 374 410 N/A INTRINSIC
low complexity region 426 436 N/A INTRINSIC
Blast:LPD_N 440 481 3e-7 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141103
Meta Mutation Damage Score 0.0611 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 91% (43/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik T A 1: 192,515,731 (GRCm39) noncoding transcript Het
Adgrg6 A G 10: 14,285,507 (GRCm39) S1160P probably damaging Het
Akt1 C T 12: 112,625,567 (GRCm39) R144H probably benign Het
Arrdc3 T C 13: 81,037,182 (GRCm39) probably benign Het
Asxl2 T A 12: 3,551,774 (GRCm39) V1172E possibly damaging Het
Atp9a C T 2: 168,523,917 (GRCm39) A242T possibly damaging Het
C2cd3 C T 7: 100,023,684 (GRCm39) T90I probably damaging Het
C4bp A G 1: 130,570,692 (GRCm39) S295P probably benign Het
Cdkl2 G A 5: 92,168,168 (GRCm39) T342I probably benign Het
Cep131 T C 11: 119,955,645 (GRCm39) E1025G probably damaging Het
Crot T C 5: 9,023,643 (GRCm39) H415R probably damaging Het
Cyp17a1 A G 19: 46,656,462 (GRCm39) F411L probably damaging Het
Dgkb G T 12: 38,234,952 (GRCm39) G439V probably damaging Het
Dgkh A G 14: 78,865,523 (GRCm39) V20A probably damaging Het
Dipk1a T C 5: 108,072,500 (GRCm39) Y52C probably damaging Het
Dysf A G 6: 84,182,854 (GRCm39) N2035S probably damaging Het
Fzd1 A G 5: 4,805,777 (GRCm39) Y602H probably damaging Het
Gm38706 C A 6: 130,460,273 (GRCm39) noncoding transcript Het
Hmmr T C 11: 40,606,148 (GRCm39) Q274R probably damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Igsf9b A G 9: 27,245,548 (GRCm39) T1172A probably benign Het
Klf5 C T 14: 99,539,666 (GRCm39) R360C probably damaging Het
Lrat A G 3: 82,804,293 (GRCm39) M228T probably damaging Het
Mms19 A T 19: 41,952,372 (GRCm39) M119K possibly damaging Het
Myo3a A T 2: 22,490,149 (GRCm39) K565N probably damaging Het
Or10n1 A T 9: 39,525,294 (GRCm39) I144L probably benign Het
Or1ad6 C T 11: 50,860,690 (GRCm39) P282S probably damaging Het
Or3a1d T C 11: 74,237,588 (GRCm39) D274G probably benign Het
Pcdha6 A G 18: 37,100,813 (GRCm39) D2G probably benign Het
Pcdhga3 A G 18: 37,808,938 (GRCm39) R464G probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pramel42 T A 5: 94,685,702 (GRCm39) I454K probably damaging Het
Rnf13 A C 3: 57,728,010 (GRCm39) K230T probably damaging Het
Sema6d A G 2: 124,505,979 (GRCm39) M596V probably damaging Het
Slc25a25 T C 2: 32,320,621 (GRCm39) K47E probably benign Het
Sptbn1 C T 11: 30,089,114 (GRCm39) R716H possibly damaging Het
Tatdn2 T G 6: 113,679,501 (GRCm39) probably null Het
Tmprss6 A G 15: 78,337,039 (GRCm39) Y356H probably damaging Het
Ttn A G 2: 76,687,210 (GRCm39) probably benign Het
Umod A G 7: 119,065,279 (GRCm39) probably null Het
Vmn2r93 T A 17: 18,524,312 (GRCm39) I102K possibly damaging Het
Zdhhc6 T C 19: 55,291,169 (GRCm39) I349V probably benign Het
Other mutations in Ssx2ip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00593:Ssx2ip APN 3 146,142,307 (GRCm39) missense probably damaging 1.00
IGL01140:Ssx2ip APN 3 146,133,598 (GRCm39) missense probably benign 0.02
IGL01810:Ssx2ip APN 3 146,133,765 (GRCm39) missense probably benign 0.00
BB004:Ssx2ip UTSW 3 146,138,365 (GRCm39) missense probably damaging 1.00
BB014:Ssx2ip UTSW 3 146,138,365 (GRCm39) missense probably damaging 1.00
R0432:Ssx2ip UTSW 3 146,132,184 (GRCm39) missense probably damaging 1.00
R0903:Ssx2ip UTSW 3 146,136,732 (GRCm39) missense probably benign
R2228:Ssx2ip UTSW 3 146,123,531 (GRCm39) missense probably damaging 0.98
R3151:Ssx2ip UTSW 3 146,124,138 (GRCm39) missense probably benign 0.00
R4348:Ssx2ip UTSW 3 146,138,245 (GRCm39) missense probably benign 0.01
R4796:Ssx2ip UTSW 3 146,124,114 (GRCm39) missense probably benign 0.00
R5054:Ssx2ip UTSW 3 146,136,672 (GRCm39) splice site probably benign
R5338:Ssx2ip UTSW 3 146,142,296 (GRCm39) critical splice acceptor site probably null
R5520:Ssx2ip UTSW 3 146,143,066 (GRCm39) missense probably benign 0.03
R5898:Ssx2ip UTSW 3 146,133,586 (GRCm39) missense possibly damaging 0.94
R6367:Ssx2ip UTSW 3 146,124,921 (GRCm39) missense probably benign 0.16
R6777:Ssx2ip UTSW 3 146,144,476 (GRCm39) missense possibly damaging 0.88
R7082:Ssx2ip UTSW 3 146,136,703 (GRCm39) missense probably benign 0.01
R7239:Ssx2ip UTSW 3 146,133,771 (GRCm39) missense probably damaging 1.00
R7249:Ssx2ip UTSW 3 146,132,193 (GRCm39) missense possibly damaging 0.81
R7772:Ssx2ip UTSW 3 146,138,885 (GRCm39) missense probably damaging 0.99
R7927:Ssx2ip UTSW 3 146,138,365 (GRCm39) missense probably damaging 1.00
R7935:Ssx2ip UTSW 3 146,124,928 (GRCm39) missense probably benign 0.00
R8011:Ssx2ip UTSW 3 146,128,666 (GRCm39) missense probably damaging 0.97
R8540:Ssx2ip UTSW 3 146,124,114 (GRCm39) missense probably benign 0.00
R9050:Ssx2ip UTSW 3 146,144,512 (GRCm39) missense possibly damaging 0.51
R9264:Ssx2ip UTSW 3 146,142,955 (GRCm39) missense probably benign 0.00
R9775:Ssx2ip UTSW 3 146,136,808 (GRCm39) missense probably benign 0.02
RF004:Ssx2ip UTSW 3 146,132,195 (GRCm39) nonsense probably null
Z1177:Ssx2ip UTSW 3 146,133,902 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCATCATGTGGGAGCATGG -3'
(R):5'- GCTGACCAAAAGGACTCAATG -3'

Sequencing Primer
(F):5'- GGGACTAGGGCTTGTTTAACC -3'
(R):5'- GCTGACCAAAAGGACTCAATGTTTTG -3'
Posted On 2015-07-21