Incidental Mutation 'IGL01618:Susd4'
ID 92441
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Susd4
Ensembl Gene ENSMUSG00000038576
Gene Name sushi domain containing 4
Synonyms E430021N18Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.397) question?
Stock # IGL01618
Quality Score
Status
Chromosome 1
Chromosomal Location 182763860-182896591 bp(+) (GRCm38)
Type of Mutation splice site (4421 bp from exon)
DNA Base Change (assembly) A to G at 182858461 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085724] [ENSMUST00000153348] [ENSMUST00000155229]
AlphaFold Q8BH32
Predicted Effect probably damaging
Transcript: ENSMUST00000085724
AA Change: N192S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000082873
Gene: ENSMUSG00000038576
AA Change: N192S

DomainStartEndE-ValueType
low complexity region 14 30 N/A INTRINSIC
CCP 57 117 4.59e-10 SMART
CCP 122 177 2.58e-4 SMART
CCP 180 237 1.06e-14 SMART
CCP 243 302 1.3e-9 SMART
transmembrane domain 317 339 N/A INTRINSIC
low complexity region 351 374 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000153348
AA Change: N192S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119488
Gene: ENSMUSG00000038576
AA Change: N192S

DomainStartEndE-ValueType
low complexity region 14 30 N/A INTRINSIC
CCP 57 117 4.59e-10 SMART
CCP 122 177 2.58e-4 SMART
CCP 180 237 1.06e-14 SMART
CCP 243 302 1.3e-9 SMART
transmembrane domain 317 339 N/A INTRINSIC
low complexity region 351 374 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000155229
SMART Domains Protein: ENSMUSP00000142330
Gene: ENSMUSG00000038576

DomainStartEndE-ValueType
low complexity region 14 30 N/A INTRINSIC
CCP 57 117 2.2e-12 SMART
Blast:CCP 122 148 4e-11 BLAST
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl5 C T 19: 55,272,833 A74V probably benign Het
Adh4 C T 3: 138,429,027 probably benign Het
Aldh1a3 G A 7: 66,409,230 T239I probably damaging Het
Anxa9 A G 3: 95,300,536 probably null Het
Atp5k C A 5: 108,434,033 K28N probably damaging Het
C9 T G 15: 6,459,668 Y169D probably benign Het
Cbwd1 T C 19: 24,940,776 E210G possibly damaging Het
Chat T A 14: 32,446,892 probably null Het
Csmd3 C T 15: 48,011,083 E706K probably benign Het
Ctbs A G 3: 146,455,112 K145E probably benign Het
Dennd5a A G 7: 109,934,095 M156T probably damaging Het
Dhx29 A G 13: 112,965,222 Y1275C probably damaging Het
Dpp10 A T 1: 123,367,867 F517Y probably benign Het
Dst G A 1: 34,188,909 W1536* probably null Het
Galc T C 12: 98,252,081 T171A possibly damaging Het
Gsap T C 5: 21,226,248 I190T probably damaging Het
Hars2 A T 18: 36,789,577 R388* probably null Het
Igsf21 C T 4: 140,107,364 G66S possibly damaging Het
Itgbl1 T A 14: 123,827,799 S122T possibly damaging Het
Jhy G T 9: 40,960,964 T83K possibly damaging Het
Kcne4 A T 1: 78,817,808 M58L possibly damaging Het
Lamc3 T A 2: 31,912,107 I509N probably damaging Het
Lpar6 T C 14: 73,239,066 S156P probably damaging Het
Man2c1 T C 9: 57,141,556 probably benign Het
March11 T C 15: 26,409,199 I328T possibly damaging Het
Mc3r T A 2: 172,249,370 C171S probably benign Het
Muc4 A T 16: 32,756,627 Q2167L unknown Het
Myom1 T C 17: 71,099,993 V1135A possibly damaging Het
Nectin1 C T 9: 43,791,258 R101* probably null Het
Nxpe4 T C 9: 48,394,140 S277P possibly damaging Het
Olfr1152 A C 2: 87,868,144 D51A probably damaging Het
Olfr1459 T A 19: 13,146,250 K136N probably benign Het
Olfr395 T C 11: 73,907,477 N5S probably damaging Het
Olfr437 T A 6: 43,167,703 V215E probably damaging Het
Olfr584 G A 7: 103,086,375 V281I probably benign Het
Pappa2 G T 1: 158,857,378 N730K probably damaging Het
Prepl A G 17: 85,066,281 V586A probably damaging Het
Prrc2a T C 17: 35,149,553 Y2098C probably damaging Het
Rdh16 G A 10: 127,801,307 C37Y probably damaging Het
Rnd1 A T 15: 98,673,865 M100K probably benign Het
Sema3c A G 5: 17,672,506 N204D probably damaging Het
Taar7f G T 10: 24,050,341 A278S possibly damaging Het
Tle4 T A 19: 14,544,814 M122L probably benign Het
Trim9 C T 12: 70,248,351 V662I probably benign Het
Vmn2r10 C A 5: 109,002,479 C233F probably damaging Het
Vmn2r98 A C 17: 19,065,259 T114P possibly damaging Het
Zfyve21 C T 12: 111,827,813 probably benign Het
Other mutations in Susd4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Susd4 APN 1 182891987 missense probably damaging 1.00
IGL02505:Susd4 APN 1 182892080 missense probably benign 0.09
R0315:Susd4 UTSW 1 182858512 missense probably benign
R1668:Susd4 UTSW 1 182858563 missense probably benign 0.11
R1704:Susd4 UTSW 1 182854113 missense probably damaging 1.00
R1730:Susd4 UTSW 1 182853978 missense probably damaging 1.00
R2171:Susd4 UTSW 1 182892194 missense probably benign
R3912:Susd4 UTSW 1 182887466 missense probably damaging 1.00
R4601:Susd4 UTSW 1 182858460 missense probably damaging 1.00
R4701:Susd4 UTSW 1 182892061 missense probably damaging 0.99
R5256:Susd4 UTSW 1 182892259 missense possibly damaging 0.95
R5279:Susd4 UTSW 1 182887478 missense probably damaging 1.00
R5598:Susd4 UTSW 1 182892070 missense probably benign 0.00
R6715:Susd4 UTSW 1 182892037 missense probably benign 0.19
R7023:Susd4 UTSW 1 182765048 missense probably damaging 0.99
R7056:Susd4 UTSW 1 182833156 missense probably benign 0.31
R7788:Susd4 UTSW 1 182895202 missense possibly damaging 0.94
R7832:Susd4 UTSW 1 182858505 missense probably benign 0.03
R8075:Susd4 UTSW 1 182765183 missense possibly damaging 0.80
R8683:Susd4 UTSW 1 182892267 critical splice donor site probably null
R9039:Susd4 UTSW 1 182854032 missense probably benign
R9267:Susd4 UTSW 1 182888824 missense probably benign 0.03
R9437:Susd4 UTSW 1 182854132 critical splice donor site probably null
R9474:Susd4 UTSW 1 182892100 missense probably benign 0.00
R9687:Susd4 UTSW 1 182895197 critical splice acceptor site probably null
Posted On 2013-12-09