Incidental Mutation 'IGL03210:Susd1'
ID413295
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Susd1
Ensembl Gene ENSMUSG00000038578
Gene Namesushi domain containing 1
SynonymsGm12528
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #IGL03210
Quality Score
Status
Chromosome4
Chromosomal Location59314683-59438633 bp(-) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) T to G at 59333035 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040166] [ENSMUST00000107544]
Predicted Effect probably null
Transcript: ENSMUST00000040166
SMART Domains Protein: ENSMUSP00000048201
Gene: ENSMUSG00000038578

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 16 30 N/A INTRINSIC
EGF 43 77 1.36e1 SMART
EGF_CA 78 129 2.92e-7 SMART
EGF_CA 130 180 2.22e-12 SMART
CCP 184 239 7.87e-9 SMART
CCP 244 299 5.48e-8 SMART
Blast:FN3 306 379 2e-6 BLAST
Blast:FN3 459 580 8e-50 BLAST
transmembrane domain 729 751 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000107544
SMART Domains Protein: ENSMUSP00000103168
Gene: ENSMUSG00000038578

DomainStartEndE-ValueType
EGF 28 76 2.02e-1 SMART
EGF_CA 77 127 2.22e-12 SMART
CCP 131 186 7.87e-9 SMART
CCP 191 246 5.48e-8 SMART
Blast:FN3 253 326 2e-6 BLAST
Blast:FN3 406 527 4e-50 BLAST
transmembrane domain 676 698 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136077
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136562
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik A G 4: 103,284,438 F9L probably benign Het
Adora3 T C 3: 105,907,860 S163P probably benign Het
C3 G A 17: 57,215,846 Q1013* probably null Het
Cacna1b A T 2: 24,650,572 F1381Y probably benign Het
Dcdc2b T C 4: 129,611,785 K95R probably benign Het
Dnah8 A G 17: 30,815,665 E4186G probably damaging Het
Dock1 T C 7: 134,756,939 V374A possibly damaging Het
Gramd3 A G 18: 56,474,098 T95A probably benign Het
Grk2 C T 19: 4,287,829 E508K probably benign Het
Hmgb4 A G 4: 128,260,742 V11A probably benign Het
Knl1 G A 2: 119,070,617 S933N probably benign Het
Ldlrad3 G A 2: 102,069,926 probably benign Het
Lrrc37a T A 11: 103,499,505 Y1698F probably benign Het
Ms4a14 A G 19: 11,301,961 W1078R possibly damaging Het
Nol4l G A 2: 153,529,458 P102L probably benign Het
Nsun3 A G 16: 62,770,747 F178L probably damaging Het
Nup85 T A 11: 115,566,636 Y55N probably benign Het
Olfr1006 T C 2: 85,674,353 Y266C probably damaging Het
Olfr512 T A 7: 108,713,568 Y60N probably damaging Het
Olfr740 A T 14: 50,453,983 R310S probably benign Het
Opcml A G 9: 28,901,537 E175G probably damaging Het
Pask A T 1: 93,319,992 W1074R possibly damaging Het
Pdzrn3 T C 6: 101,156,952 T439A possibly damaging Het
Pkd1l1 C A 11: 8,965,127 V138L unknown Het
Ptprj C A 2: 90,469,726 V244L probably benign Het
Rapgef5 A G 12: 117,742,872 K697E probably damaging Het
Rnf165 C A 18: 77,466,739 V60L probably damaging Het
Rp9 G T 9: 22,457,428 H78Q probably benign Het
Serpinb8 A G 1: 107,602,911 T140A probably damaging Het
Slc29a4 A T 5: 142,715,108 M203L probably damaging Het
Stag1 T A 9: 100,845,076 L363I possibly damaging Het
Thoc3 A T 13: 54,466,222 M196K probably benign Het
Tnr A G 1: 159,888,310 T881A probably benign Het
Ttbk2 A G 2: 120,822,492 V17A probably damaging Het
Ttc41 T A 10: 86,724,414 probably null Het
Utp14b A G 1: 78,665,551 M389V probably benign Het
Utp4 T A 8: 106,916,256 H515Q probably benign Het
Xpo1 A G 11: 23,278,834 H223R probably benign Het
Xpot A G 10: 121,615,227 probably benign Het
Zfp455 A T 13: 67,207,049 H127L possibly damaging Het
Zscan4e T A 7: 11,307,532 M166L probably benign Het
Other mutations in Susd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01630:Susd1 APN 4 59365817 missense possibly damaging 0.85
IGL01705:Susd1 APN 4 59332931 splice site probably benign
IGL01727:Susd1 APN 4 59412329 splice site probably benign
IGL02015:Susd1 APN 4 59315745 missense possibly damaging 0.86
IGL02102:Susd1 APN 4 59369636 missense possibly damaging 0.70
IGL02351:Susd1 APN 4 59427985 nonsense probably null
IGL02358:Susd1 APN 4 59427985 nonsense probably null
IGL03258:Susd1 APN 4 59379655 missense possibly damaging 0.73
R0612:Susd1 UTSW 4 59390561 splice site probably benign
R0719:Susd1 UTSW 4 59329506 missense possibly damaging 0.56
R0722:Susd1 UTSW 4 59379749 missense possibly damaging 0.73
R1355:Susd1 UTSW 4 59424114 missense possibly damaging 0.86
R1672:Susd1 UTSW 4 59411395 missense probably damaging 0.98
R1677:Susd1 UTSW 4 59424089 missense possibly damaging 0.85
R1921:Susd1 UTSW 4 59412191 missense probably benign 0.03
R1933:Susd1 UTSW 4 59351695 missense possibly damaging 0.72
R1998:Susd1 UTSW 4 59349925 missense probably benign 0.03
R2202:Susd1 UTSW 4 59349843 missense possibly damaging 0.96
R2203:Susd1 UTSW 4 59349843 missense possibly damaging 0.96
R2204:Susd1 UTSW 4 59349843 missense possibly damaging 0.96
R2329:Susd1 UTSW 4 59379715 missense possibly damaging 0.85
R2510:Susd1 UTSW 4 59349855 missense possibly damaging 0.86
R4512:Susd1 UTSW 4 59329491 missense possibly damaging 0.96
R4732:Susd1 UTSW 4 59428029 missense possibly damaging 0.53
R4733:Susd1 UTSW 4 59428029 missense possibly damaging 0.53
R4969:Susd1 UTSW 4 59351679 missense probably benign 0.04
R5121:Susd1 UTSW 4 59379657 missense possibly damaging 0.73
R5548:Susd1 UTSW 4 59369577 missense probably benign 0.05
R5747:Susd1 UTSW 4 59424108 missense probably damaging 0.98
R5776:Susd1 UTSW 4 59315363 utr 3 prime probably benign
R5875:Susd1 UTSW 4 59412203 missense possibly damaging 0.71
R6056:Susd1 UTSW 4 59379687 missense possibly damaging 0.53
R6081:Susd1 UTSW 4 59411359 missense possibly damaging 0.86
R7018:Susd1 UTSW 4 59390627 missense probably benign 0.44
R7122:Susd1 UTSW 4 59411318 nonsense probably null
R7161:Susd1 UTSW 4 59329581 missense possibly damaging 0.85
R7172:Susd1 UTSW 4 59315420 splice site probably null
R7891:Susd1 UTSW 4 59349915 missense possibly damaging 0.85
R7974:Susd1 UTSW 4 59349915 missense possibly damaging 0.85
Posted On2016-08-02