Incidental Mutation 'IGL01705:Susd1'
ID104581
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: 0.092) question?
Stock #IGL01705
Quality Score
Status
Chromosome4
Chromosomal Location59314683-59438633 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 59332931 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040166] [ENSMUST00000107544]
Predicted Effect probably benign
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 benign
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A G 18: 59,032,966 T1077A possibly damaging Het
Akap13 T C 7: 75,746,767 V2504A possibly damaging Het
Anks3 A T 16: 4,947,723 W172R probably benign Het
Asap2 T A 12: 21,249,368 N633K possibly damaging Het
Astn1 A T 1: 158,504,313 S326C probably damaging Het
Cachd1 A G 4: 100,983,539 K900E possibly damaging Het
Cd5 A T 19: 10,726,295 probably null Het
D130043K22Rik T A 13: 24,857,941 N284K probably benign Het
Dtna C T 18: 23,545,731 A38V probably damaging Het
Eny2 C A 15: 44,432,435 probably null Het
Grm5 A G 7: 88,130,046 Q930R possibly damaging Het
Igkv4-73 A T 6: 69,197,725 noncoding transcript Het
Lama2 A T 10: 27,189,274 probably benign Het
Lipg A G 18: 74,947,971 probably null Het
Mettl7b T A 10: 128,958,862 I198F probably benign Het
Neto2 T C 8: 85,641,003 K371E probably damaging Het
Olfr965 T C 9: 39,719,581 M118T possibly damaging Het
Paxbp1 A G 16: 91,016,988 F834L probably benign Het
Paxip1 A T 5: 27,748,859 S946R probably damaging Het
Pclo A G 5: 14,677,865 probably benign Het
Plcg2 T C 8: 117,581,662 L331P probably damaging Het
Reep1 A G 6: 71,773,288 T95A probably damaging Het
Rfx2 A G 17: 56,785,303 Y332H possibly damaging Het
Smchd1 A T 17: 71,381,398 D1288E probably damaging Het
Spag17 A G 3: 100,022,730 M582V probably benign Het
Syt9 T G 7: 107,436,352 L192R probably damaging Het
Tlr6 T C 5: 64,954,130 K478R probably benign Het
Tmem115 G T 9: 107,535,204 L242F probably benign Het
Tnfaip1 T C 11: 78,525,468 D263G probably benign Het
Ubqln3 T A 7: 104,142,677 I69F probably damaging Het
Vps52 T C 17: 33,966,068 L712P probably damaging Het
Other mutations in Susd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01630:Susd1 APN 4 59365817 missense possibly damaging 0.85
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
IGL03210:Susd1 APN 4 59333035 critical splice acceptor site 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
Posted On2014-01-21