Incidental Mutation 'IGL02475:Susd2'
ID 294928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Susd2
Ensembl Gene ENSMUSG00000006342
Gene Name sushi domain containing 2
Synonyms 1200011D11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # IGL02475
Quality Score
Status
Chromosome 10
Chromosomal Location 75472540-75479842 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 75473333 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000093197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077610] [ENSMUST00000095541]
AlphaFold Q9DBX3
Predicted Effect probably null
Transcript: ENSMUST00000077610
SMART Domains Protein: ENSMUSP00000076802
Gene: ENSMUSG00000006342

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
AMOP 162 310 4.09e-82 SMART
VWD 313 489 1.9e-19 SMART
CCP 602 655 3.37e-17 SMART
transmembrane domain 663 685 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000095541
SMART Domains Protein: ENSMUSP00000093197
Gene: ENSMUSG00000006342

DomainStartEndE-ValueType
SO 25 64 4.77e-2 SMART
AMOP 282 430 4.09e-82 SMART
VWD 433 609 1.9e-19 SMART
CCP 722 775 3.37e-17 SMART
transmembrane domain 783 805 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219733
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,119,343 (GRCm39) probably benign Het
5730409E04Rik A G 4: 126,505,742 (GRCm39) E90G probably damaging Het
Abhd6 T A 14: 8,039,849 (GRCm38) I27N probably damaging Het
Akap6 A T 12: 53,186,277 (GRCm39) E1230D probably benign Het
Bcl2l12 A G 7: 44,646,317 (GRCm39) V31A possibly damaging Het
Cep350 G A 1: 155,738,341 (GRCm39) R2501W probably damaging Het
Cnga3 A G 1: 37,297,072 (GRCm39) probably null Het
Crcp T C 5: 130,088,699 (GRCm39) probably benign Het
Creb5 G A 6: 53,670,909 (GRCm39) S304N probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnah5 A G 15: 28,219,296 (GRCm39) D38G probably benign Het
Fam171a1 A G 2: 3,224,527 (GRCm39) I293V possibly damaging Het
Fbxw10 T C 11: 62,748,561 (GRCm39) V396A possibly damaging Het
Gm10340 G A 14: 14,832,274 (GRCm39) probably benign Het
Grik3 A G 4: 125,544,310 (GRCm39) T344A probably benign Het
Itga7 T C 10: 128,769,958 (GRCm39) F34S probably damaging Het
Musk T C 4: 58,353,936 (GRCm39) probably benign Het
Neb G T 2: 52,182,831 (GRCm39) N1038K probably damaging Het
Nf1 T C 11: 79,426,493 (GRCm39) Y1636H probably damaging Het
Ngef G T 1: 87,406,872 (GRCm39) T632K possibly damaging Het
Nme1nme2 A G 11: 93,846,400 (GRCm39) V16A probably damaging Het
Nts A G 10: 102,326,108 (GRCm39) probably benign Het
Olfml2b A G 1: 170,509,743 (GRCm39) D697G probably damaging Het
Or5ac23 A T 16: 59,149,088 (GRCm39) H261Q probably benign Het
Or5m8 T C 2: 85,822,376 (GRCm39) F72L probably benign Het
Or9i1 T A 19: 13,839,663 (GRCm39) C169S probably damaging Het
Otof T C 5: 30,534,026 (GRCm39) R1428G probably damaging Het
Pgghg T C 7: 140,525,633 (GRCm39) S479P Het
Rnaseh2b T A 14: 62,584,064 (GRCm39) F37I probably damaging Het
Rtn4 T A 11: 29,683,801 (GRCm39) I1031N probably damaging Het
Rxfp2 A G 5: 149,987,151 (GRCm39) E344G probably benign Het
Scel A G 14: 103,774,444 (GRCm39) R89G possibly damaging Het
Sirt4 T C 5: 115,621,055 (GRCm39) E39G probably benign Het
Slc6a12 T A 6: 121,331,334 (GRCm39) probably null Het
Snapc3 C A 4: 83,368,333 (GRCm39) H277N probably benign Het
Tagap1 T C 17: 7,223,826 (GRCm39) Q290R probably benign Het
Tenm3 A T 8: 48,732,233 (GRCm39) probably benign Het
Tmem54 A T 4: 129,002,073 (GRCm39) H40L probably damaging Het
Tnks1bp1 T C 2: 84,889,721 (GRCm39) S683P probably damaging Het
Tnpo2 A G 8: 85,777,131 (GRCm39) D547G probably benign Het
Tpd52l2 G A 2: 181,141,667 (GRCm39) V17M probably benign Het
Trip11 T A 12: 101,861,942 (GRCm39) T208S probably benign Het
Ttc17 C A 2: 94,194,721 (GRCm39) D551Y probably damaging Het
Ttll12 A T 15: 83,471,302 (GRCm39) W222R probably damaging Het
Xkr8 A T 4: 132,455,512 (GRCm39) I287N probably damaging Het
Zdhhc2 G T 8: 40,926,066 (GRCm39) G354C probably null Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Susd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00740:Susd2 APN 10 75,473,882 (GRCm39) missense probably benign 0.02
IGL00907:Susd2 APN 10 75,476,765 (GRCm39) missense probably benign 0.04
IGL01155:Susd2 APN 10 75,476,726 (GRCm39) missense possibly damaging 0.87
IGL01677:Susd2 APN 10 75,475,265 (GRCm39) missense possibly damaging 0.91
IGL02146:Susd2 APN 10 75,474,267 (GRCm39) missense possibly damaging 0.79
IGL02273:Susd2 APN 10 75,476,772 (GRCm39) missense possibly damaging 0.94
IGL02386:Susd2 APN 10 75,475,929 (GRCm39) missense probably damaging 0.97
IGL03218:Susd2 APN 10 75,478,459 (GRCm39) missense probably benign
PIT4418001:Susd2 UTSW 10 75,474,183 (GRCm39) missense probably benign 0.24
R0135:Susd2 UTSW 10 75,474,348 (GRCm39) missense probably damaging 1.00
R0396:Susd2 UTSW 10 75,475,745 (GRCm39) missense probably damaging 1.00
R0401:Susd2 UTSW 10 75,474,437 (GRCm39) splice site probably benign
R0608:Susd2 UTSW 10 75,474,069 (GRCm39) missense probably benign 0.45
R0636:Susd2 UTSW 10 75,475,184 (GRCm39) missense probably damaging 1.00
R1470:Susd2 UTSW 10 75,473,888 (GRCm39) missense probably damaging 1.00
R1470:Susd2 UTSW 10 75,473,888 (GRCm39) missense probably damaging 1.00
R1619:Susd2 UTSW 10 75,473,878 (GRCm39) missense possibly damaging 0.66
R1634:Susd2 UTSW 10 75,473,389 (GRCm39) missense probably benign 0.04
R1866:Susd2 UTSW 10 75,475,566 (GRCm39) missense probably damaging 0.98
R4354:Susd2 UTSW 10 75,475,562 (GRCm39) missense probably damaging 0.99
R4451:Susd2 UTSW 10 75,475,232 (GRCm39) missense probably damaging 1.00
R4721:Susd2 UTSW 10 75,473,964 (GRCm39) missense probably benign 0.00
R5546:Susd2 UTSW 10 75,478,052 (GRCm39) missense probably benign 0.01
R5768:Susd2 UTSW 10 75,473,853 (GRCm39) missense probably damaging 0.98
R5769:Susd2 UTSW 10 75,473,853 (GRCm39) missense probably damaging 0.98
R5770:Susd2 UTSW 10 75,473,853 (GRCm39) missense probably damaging 0.98
R5771:Susd2 UTSW 10 75,473,853 (GRCm39) missense probably damaging 0.98
R5960:Susd2 UTSW 10 75,475,770 (GRCm39) missense probably damaging 1.00
R6152:Susd2 UTSW 10 75,473,853 (GRCm39) missense probably damaging 0.98
R6153:Susd2 UTSW 10 75,473,853 (GRCm39) missense probably damaging 0.98
R6259:Susd2 UTSW 10 75,473,880 (GRCm39) missense probably damaging 1.00
R6291:Susd2 UTSW 10 75,473,408 (GRCm39) missense possibly damaging 0.61
R7106:Susd2 UTSW 10 75,473,887 (GRCm39) missense probably damaging 1.00
R7232:Susd2 UTSW 10 75,475,685 (GRCm39) missense probably damaging 1.00
R7297:Susd2 UTSW 10 75,478,402 (GRCm39) missense probably benign 0.19
R7326:Susd2 UTSW 10 75,478,399 (GRCm39) missense probably benign 0.00
R7905:Susd2 UTSW 10 75,475,491 (GRCm39) nonsense probably null
R8512:Susd2 UTSW 10 75,475,485 (GRCm39) missense probably benign 0.13
R8888:Susd2 UTSW 10 75,475,452 (GRCm39) missense possibly damaging 0.58
R8895:Susd2 UTSW 10 75,475,452 (GRCm39) missense possibly damaging 0.58
X0025:Susd2 UTSW 10 75,476,406 (GRCm39) nonsense probably null
Z1177:Susd2 UTSW 10 75,476,312 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16