Incidental Mutation 'R5747:Susd1'
ID 445812
Institutional Source Beutler Lab
Gene Symbol Susd1
Ensembl Gene ENSMUSG00000038578
Gene Name sushi domain containing 1
Synonyms Gm12528
MMRRC Submission 043354-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R5747 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 59314683-59438633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 59424108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 39 (N39I)
Ref Sequence ENSEMBL: ENSMUSP00000103168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040166] [ENSMUST00000107544]
AlphaFold E9Q3H4
Predicted Effect probably damaging
Transcript: ENSMUST00000040166
AA Change: N92I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048201
Gene: ENSMUSG00000038578
AA Change: N92I

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 damaging
Transcript: ENSMUST00000107544
AA Change: N39I

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103168
Gene: ENSMUSG00000038578
AA Change: N39I

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
Meta Mutation Damage Score 0.3247 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A T 1: 25,865,643 (GRCm39) Y67N probably damaging Het
Akap8l T C 17: 32,564,352 (GRCm39) T12A probably damaging Het
Anapc1 A G 2: 128,466,836 (GRCm39) V1620A probably benign Het
Ank2 A G 3: 126,735,400 (GRCm39) probably benign Het
Ankrd34c C T 9: 89,611,814 (GRCm39) V176M possibly damaging Het
Arhgap39 C T 15: 76,625,735 (GRCm39) D190N possibly damaging Het
Cbl A G 9: 44,112,416 (GRCm39) L93P probably damaging Het
Crebl2 C T 6: 134,828,103 (GRCm39) L92F probably damaging Het
Dclre1a A G 19: 56,529,964 (GRCm39) V791A probably damaging Het
Dzip1l T A 9: 99,521,862 (GRCm39) probably null Het
Echs1 T C 7: 139,691,725 (GRCm39) probably benign Het
Eif1ad16 C T 12: 87,985,366 (GRCm39) C59Y possibly damaging Het
Epha4 A G 1: 77,483,520 (GRCm39) I163T probably damaging Het
Fdft1 A G 14: 63,384,288 (GRCm39) S388P probably damaging Het
Gbx2 A G 1: 89,856,437 (GRCm39) S318P probably damaging Het
Gkn1 T A 6: 87,323,319 (GRCm39) T165S probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm10801 G C 2: 98,494,352 (GRCm39) R143T possibly damaging Het
Gm5093 T G 17: 46,750,916 (GRCm39) E37A possibly damaging Het
Gm527 A T 12: 64,967,620 (GRCm39) N14I probably damaging Het
Gnaz C T 10: 74,827,235 (GRCm39) probably benign Het
Grik2 T C 10: 49,399,870 (GRCm39) T287A probably benign Het
Gtf2h4 T C 17: 35,981,273 (GRCm39) Y220C possibly damaging Het
Igkv8-28 T C 6: 70,121,141 (GRCm39) E2G probably benign Het
Itgbl1 T A 14: 124,209,576 (GRCm39) Y318* probably null Het
Kcnh5 T C 12: 74,945,194 (GRCm39) E685G probably benign Het
Kctd18 A T 1: 58,001,183 (GRCm39) probably benign Het
Ldhal6b A C 17: 5,468,094 (GRCm39) V280G probably damaging Het
Ldhd T C 8: 112,355,703 (GRCm39) T182A probably damaging Het
Lman2l T C 1: 36,464,038 (GRCm39) D272G possibly damaging Het
Lrrc63 T C 14: 75,363,904 (GRCm39) T76A probably benign Het
Map3k3 A G 11: 106,041,236 (GRCm39) T402A probably benign Het
Mdga1 C T 17: 30,069,525 (GRCm39) D174N probably benign Het
Mob4 A G 1: 55,187,737 (GRCm39) M68V probably damaging Het
Or1j15 A T 2: 36,458,979 (GRCm39) Y123F probably damaging Het
Rassf8 A G 6: 145,761,541 (GRCm39) E289G probably benign Het
Rnf17 T C 14: 56,703,276 (GRCm39) probably null Het
Rp9 A G 9: 22,359,960 (GRCm39) probably benign Het
Rrm2b T C 15: 37,927,634 (GRCm39) Q92R probably benign Het
Sema6d C T 2: 124,506,867 (GRCm39) P879S probably damaging Het
Slc27a2 T A 2: 126,406,658 (GRCm39) M114K probably benign Het
Slc4a5 T A 6: 83,248,011 (GRCm39) Y521N probably damaging Het
Slc6a4 A T 11: 76,901,337 (GRCm39) N24I probably damaging Het
Spata13 T A 14: 60,984,952 (GRCm39) D815E probably benign Het
Spocd1 A G 4: 129,848,738 (GRCm39) D656G probably damaging Het
Vps13d G A 4: 144,894,853 (GRCm39) T417I probably benign Het
Wdr31 C T 4: 62,381,637 (GRCm39) V65I probably damaging Het
Zfp783 T C 6: 47,925,829 (GRCm39) probably benign Het
Other mutations in Susd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01630:Susd1 APN 4 59,365,817 (GRCm39) missense possibly damaging 0.85
IGL01705:Susd1 APN 4 59,332,931 (GRCm39) splice site probably benign
IGL01727:Susd1 APN 4 59,412,329 (GRCm39) splice site probably benign
IGL02015:Susd1 APN 4 59,315,745 (GRCm39) missense possibly damaging 0.86
IGL02102:Susd1 APN 4 59,369,636 (GRCm39) missense possibly damaging 0.70
IGL02351:Susd1 APN 4 59,427,985 (GRCm39) nonsense probably null
IGL02358:Susd1 APN 4 59,427,985 (GRCm39) nonsense probably null
IGL03210:Susd1 APN 4 59,333,035 (GRCm39) critical splice acceptor site probably null
IGL03258:Susd1 APN 4 59,379,655 (GRCm39) missense possibly damaging 0.73
R0612:Susd1 UTSW 4 59,390,561 (GRCm39) splice site probably benign
R0719:Susd1 UTSW 4 59,329,506 (GRCm39) missense possibly damaging 0.56
R0722:Susd1 UTSW 4 59,379,749 (GRCm39) missense possibly damaging 0.73
R1355:Susd1 UTSW 4 59,424,114 (GRCm39) missense possibly damaging 0.86
R1672:Susd1 UTSW 4 59,411,395 (GRCm39) missense probably damaging 0.98
R1677:Susd1 UTSW 4 59,424,089 (GRCm39) missense possibly damaging 0.85
R1921:Susd1 UTSW 4 59,412,191 (GRCm39) missense probably benign 0.03
R1933:Susd1 UTSW 4 59,351,695 (GRCm39) missense possibly damaging 0.72
R1998:Susd1 UTSW 4 59,349,925 (GRCm39) missense probably benign 0.03
R2202:Susd1 UTSW 4 59,349,843 (GRCm39) missense possibly damaging 0.96
R2203:Susd1 UTSW 4 59,349,843 (GRCm39) missense possibly damaging 0.96
R2204:Susd1 UTSW 4 59,349,843 (GRCm39) missense possibly damaging 0.96
R2329:Susd1 UTSW 4 59,379,715 (GRCm39) missense possibly damaging 0.85
R2510:Susd1 UTSW 4 59,349,855 (GRCm39) missense possibly damaging 0.86
R4512:Susd1 UTSW 4 59,329,491 (GRCm39) missense possibly damaging 0.96
R4732:Susd1 UTSW 4 59,428,029 (GRCm39) missense possibly damaging 0.53
R4733:Susd1 UTSW 4 59,428,029 (GRCm39) missense possibly damaging 0.53
R4969:Susd1 UTSW 4 59,351,679 (GRCm39) missense probably benign 0.04
R5121:Susd1 UTSW 4 59,379,657 (GRCm39) missense possibly damaging 0.73
R5548:Susd1 UTSW 4 59,369,577 (GRCm39) missense probably benign 0.05
R5776:Susd1 UTSW 4 59,315,363 (GRCm39) utr 3 prime probably benign
R5875:Susd1 UTSW 4 59,412,203 (GRCm39) missense possibly damaging 0.71
R6056:Susd1 UTSW 4 59,379,687 (GRCm39) missense possibly damaging 0.53
R6081:Susd1 UTSW 4 59,411,359 (GRCm39) missense possibly damaging 0.86
R7018:Susd1 UTSW 4 59,390,627 (GRCm39) missense probably benign 0.44
R7122:Susd1 UTSW 4 59,411,318 (GRCm39) nonsense probably null
R7161:Susd1 UTSW 4 59,329,581 (GRCm39) missense possibly damaging 0.85
R7172:Susd1 UTSW 4 59,315,420 (GRCm39) splice site probably null
R7891:Susd1 UTSW 4 59,349,915 (GRCm39) missense possibly damaging 0.85
R8103:Susd1 UTSW 4 59,365,916 (GRCm39) critical splice acceptor site probably null
R8299:Susd1 UTSW 4 59,315,773 (GRCm39) missense probably benign 0.33
R8472:Susd1 UTSW 4 59,332,985 (GRCm39) missense possibly damaging 0.96
R8831:Susd1 UTSW 4 59,379,594 (GRCm39) splice site probably benign
R8903:Susd1 UTSW 4 59,390,576 (GRCm39) missense probably benign 0.02
R8981:Susd1 UTSW 4 59,380,883 (GRCm39) missense probably benign 0.07
R9002:Susd1 UTSW 4 59,324,882 (GRCm39) missense probably benign 0.00
R9091:Susd1 UTSW 4 59,412,226 (GRCm39) missense probably benign 0.44
R9270:Susd1 UTSW 4 59,412,226 (GRCm39) missense probably benign 0.44
R9296:Susd1 UTSW 4 59,427,865 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- ACAAGGCTCTCGACCATGAC -3'
(R):5'- ACAGCGGGTATATAATTATGAGCC -3'

Sequencing Primer
(F):5'- GCTCTCGACCATGACCCCAC -3'
(R):5'- CGGGTATATAATTATGAGCCAGCTCC -3'
Posted On 2016-11-21