Incidental Mutation 'R4512:Susd1'
ID 331254
Institutional Source Beutler Lab
Gene Symbol Susd1
Ensembl Gene ENSMUSG00000038578
Gene Name sushi domain containing 1
Synonyms Gm12528
MMRRC Submission 041587-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R4512 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 59314683-59438633 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59329491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 646 (L646Q)
Ref Sequence ENSEMBL: ENSMUSP00000103168 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040166] [ENSMUST00000107544]
AlphaFold E9Q3H4
Predicted Effect possibly damaging
Transcript: ENSMUST00000040166
AA Change: L699Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000048201
Gene: ENSMUSG00000038578
AA Change: L699Q

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 possibly damaging
Transcript: ENSMUST00000107544
AA Change: L646Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103168
Gene: ENSMUSG00000038578
AA Change: L646Q

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,978,573 (GRCm39) D573V probably damaging Het
Adgrg5 T C 8: 95,660,652 (GRCm39) V93A possibly damaging Het
Akr1c20 A C 13: 4,557,843 (GRCm39) V201G probably damaging Het
Alpk1 T C 3: 127,478,120 (GRCm39) probably benign Het
Aopep A T 13: 63,304,481 (GRCm39) T497S probably damaging Het
Atp6v1h T C 1: 5,168,358 (GRCm39) probably null Het
Aup1 C T 6: 83,033,368 (GRCm39) R248* probably null Het
BC016579 C A 16: 45,453,363 (GRCm39) A151S possibly damaging Het
Cenpn A G 8: 117,660,135 (GRCm39) Y68C probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Chsy3 A G 18: 59,543,259 (GRCm39) D799G probably damaging Het
Dnah6 G A 6: 73,155,399 (GRCm39) R739W probably damaging Het
Dync2h1 A T 9: 7,085,009 (GRCm39) C553* probably null Het
Fhl4 A G 10: 84,934,578 (GRCm39) S68P possibly damaging Het
Gcc1 T C 6: 28,419,208 (GRCm39) E375G probably benign Het
Gm10110 A G 14: 90,135,151 (GRCm39) noncoding transcript Het
Hspbap1 C T 16: 35,607,611 (GRCm39) S39F probably damaging Het
Lmln G A 16: 32,908,507 (GRCm39) R311Q probably benign Het
Ly6e T A 15: 74,829,682 (GRCm39) V24D probably damaging Het
Magi3 T C 3: 103,996,871 (GRCm39) T225A probably damaging Het
Mark1 C A 1: 184,639,286 (GRCm39) R577L probably benign Het
Mlxip G T 5: 123,533,128 (GRCm39) V46L probably benign Het
Mrpl40 T C 16: 18,691,308 (GRCm39) D134G probably benign Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nalcn T C 14: 123,532,860 (GRCm39) Y1300C probably damaging Het
Nav3 T C 10: 109,529,943 (GRCm39) I2133V possibly damaging Het
Ndst3 T C 3: 123,465,315 (GRCm39) D219G probably damaging Het
Nfkbie C T 17: 45,867,165 (GRCm39) S100L probably benign Het
Oard1 A G 17: 48,723,788 (GRCm39) I145V probably benign Het
Odf2 C T 2: 29,816,109 (GRCm39) probably null Het
Oplah A G 15: 76,182,155 (GRCm39) L1035P probably damaging Het
Or4n4b C A 14: 50,536,453 (GRCm39) L104F probably damaging Het
Or51t4 T C 7: 102,597,945 (GRCm39) L81P probably damaging Het
Or5m3b T C 2: 85,871,913 (GRCm39) S85P probably damaging Het
Otud7a T C 7: 63,379,625 (GRCm39) F284L probably benign Het
Parg T C 14: 31,984,693 (GRCm39) V241A probably damaging Het
Pla2g4a T A 1: 149,736,802 (GRCm39) probably null Het
Psd4 C T 2: 24,292,901 (GRCm39) R684C probably damaging Het
Pttg1ip T C 10: 77,432,902 (GRCm39) probably benign Het
R3hcc1 A G 14: 69,936,060 (GRCm39) S250P probably damaging Het
Rere T A 4: 150,561,909 (GRCm39) Y272N unknown Het
Selplg A G 5: 113,957,124 (GRCm39) V394A probably benign Het
Senp7 T G 16: 55,986,246 (GRCm39) F559V probably damaging Het
Slc16a7 T G 10: 125,069,308 (GRCm39) probably null Het
Smim3 A T 18: 60,608,556 (GRCm39) V32D probably damaging Het
Spsb3 A G 17: 25,109,270 (GRCm39) D47G probably damaging Het
St6gal2 A T 17: 55,790,018 (GRCm39) N351Y probably benign Het
Stk11 T C 10: 79,962,211 (GRCm39) probably benign Het
Tmprss11a A G 5: 86,576,437 (GRCm39) V138A probably benign Het
Ttn C A 2: 76,728,969 (GRCm39) probably benign Het
Ttn T C 2: 76,580,814 (GRCm39) K15033E probably damaging Het
Tyrp1 G T 4: 80,755,749 (GRCm39) D173Y probably damaging Het
Uncx A G 5: 139,532,522 (GRCm39) I196V possibly damaging Het
Vamp4 A T 1: 162,405,457 (GRCm39) D28V possibly damaging Het
Vmn2r78 C T 7: 86,569,452 (GRCm39) S115F probably benign Het
Zeb1 G A 18: 5,759,007 (GRCm39) C138Y probably damaging Het
Zfp985 G A 4: 147,668,020 (GRCm39) C296Y probably damaging 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
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
R5747:Susd1 UTSW 4 59,424,108 (GRCm39) missense probably damaging 0.98
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'- GGTCACCGTAAACATGGGAG -3'
(R):5'- AAGGCATGACTTCATTCTTTGGC -3'

Sequencing Primer
(F):5'- GCAAGTACACTGTAGCTGTCTTCAG -3'
(R):5'- GCATGACTTCATTCTTTGGCAACAC -3'
Posted On 2015-07-21