Incidental Mutation 'R7697:Susd3'
ID593730
Institutional Source Beutler Lab
Gene Symbol Susd3
Ensembl Gene ENSMUSG00000021384
Gene Namesushi domain containing 3
Synonyms2810440J20Rik, 1700017I11Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #R7697 (G1)
Quality Score225.009
Status Not validated
Chromosome13
Chromosomal Location49230690-49248706 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 49237598 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Leucine at position 147 (W147L)
Ref Sequence ENSEMBL: ENSMUSP00000061423 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021816] [ENSMUST00000058196] [ENSMUST00000119721] [ENSMUST00000135784]
Predicted Effect probably damaging
Transcript: ENSMUST00000021816
AA Change: W135L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021816
Gene: ENSMUSG00000021384
AA Change: W135L

DomainStartEndE-ValueType
CCP 20 79 2.11e-9 SMART
transmembrane domain 95 117 N/A INTRINSIC
low complexity region 154 179 N/A INTRINSIC
low complexity region 218 231 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000058196
AA Change: W147L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000061423
Gene: ENSMUSG00000021384
AA Change: W147L

DomainStartEndE-ValueType
CCP 32 91 2.11e-9 SMART
transmembrane domain 107 129 N/A INTRINSIC
low complexity region 166 191 N/A INTRINSIC
low complexity region 230 243 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119721
SMART Domains Protein: ENSMUSP00000113631
Gene: ENSMUSG00000021384

DomainStartEndE-ValueType
CCP 32 91 2.11e-9 SMART
transmembrane domain 107 129 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000135784
AA Change: W72L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000115888
Gene: ENSMUSG00000021384
AA Change: W72L

DomainStartEndE-ValueType
transmembrane domain 32 54 N/A INTRINSIC
low complexity region 91 116 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd4 T C 14: 54,262,759 V87A probably damaging Het
Acadsb A G 7: 131,429,969 E178G probably damaging Het
Acoxl A G 2: 127,978,782 T365A probably benign Het
Adcy8 T G 15: 64,747,001 I768L probably benign Het
Bloc1s4 A G 5: 36,748,615 S11P probably benign Het
Brinp2 T C 1: 158,267,926 I122V probably benign Het
Brwd1 T C 16: 96,046,401 D673G probably benign Het
Cbx8 C A 11: 119,040,811 E14* probably null Het
Cep295 T A 9: 15,354,710 M49L probably benign Het
Cfap157 T C 2: 32,779,753 N273D probably benign Het
Cntn3 A T 6: 102,208,166 V663E probably damaging Het
Cntn3 C T 6: 102,208,167 V663M probably damaging Het
Cspg5 G C 9: 110,256,226 R488S probably damaging Het
Csrnp2 A T 15: 100,488,072 M95K probably damaging Het
Dnah3 A T 7: 119,967,434 V136E Het
Drg2 T A 11: 60,462,177 I212N probably damaging Het
Egfem1 T C 3: 29,690,197 probably null Het
Enpep T A 3: 129,309,101 D402V probably damaging Het
Fanci T A 7: 79,406,292 probably null Het
Fgd6 T A 10: 94,045,444 V720D probably damaging Het
Fhod1 T A 8: 105,347,931 probably benign Het
Flnc T A 6: 29,456,517 I2238N probably damaging Het
Frmd4a A G 2: 4,484,081 E79G probably damaging Het
Gabrr2 A T 4: 33,071,358 Y66F probably benign Het
Ggnbp1 T G 17: 27,030,762 I192S probably benign Het
Gm16368 T C 12: 88,083,979 Y95H probably damaging Het
Gm32742 C T 9: 51,147,601 V1039I probably benign Het
H2-D1 T C 17: 35,263,145 L11P probably damaging Het
Hsd17b4 A G 18: 50,130,141 Y25C probably damaging Het
Ildr2 C A 1: 166,294,731 Q248K probably benign Het
Klrb1c T C 6: 128,780,310 H264R probably benign Het
Lrp11 C T 10: 7,604,219 A346V probably benign Het
Mast4 G A 13: 102,739,203 P1319L probably damaging Het
Mcm9 A C 10: 53,615,894 F392V Het
Med12l C T 3: 59,240,657 A965V probably damaging Het
Mrps7 A G 11: 115,604,875 T80A probably benign Het
Mtor T A 4: 148,540,308 Y2125* probably null Het
Myoc A G 1: 162,647,480 E200G probably damaging Het
Natd1 A G 11: 60,906,982 V39A probably damaging Het
Notch4 C T 17: 34,570,185 T486I probably damaging Het
Olfr1109 T A 2: 87,092,818 H193L probably benign Het
Olfr1349 T C 7: 6,514,646 Y261C probably damaging Het
Olfr148 A G 9: 39,613,861 Q98R probably damaging Het
Olfr15 G A 16: 3,839,566 V198M probably damaging Het
Pdss2 T A 10: 43,345,548 I152N probably damaging Het
Peg10 C CTCA 6: 4,756,453 probably benign Het
Plec T C 15: 76,181,685 E1395G unknown Het
Polr2b T C 5: 77,320,212 Y120H probably damaging Het
Pyroxd2 C T 19: 42,747,366 C99Y probably benign Het
Rela T C 19: 5,641,602 V268A probably damaging Het
Rgs3 C T 4: 62,657,142 P589S probably benign Het
Rtn1 A G 12: 72,408,377 S59P probably benign Het
Siae A G 9: 37,633,654 Y315C probably damaging Het
Ttn A T 2: 76,871,703 probably null Het
Ubr3 A G 2: 69,897,686 Y131C probably damaging Het
Unc80 C T 1: 66,637,945 P2011L possibly damaging Het
Usp9y T C Y: 1,316,990 E1853G possibly damaging Het
Wls C A 3: 159,911,318 H331Q probably benign Het
Xkr6 C A 14: 63,607,179 P217Q probably damaging Het
Other mutations in Susd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Susd3 APN 13 49231138 makesense probably null
IGL03336:Susd3 APN 13 49238782 missense probably benign 0.09
R2122:Susd3 UTSW 13 49231150 missense probably damaging 1.00
R2343:Susd3 UTSW 13 49238859 missense probably damaging 0.99
R2923:Susd3 UTSW 13 49248469 start codon destroyed probably null 0.95
R4591:Susd3 UTSW 13 49231260 missense possibly damaging 0.57
R4661:Susd3 UTSW 13 49231302 splice site probably null
R5006:Susd3 UTSW 13 49238705 intron probably benign
R5841:Susd3 UTSW 13 49238726 intron probably benign
R6285:Susd3 UTSW 13 49237521 missense probably damaging 1.00
R6796:Susd3 UTSW 13 49237565 frame shift probably null
R7193:Susd3 UTSW 13 49231203 missense probably damaging 1.00
R7311:Susd3 UTSW 13 49248430 missense probably benign 0.00
R7572:Susd3 UTSW 13 49231162 missense probably benign 0.31
R8239:Susd3 UTSW 13 49231255 missense probably benign
Predicted Primers PCR Primer
(F):5'- CCCACCTTAGGACTAGGGTAAC -3'
(R):5'- TGACAGTGACACGCTCTTCC -3'

Sequencing Primer
(F):5'- CCTACGTGGTGAAGCTGTG -3'
(R):5'- GTCCCTGGCTGCTAACATCAG -3'
Posted On2019-11-12