Incidental Mutation 'R5947:Susd5'
ID 501990
Institutional Source Beutler Lab
Gene Symbol Susd5
Ensembl Gene ENSMUSG00000086596
Gene Name sushi domain containing 5
Synonyms LOC382111
MMRRC Submission 044138-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R5947 (G1)
Quality Score 78
Status Validated
Chromosome 9
Chromosomal Location 113886422-113927801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113886659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 16 (L16P)
Ref Sequence ENSEMBL: ENSMUSP00000128826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000135338]
AlphaFold G3UW60
Predicted Effect possibly damaging
Transcript: ENSMUST00000135338
AA Change: L16P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000128826
Gene: ENSMUSG00000086596
AA Change: L16P

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
LINK 33 130 7.42e-26 SMART
CCP 136 193 9.65e-1 SMART
low complexity region 416 428 N/A INTRINSIC
low complexity region 485 496 N/A INTRINSIC
transmembrane domain 566 588 N/A INTRINSIC
Meta Mutation Damage Score 0.2044 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 T C 8: 124,694,737 (GRCm39) probably null Het
Abt1 T C 13: 23,606,225 (GRCm39) E243G possibly damaging Het
Afap1l1 A G 18: 61,876,771 (GRCm39) S361P probably damaging Het
Alms1 T C 6: 85,596,694 (GRCm39) S507P probably benign Het
Atp13a3 A G 16: 30,181,518 (GRCm39) V34A probably benign Het
Atpaf2 A T 11: 60,296,708 (GRCm39) probably benign Het
Bbs1 A C 19: 4,943,022 (GRCm39) L456R probably benign Het
Bri3bp G T 5: 125,529,217 (GRCm39) G84* probably null Het
Bri3bp G C 5: 125,529,218 (GRCm39) probably benign Het
Car10 A C 11: 93,381,439 (GRCm39) H134P probably damaging Het
Cntrl A G 2: 35,006,691 (GRCm39) E119G probably damaging Het
Cxcl3 C T 5: 90,934,175 (GRCm39) probably benign Het
Dppa4 T C 16: 48,111,471 (GRCm39) V100A possibly damaging Het
Elmo1 G T 13: 20,474,553 (GRCm39) E105* probably null Het
Esrp2 T G 8: 106,859,565 (GRCm39) probably benign Het
Exoc3l4 A G 12: 111,388,835 (GRCm39) K108R possibly damaging Het
Exph5 G A 9: 53,286,522 (GRCm39) R1201H probably benign Het
Galnt3 A C 2: 65,914,500 (GRCm39) probably benign Het
Gm14486 C T 2: 30,548,813 (GRCm39) noncoding transcript Het
Gna12 T A 5: 140,746,717 (GRCm39) I243F probably damaging Het
Itga5 A T 15: 103,265,212 (GRCm39) W232R probably damaging Het
Lekr1 A T 3: 65,680,498 (GRCm39) noncoding transcript Het
Lrp1 C T 10: 127,425,423 (GRCm39) probably null Het
Mast4 T C 13: 102,872,148 (GRCm39) M2215V probably benign Het
Mfap5 T C 6: 122,502,945 (GRCm39) Y52H probably damaging Het
Mrps31 A G 8: 22,904,991 (GRCm39) K127E possibly damaging Het
Mto1 C T 9: 78,368,311 (GRCm39) T485M probably damaging Het
Mybbp1a G A 11: 72,333,257 (GRCm39) C107Y probably damaging Het
Nedd4 G A 9: 72,638,132 (GRCm39) probably benign Het
Nek2 A G 1: 191,561,597 (GRCm39) E360G probably benign Het
Notch1 T A 2: 26,352,540 (GRCm39) probably benign Het
Nubp1 T C 16: 10,238,050 (GRCm39) probably benign Het
Pcdhb1 G A 18: 37,399,726 (GRCm39) R559H possibly damaging Het
Pdcd11 G A 19: 47,117,702 (GRCm39) V1684I probably benign Het
Pggt1b G T 18: 46,382,007 (GRCm39) N258K probably benign Het
Pou6f1 C T 15: 100,484,001 (GRCm39) V166M possibly damaging Het
Pprc1 A G 19: 46,052,111 (GRCm39) D546G possibly damaging Het
Psapl1 T C 5: 36,361,651 (GRCm39) V81A probably benign Het
Rin2 T A 2: 145,686,863 (GRCm39) probably benign Het
Rpf1 A G 3: 146,212,299 (GRCm39) F347S probably damaging Het
Rrp12 A T 19: 41,859,247 (GRCm39) probably null Het
Ryr1 A T 7: 28,771,349 (GRCm39) L2557Q probably null Het
Slc1a7 T C 4: 107,867,497 (GRCm39) probably benign Het
Slc35e2 T A 4: 155,696,171 (GRCm39) M186K possibly damaging Het
Slc49a4 T C 16: 35,550,676 (GRCm39) T308A probably benign Het
Snx6 G T 12: 54,817,549 (GRCm39) S116* probably null Het
Sptan1 T C 2: 29,884,379 (GRCm39) probably null Het
Sucla2 T A 14: 73,830,109 (GRCm39) M382K probably damaging Het
Tmem260 G A 14: 48,724,258 (GRCm39) A369T possibly damaging Het
Tmprss6 A G 15: 78,336,722 (GRCm39) Y393H probably damaging Het
Tnrc6c A T 11: 117,613,345 (GRCm39) Q501L probably damaging Het
Trim17 A G 11: 58,856,369 (GRCm39) Y142C probably damaging Het
Trim65 T C 11: 116,019,108 (GRCm39) R144G probably damaging Het
Trpm1 A G 7: 63,873,547 (GRCm39) T601A probably benign Het
Ttn A T 2: 76,564,688 (GRCm39) V28483E probably damaging Het
Ube2l3 T C 16: 17,019,340 (GRCm39) probably null Het
Ube2l3 G T 16: 17,019,336 (GRCm39) probably benign Het
Yme1l1 T C 2: 23,085,318 (GRCm39) probably benign Het
Zfat A G 15: 68,051,806 (GRCm39) S663P probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Susd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Susd5 APN 9 113,897,947 (GRCm39) splice site probably benign
IGL01720:Susd5 APN 9 113,893,052 (GRCm39) missense possibly damaging 0.85
IGL02739:Susd5 APN 9 113,925,101 (GRCm39) missense possibly damaging 0.72
H8441:Susd5 UTSW 9 113,925,253 (GRCm39) nonsense probably null
R0238:Susd5 UTSW 9 113,925,977 (GRCm39) makesense probably null
R0238:Susd5 UTSW 9 113,925,977 (GRCm39) makesense probably null
R0650:Susd5 UTSW 9 113,911,603 (GRCm39) missense possibly damaging 0.53
R0666:Susd5 UTSW 9 113,924,852 (GRCm39) missense possibly damaging 0.53
R1478:Susd5 UTSW 9 113,925,752 (GRCm39) missense probably benign
R1672:Susd5 UTSW 9 113,897,890 (GRCm39) missense probably damaging 0.99
R3416:Susd5 UTSW 9 113,924,726 (GRCm39) missense possibly damaging 0.85
R3965:Susd5 UTSW 9 113,925,260 (GRCm39) missense possibly damaging 0.72
R4182:Susd5 UTSW 9 113,925,053 (GRCm39) missense probably benign 0.12
R4514:Susd5 UTSW 9 113,924,992 (GRCm39) missense probably benign 0.18
R5373:Susd5 UTSW 9 113,911,653 (GRCm39) missense probably damaging 1.00
R6189:Susd5 UTSW 9 113,924,726 (GRCm39) missense probably damaging 0.98
R6349:Susd5 UTSW 9 113,924,870 (GRCm39) missense probably benign 0.33
R7535:Susd5 UTSW 9 113,893,108 (GRCm39) missense possibly damaging 0.92
R8973:Susd5 UTSW 9 113,911,572 (GRCm39) missense possibly damaging 0.86
R9143:Susd5 UTSW 9 113,924,879 (GRCm39) missense possibly damaging 0.86
R9145:Susd5 UTSW 9 113,925,289 (GRCm39) missense probably damaging 1.00
Z1176:Susd5 UTSW 9 113,925,208 (GRCm39) missense probably damaging 0.98
Z1177:Susd5 UTSW 9 113,893,135 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AAGCTTCTGTCTATAAGCCTGC -3'
(R):5'- TAGACGTGACTCTGGAGCTCTC -3'

Sequencing Primer
(F):5'- TGTCTATAAGCCTGCGCCCAG -3'
(R):5'- AGCTCTCTCCGGGGAAG -3'
Posted On 2018-02-13