Incidental Mutation 'IGL01720:Susd5'
ID105057
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Susd5
Ensembl Gene ENSMUSG00000086596
Gene Namesushi domain containing 5
SynonymsLOC382111
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL01720
Quality Score
Status
Chromosome9
Chromosomal Location114057140-114098728 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 114063984 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 43 (N43K)
Ref Sequence ENSEMBL: ENSMUSP00000128826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000135338]
Predicted Effect possibly damaging
Transcript: ENSMUST00000135338
AA Change: N43K

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000128826
Gene: ENSMUSG00000086596
AA Change: N43K

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
Apc2 T C 10: 80,314,499 S1796P probably benign Het
Asxl3 A T 18: 22,525,325 I2131F probably damaging Het
Cdc42bpa T A 1: 180,111,282 D833E probably damaging Het
Cenpc1 A G 5: 86,045,425 S202P possibly damaging Het
Cenpf T C 1: 189,682,386 E178G probably benign Het
Cenpf T C 1: 189,651,215 Y2636C probably damaging Het
Chkb C T 15: 89,427,952 probably null Het
Cldn20 A G 17: 3,533,100 T183A probably benign Het
Cpne8 C T 15: 90,501,500 V442I probably benign Het
Cx3cl1 T A 8: 94,778,073 M39K probably damaging Het
Dgkd T A 1: 87,936,765 L124Q probably damaging Het
Fam180a T C 6: 35,313,565 H161R probably benign Het
Galt C A 4: 41,757,463 R212S probably damaging Het
Gja10 T C 4: 32,601,007 D459G probably benign Het
Glb1 T C 9: 114,420,505 probably null Het
Gm13089 T A 4: 143,696,840 probably benign Het
Gm4981 A C 10: 58,236,389 M1R probably null Het
Gm5709 A T 3: 59,606,554 noncoding transcript Het
Igf2r A G 17: 12,701,313 Y1380H probably damaging Het
Jag1 C T 2: 137,087,103 G811D probably damaging Het
Lrguk T C 6: 34,043,477 F52S probably damaging Het
Lrrc15 A T 16: 30,273,320 N400K probably benign Het
Map3k12 A G 15: 102,502,186 probably benign Het
Mbnl2 C T 14: 120,325,270 T11I probably damaging Het
Mettl22 T C 16: 8,484,253 probably benign Het
Mgat4a G A 1: 37,444,898 A497V probably damaging Het
Mrpl49 C A 19: 6,055,157 M91I possibly damaging Het
Olfr450 G A 6: 42,817,593 V41I probably benign Het
Olfr700 A T 7: 106,806,209 D84E probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Ppp1r13b T C 12: 111,858,260 T102A probably benign Het
Prodh2 A G 7: 30,511,203 D393G probably damaging Het
Pyroxd1 A G 6: 142,351,058 probably benign Het
Rad17 A T 13: 100,622,858 C554S possibly damaging Het
Rapgef5 T C 12: 117,613,435 probably benign Het
Setdb2 A G 14: 59,423,436 V86A possibly damaging Het
Slc38a2 A T 15: 96,691,211 probably benign Het
Slc9c1 A G 16: 45,555,769 Y406C probably damaging Het
Slit1 T C 19: 41,634,214 D702G probably benign Het
Stat3 T C 11: 100,903,658 H275R possibly damaging Het
Ttc3 A T 16: 94,385,369 K124N probably damaging Het
Usp36 C A 11: 118,275,002 R165L probably damaging Het
Vwf G A 6: 125,642,835 R1492Q possibly damaging Het
Wdr66 A G 5: 123,322,494 D1173G probably benign Het
Zbed6 A G 1: 133,657,526 V691A possibly damaging Het
Other mutations in Susd5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Susd5 APN 9 114068879 splice site probably benign
IGL02739:Susd5 APN 9 114096033 missense possibly damaging 0.72
H8441:Susd5 UTSW 9 114096185 nonsense probably null
R0238:Susd5 UTSW 9 114096909 makesense probably null
R0238:Susd5 UTSW 9 114096909 makesense probably null
R0650:Susd5 UTSW 9 114082535 missense possibly damaging 0.53
R0666:Susd5 UTSW 9 114095784 missense possibly damaging 0.53
R1478:Susd5 UTSW 9 114096684 missense probably benign
R1672:Susd5 UTSW 9 114068822 missense probably damaging 0.99
R3416:Susd5 UTSW 9 114095658 missense possibly damaging 0.85
R3965:Susd5 UTSW 9 114096192 missense possibly damaging 0.72
R4182:Susd5 UTSW 9 114095985 missense probably benign 0.12
R4514:Susd5 UTSW 9 114095924 missense probably benign 0.18
R5373:Susd5 UTSW 9 114082585 missense probably damaging 1.00
R5947:Susd5 UTSW 9 114057591 missense possibly damaging 0.96
R6189:Susd5 UTSW 9 114095658 missense probably damaging 0.98
R6349:Susd5 UTSW 9 114095802 missense probably benign 0.33
R7535:Susd5 UTSW 9 114064040 missense possibly damaging 0.92
Z1176:Susd5 UTSW 9 114096140 missense probably damaging 0.98
Z1177:Susd5 UTSW 9 114064067 frame shift probably null
Posted On2014-01-21