Incidental Mutation 'IGL02227:Ssc5d'
List |< first << previous [record 56 of 67] next >> last >|
ID285640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ssc5d
Ensembl Gene ENSMUSG00000035279
Gene Namescavenger receptor cysteine rich family, 5 domains
Synonymss5d-srcrb, A430110N23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02227
Quality Score
Status
Chromosome7
Chromosomal Location4925785-4944826 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 4933454 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000052126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057612]
Predicted Effect probably null
Transcript: ENSMUST00000057612
SMART Domains Protein: ENSMUSP00000052126
Gene: ENSMUSG00000035279

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
SR 20 120 4.44e-49 SMART
low complexity region 141 155 N/A INTRINSIC
low complexity region 167 182 N/A INTRINSIC
SR 199 299 2.36e-53 SMART
SR 305 405 8.22e-53 SMART
low complexity region 437 462 N/A INTRINSIC
SR 464 565 1.11e-49 SMART
low complexity region 741 755 N/A INTRINSIC
SR 758 858 3.93e-50 SMART
low complexity region 936 957 N/A INTRINSIC
low complexity region 981 1004 N/A INTRINSIC
low complexity region 1018 1035 N/A INTRINSIC
low complexity region 1218 1230 N/A INTRINSIC
low complexity region 1357 1364 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207310
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810043G02Rik A G 10: 77,982,950 N152D possibly damaging Het
Acsl1 A G 8: 46,534,365 E662G probably benign Het
Acss3 A G 10: 107,045,335 S262P probably benign Het
Agap1 T C 1: 89,663,775 V263A probably damaging Het
Ap3b2 A G 7: 81,473,404 L454P probably damaging Het
Arrdc1 A T 2: 24,926,152 F280I possibly damaging Het
Atp8b1 G T 18: 64,562,190 H485N probably benign Het
Atrip A G 9: 109,061,664 S91P possibly damaging Het
Bcorl1 T C X: 48,369,360 V590A probably benign Het
Brf1 C A 12: 112,961,774 R590S probably damaging Het
Ccdc18 A T 5: 108,148,922 D197V possibly damaging Het
Ccr6 T C 17: 8,256,452 V163A probably damaging Het
Cct6b T C 11: 82,741,391 E257G probably damaging Het
Cdc42bpa A G 1: 180,094,424 D564G possibly damaging Het
Cdh2 C T 18: 16,629,586 V434I probably benign Het
Cltc C T 11: 86,697,340 V1610M possibly damaging Het
Cnot4 A G 6: 35,051,263 F473L probably benign Het
Dock3 T C 9: 107,062,055 K165E probably damaging Het
Duox2 A T 2: 122,285,153 probably benign Het
Epha7 A G 4: 28,821,587 S251G possibly damaging Het
Epn1 T A 7: 5,095,036 V282E probably benign Het
Fat1 T C 8: 45,023,659 L1914P probably damaging Het
Fbln2 T C 6: 91,256,367 I611T possibly damaging Het
Fgd6 G T 10: 94,134,084 M1198I probably damaging Het
Frmpd4 T A X: 167,492,935 I379F probably damaging Het
Gm6614 A T 6: 141,993,675 C197* probably null Het
Grk4 T A 5: 34,694,782 D123E probably benign Het
Hc T G 2: 35,009,911 probably benign Het
Hephl1 T C 9: 15,069,793 Y781C probably damaging Het
Hfe T C 13: 23,706,943 E71G probably benign Het
Hk1 A G 10: 62,281,140 probably benign Het
Ifnk G A 4: 35,152,642 probably benign Het
Kcnv1 C A 15: 45,114,274 G123C probably damaging Het
Kdelc2 T C 9: 53,388,479 L96S probably damaging Het
Klhl38 A T 15: 58,323,237 I32N possibly damaging Het
Lpl T C 8: 68,895,800 V227A probably damaging Het
Lurap1l A T 4: 80,953,857 S196C probably damaging Het
Mta1 T C 12: 113,120,908 L91P possibly damaging Het
Nelfe C A 17: 34,854,354 D288E probably benign Het
Olfr491 T A 7: 108,317,201 C102* probably null Het
Otof T C 5: 30,370,784 E1905G probably damaging Het
Pck2 T C 14: 55,543,866 I148T probably benign Het
Plcl2 G T 17: 50,606,397 V145F probably damaging Het
Plec A G 15: 76,172,274 S4510P probably damaging Het
Plxna2 A G 1: 194,752,089 E641G probably damaging Het
Ppp1r12a C T 10: 108,269,324 T434M probably damaging Het
Ppp6r3 A T 19: 3,518,245 N184K possibly damaging Het
Prkar1a G A 11: 109,660,175 probably benign Het
Psmb1 A T 17: 15,490,284 M1K probably null Het
Pwwp2a T C 11: 43,705,621 S538P possibly damaging Het
Rbm25 C T 12: 83,672,753 R516W probably damaging Het
Rnf103 A G 6: 71,510,188 D601G probably benign Het
Senp3 A G 11: 69,674,530 V467A possibly damaging Het
Slc8a3 T G 12: 81,315,683 T121P probably damaging Het
Srrt G A 5: 137,296,274 T790M probably damaging Het
Tas2r129 G A 6: 132,951,394 W98* probably null Het
Thoc5 A C 11: 4,926,217 M609L probably benign Het
Tnip1 G A 11: 54,936,471 T155M possibly damaging Het
Ttn A G 2: 76,788,328 V14458A probably benign Het
Unc5cl A G 17: 48,459,781 E61G probably benign Het
Usp32 T C 11: 84,986,481 K151E probably damaging Het
Vmn2r121 T C X: 124,132,681 M260V probably benign Het
Vwa7 G T 17: 35,020,084 R345L probably damaging Het
Zfp366 G T 13: 99,234,188 R472L possibly damaging Het
Zfp811 A T 17: 32,798,642 Y141* probably null Het
Zpbp C T 11: 11,415,248 E200K probably benign Het
Other mutations in Ssc5d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00325:Ssc5d APN 7 4944481 missense possibly damaging 0.63
IGL00939:Ssc5d APN 7 4936281 missense possibly damaging 0.89
IGL01109:Ssc5d APN 7 4937112 nonsense probably null
IGL01409:Ssc5d APN 7 4942809 missense probably benign 0.16
IGL01880:Ssc5d APN 7 4933219 missense probably damaging 1.00
IGL02013:Ssc5d APN 7 4943836 missense probably benign 0.00
IGL02963:Ssc5d APN 7 4944327 missense probably benign 0.02
D4043:Ssc5d UTSW 7 4943983 missense possibly damaging 0.70
D4216:Ssc5d UTSW 7 4943983 missense possibly damaging 0.70
R0104:Ssc5d UTSW 7 4936286 missense probably benign 0.41
R0115:Ssc5d UTSW 7 4927881 unclassified probably benign
R0201:Ssc5d UTSW 7 4944663 missense probably benign
R0365:Ssc5d UTSW 7 4928467 nonsense probably null
R0485:Ssc5d UTSW 7 4937471 missense probably damaging 0.99
R0967:Ssc5d UTSW 7 4944343 nonsense probably null
R1607:Ssc5d UTSW 7 4944043 missense probably benign 0.25
R1639:Ssc5d UTSW 7 4928417 missense probably damaging 1.00
R1801:Ssc5d UTSW 7 4936607 missense probably benign 0.05
R1867:Ssc5d UTSW 7 4928507 missense probably damaging 1.00
R1999:Ssc5d UTSW 7 4942714 missense possibly damaging 0.86
R2007:Ssc5d UTSW 7 4928629 missense probably damaging 1.00
R2084:Ssc5d UTSW 7 4937012 missense probably benign 0.01
R2234:Ssc5d UTSW 7 4943850 missense probably benign
R2259:Ssc5d UTSW 7 4943916 missense probably benign 0.01
R2567:Ssc5d UTSW 7 4936335 missense probably damaging 1.00
R2879:Ssc5d UTSW 7 4936907 critical splice acceptor site probably null
R3782:Ssc5d UTSW 7 4942791 missense probably benign 0.00
R3875:Ssc5d UTSW 7 4927262 missense probably damaging 1.00
R4322:Ssc5d UTSW 7 4928450 missense probably damaging 1.00
R4331:Ssc5d UTSW 7 4942726 missense probably benign 0.00
R4334:Ssc5d UTSW 7 4943664 missense probably benign
R4430:Ssc5d UTSW 7 4943664 missense probably benign
R4619:Ssc5d UTSW 7 4929525 missense probably damaging 1.00
R4794:Ssc5d UTSW 7 4943745 missense probably benign
R5106:Ssc5d UTSW 7 4936665 missense probably benign 0.31
R5174:Ssc5d UTSW 7 4927971 missense possibly damaging 0.83
R5553:Ssc5d UTSW 7 4936290 missense probably damaging 1.00
R5649:Ssc5d UTSW 7 4926518 critical splice donor site probably null
R5786:Ssc5d UTSW 7 4936818 missense probably benign 0.00
R6059:Ssc5d UTSW 7 4942744 missense possibly damaging 0.86
R6163:Ssc5d UTSW 7 4927254 missense probably damaging 1.00
R6332:Ssc5d UTSW 7 4937522 missense probably damaging 1.00
R6341:Ssc5d UTSW 7 4936665 missense probably benign 0.31
R6613:Ssc5d UTSW 7 4933293 missense possibly damaging 0.82
R7180:Ssc5d UTSW 7 4936601 missense probably benign 0.17
R7576:Ssc5d UTSW 7 4928573 missense probably damaging 1.00
R7602:Ssc5d UTSW 7 4942746 missense possibly damaging 0.95
R7609:Ssc5d UTSW 7 4927576 missense possibly damaging 0.56
R7691:Ssc5d UTSW 7 4944169 missense probably benign 0.29
R7759:Ssc5d UTSW 7 4937530 nonsense probably null
X0063:Ssc5d UTSW 7 4936287 missense probably damaging 1.00
Z1088:Ssc5d UTSW 7 4928434 missense probably damaging 0.99
Posted On2015-04-16