Incidental Mutation 'IGL01152:Igdcc4'
ID52022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Igdcc4
Ensembl Gene ENSMUSG00000032816
Gene Nameimmunoglobulin superfamily, DCC subclass, member 4
SynonymsWI-18508, WI-16786, Nope, 9330155G14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.217) question?
Stock #IGL01152
Quality Score
Status
Chromosome9
Chromosomal Location65101486-65137940 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 65135164 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Alanine at position 121 (E121A)
Ref Sequence ENSEMBL: ENSMUSP00000132576 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035499] [ENSMUST00000077696] [ENSMUST00000166273] [ENSMUST00000213533]
Predicted Effect probably damaging
Transcript: ENSMUST00000035499
AA Change: E1133A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: E1133A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 40 139 5e0 SMART
IGc2 154 218 1.3e-11 SMART
IGc2 255 318 1.13e-11 SMART
low complexity region 322 335 N/A INTRINSIC
IGc2 346 411 1.34e-13 SMART
FN3 428 511 3.58e-12 SMART
FN3 526 610 9.54e-8 SMART
FN3 630 726 7.34e-9 SMART
FN3 750 832 1.05e-9 SMART
FN3 848 932 2.14e-10 SMART
low complexity region 958 978 N/A INTRINSIC
low complexity region 1085 1100 N/A INTRINSIC
low complexity region 1154 1168 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000077696
AA Change: E1179A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: E1179A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 40 139 5e0 SMART
IGc2 154 218 1.3e-11 SMART
IGc2 255 458 7.02e-8 SMART
FN3 475 558 3.58e-12 SMART
FN3 573 656 1.1e-7 SMART
FN3 676 772 7.34e-9 SMART
FN3 796 878 1.05e-9 SMART
FN3 894 978 2.14e-10 SMART
low complexity region 1004 1024 N/A INTRINSIC
low complexity region 1131 1146 N/A INTRINSIC
low complexity region 1200 1214 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166273
AA Change: E121A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132576
Gene: ENSMUSG00000032816
AA Change: E121A

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Blast:IG 40 83 3e-22 BLAST
low complexity region 142 156 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000213533
AA Change: E1132A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214978
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A T 9: 22,435,164 H356L probably benign Het
A730013G03Rik T G 1: 192,833,639 noncoding transcript Het
Abcb4 G A 5: 8,950,678 V1031M probably benign Het
Abcc4 A G 14: 118,599,385 S655P probably damaging Het
Actn1 T C 12: 80,199,046 K121R probably damaging Het
Aldh1l2 T A 10: 83,522,886 R82* probably null Het
Arhgap31 T A 16: 38,602,239 H1155L possibly damaging Het
Atp8a1 G T 5: 67,847,206 P2Q probably damaging Het
Bcs1l A G 1: 74,592,015 M401V possibly damaging Het
Brca2 A T 5: 150,542,390 N1873I probably damaging Het
Cenpj T C 14: 56,552,300 N764S probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Clk1 A T 1: 58,413,452 C359S possibly damaging Het
Clk2 T A 3: 89,176,511 F479I probably damaging Het
Cul4b T C X: 38,543,370 M709V probably damaging Het
D130052B06Rik G T 11: 33,623,620 probably null Het
Dgkb T A 12: 38,084,234 N46K probably damaging Het
Dnah9 C T 11: 66,072,056 R1811H probably damaging Het
Dnajc18 T C 18: 35,680,873 N281S probably benign Het
Galnt5 A T 2: 58,025,393 I654L probably benign Het
Gm9989 T G 3: 81,922,211 noncoding transcript Het
Gpr179 T C 11: 97,337,411 E1306G probably benign Het
Gsc C A 12: 104,471,605 K219N probably damaging Het
Gsx2 A T 5: 75,075,791 I11F probably damaging Het
Lama2 C T 10: 27,208,429 R915H probably benign Het
Large2 A G 2: 92,370,639 L64P probably damaging Het
Lztr1 C A 16: 17,522,453 Q136K probably damaging Het
Mageb18 A G X: 92,119,824 W271R possibly damaging Het
Magoh A C 4: 107,885,006 probably benign Het
Mrgprx1 T C 7: 48,021,486 H171R probably benign Het
Muc1 C A 3: 89,230,754 T301K probably benign Het
Nbas C T 12: 13,360,958 L868F probably damaging Het
Nwd2 A G 5: 63,806,529 D1152G possibly damaging Het
Olfr493 C T 7: 108,346,949 A11T probably benign Het
Olfr77 G A 9: 19,920,949 V247M possibly damaging Het
Ovgp1 T A 3: 105,986,172 D420E possibly damaging Het
Pacsin3 A G 2: 91,263,776 D350G probably benign Het
Pcolce2 A T 9: 95,692,923 N309Y probably damaging Het
Pim2 C A X: 7,878,422 probably benign Het
Plcb1 A G 2: 134,813,659 Y53C probably damaging Het
Pogk T C 1: 166,408,478 E18G probably damaging Het
Pxdn T A 12: 30,001,937 D704E probably damaging Het
Rb1 C A 14: 73,205,870 S781I probably damaging Het
Rnpepl1 A G 1: 92,915,899 H247R possibly damaging Het
Scube1 A T 15: 83,613,570 F697I probably damaging Het
Sel1l3 G T 5: 53,116,333 H1064N probably damaging Het
Serinc3 A G 2: 163,636,911 Y99H probably damaging Het
Slc36a2 T A 11: 55,169,847 probably benign Het
Smarcc1 A C 9: 110,139,625 E130A possibly damaging Het
Strc A G 2: 121,370,795 M1273T probably benign Het
Tmem116 A G 5: 121,463,799 I21V probably benign Het
Tmem190 T C 7: 4,784,026 probably benign Het
Trim63 C T 4: 134,325,676 A316V probably benign Het
Ugt2b34 T C 5: 86,901,203 E321G probably damaging Het
Zfat T A 15: 68,110,504 R1053S probably damaging Het
Other mutations in Igdcc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Igdcc4 APN 9 65123991 missense probably damaging 1.00
IGL01412:Igdcc4 APN 9 65114449 splice site probably benign
IGL01485:Igdcc4 APN 9 65122607 missense probably benign 0.02
IGL01552:Igdcc4 APN 9 65122502 intron probably benign
IGL01651:Igdcc4 APN 9 65124112 missense possibly damaging 0.63
IGL01751:Igdcc4 APN 9 65131732 missense probably damaging 1.00
IGL02164:Igdcc4 APN 9 65124782 splice site probably benign
IGL02468:Igdcc4 APN 9 65126832 missense probably damaging 1.00
IGL02616:Igdcc4 APN 9 65133078 missense probably damaging 1.00
IGL02685:Igdcc4 APN 9 65133825 missense possibly damaging 0.81
IGL02734:Igdcc4 APN 9 65131456 missense possibly damaging 0.47
IGL02893:Igdcc4 APN 9 65133071 missense probably damaging 1.00
R0006:Igdcc4 UTSW 9 65135100 splice site probably benign
R0583:Igdcc4 UTSW 9 65121813 missense possibly damaging 0.85
R0939:Igdcc4 UTSW 9 65131473 critical splice donor site probably null
R1075:Igdcc4 UTSW 9 65131650 missense possibly damaging 0.90
R1110:Igdcc4 UTSW 9 65126926 missense possibly damaging 0.91
R1183:Igdcc4 UTSW 9 65121900 missense possibly damaging 0.91
R1318:Igdcc4 UTSW 9 65133690 missense probably damaging 1.00
R1507:Igdcc4 UTSW 9 65133744 missense probably damaging 1.00
R1548:Igdcc4 UTSW 9 65135227 missense probably benign 0.08
R1640:Igdcc4 UTSW 9 65122795 missense probably damaging 1.00
R1681:Igdcc4 UTSW 9 65128795 missense probably damaging 1.00
R1687:Igdcc4 UTSW 9 65131663 missense probably damaging 1.00
R1716:Igdcc4 UTSW 9 65126897 missense probably damaging 1.00
R1964:Igdcc4 UTSW 9 65122769 missense probably benign
R1996:Igdcc4 UTSW 9 65121819 missense probably damaging 1.00
R2150:Igdcc4 UTSW 9 65125335 missense possibly damaging 0.92
R2278:Igdcc4 UTSW 9 65130743 missense probably damaging 1.00
R3085:Igdcc4 UTSW 9 65132058 missense probably damaging 1.00
R4011:Igdcc4 UTSW 9 65135479 missense probably benign
R4077:Igdcc4 UTSW 9 65131765 missense probably damaging 1.00
R4191:Igdcc4 UTSW 9 65124151 missense probably benign 0.13
R4293:Igdcc4 UTSW 9 65124610 critical splice acceptor site probably null
R4589:Igdcc4 UTSW 9 65130628 missense probably damaging 1.00
R4931:Igdcc4 UTSW 9 65124015 missense possibly damaging 0.66
R5093:Igdcc4 UTSW 9 65122757 missense possibly damaging 0.51
R5106:Igdcc4 UTSW 9 65124701 missense probably damaging 1.00
R5546:Igdcc4 UTSW 9 65128795 missense probably damaging 1.00
R5634:Igdcc4 UTSW 9 65134546 missense probably benign 0.18
R5810:Igdcc4 UTSW 9 65128695 missense probably damaging 1.00
R6395:Igdcc4 UTSW 9 65135118 missense probably damaging 1.00
R6475:Igdcc4 UTSW 9 65120321 missense probably damaging 1.00
R6776:Igdcc4 UTSW 9 65135418 missense probably benign 0.02
R6828:Igdcc4 UTSW 9 65122697 missense probably benign
R6914:Igdcc4 UTSW 9 65120268 missense probably benign 0.00
R6942:Igdcc4 UTSW 9 65120268 missense probably benign 0.00
R7072:Igdcc4 UTSW 9 65130731 missense probably damaging 1.00
R7234:Igdcc4 UTSW 9 65135468 nonsense probably null
R7448:Igdcc4 UTSW 9 65123994 missense possibly damaging 0.52
R7562:Igdcc4 UTSW 9 65124024 missense probably damaging 1.00
R7607:Igdcc4 UTSW 9 65133758 missense possibly damaging 0.85
R7734:Igdcc4 UTSW 9 65131753 missense probably damaging 0.99
R7807:Igdcc4 UTSW 9 65133795 missense probably benign 0.00
R7852:Igdcc4 UTSW 9 65120258 missense probably benign 0.04
R7904:Igdcc4 UTSW 9 65134519 missense probably benign 0.00
R8133:Igdcc4 UTSW 9 65131741 missense possibly damaging 0.54
R8147:Igdcc4 UTSW 9 65123971 missense probably benign 0.42
R8230:Igdcc4 UTSW 9 65122738 missense probably damaging 1.00
R8822:Igdcc4 UTSW 9 65124016 missense possibly damaging 0.50
R8846:Igdcc4 UTSW 9 65130616 missense probably benign 0.12
Posted On2013-06-21