Incidental Mutation 'IGL02134:Iqcc'
ID281220
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Iqcc
Ensembl Gene ENSMUSG00000040795
Gene NameIQ motif containing C
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.149) question?
Stock #IGL02134
Quality Score
Status
Chromosome4
Chromosomal Location129615126-129619099 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 129619025 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 11 (S11P)
Ref Sequence ENSEMBL: ENSMUSP00000040584 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030586] [ENSMUST00000046675] [ENSMUST00000106035] [ENSMUST00000106037] [ENSMUST00000121442] [ENSMUST00000137090] [ENSMUST00000150357] [ENSMUST00000174073] [ENSMUST00000179209] [ENSMUST00000151838]
Predicted Effect probably benign
Transcript: ENSMUST00000030586
SMART Domains Protein: ENSMUSP00000030586
Gene: ENSMUSG00000028795

DomainStartEndE-ValueType
low complexity region 66 74 N/A INTRINSIC
Pfam:DUF4061 85 185 4.3e-45 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000046675
AA Change: S11P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040584
Gene: ENSMUSG00000040795
AA Change: S11P

DomainStartEndE-ValueType
IQ 5 27 6.6e-2 SMART
low complexity region 150 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106035
SMART Domains Protein: ENSMUSP00000101652
Gene: ENSMUSG00000028795

DomainStartEndE-ValueType
low complexity region 66 74 N/A INTRINSIC
Pfam:DUF4061 86 178 2.2e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106037
SMART Domains Protein: ENSMUSP00000101653
Gene: ENSMUSG00000078552

DomainStartEndE-ValueType
DCX 1 85 7.69e-26 SMART
DCX 118 205 6.22e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000121442
AA Change: S11P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000113036
Gene: ENSMUSG00000040795
AA Change: S11P

DomainStartEndE-ValueType
IQ 5 27 6.6e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131559
Predicted Effect probably benign
Transcript: ENSMUST00000137090
SMART Domains Protein: ENSMUSP00000117568
Gene: ENSMUSG00000028797

DomainStartEndE-ValueType
Pfam:UPF0546 11 62 1.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146378
Predicted Effect probably benign
Transcript: ENSMUST00000150357
SMART Domains Protein: ENSMUSP00000118241
Gene: ENSMUSG00000028795

DomainStartEndE-ValueType
low complexity region 66 74 N/A INTRINSIC
Pfam:DUF4061 85 104 7e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152290
Predicted Effect probably benign
Transcript: ENSMUST00000174073
SMART Domains Protein: ENSMUSP00000133325
Gene: ENSMUSG00000028797

DomainStartEndE-ValueType
Pfam:UPF0546 11 62 1.1e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179209
SMART Domains Protein: ENSMUSP00000135913
Gene: ENSMUSG00000078552

DomainStartEndE-ValueType
DCX 1 86 1.32e-24 SMART
DCX 91 178 1.1e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151838
SMART Domains Protein: ENSMUSP00000122229
Gene: ENSMUSG00000028795

DomainStartEndE-ValueType
low complexity region 66 74 N/A INTRINSIC
Pfam:DUF4061 85 120 1.1e-13 PFAM
low complexity region 132 147 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 T C 17: 42,669,690 N168S probably damaging Het
Angptl3 A T 4: 99,031,112 R36S probably damaging Het
Ap5z1 T C 5: 142,474,459 F514L probably benign Het
Arhgef39 C A 4: 43,497,578 probably null Het
Aste1 A G 9: 105,397,844 S11G probably damaging Het
Cadm4 T C 7: 24,499,561 V87A probably benign Het
Cd177 A G 7: 24,752,352 I413T probably benign Het
Col5a2 A G 1: 45,391,070 probably null Het
Dera C T 6: 137,830,271 A239V probably damaging Het
Ecm1 T C 3: 95,736,187 E283G probably damaging Het
Eml6 G T 11: 29,759,066 H24N probably benign Het
Etl4 A G 2: 20,806,429 K1425E possibly damaging Het
Fgd3 G A 13: 49,296,749 S8L possibly damaging Het
Gli1 T C 10: 127,336,500 E228G probably benign Het
Hivep3 A G 4: 120,133,574 probably benign Het
Itpkc G A 7: 27,227,875 Q205* probably null Het
Jmjd1c T A 10: 67,220,392 S530R possibly damaging Het
Kcnq1 A G 7: 143,183,716 H257R possibly damaging Het
Kcnt2 G A 1: 140,376,383 V164I probably benign Het
Lgr5 T C 10: 115,452,858 H603R possibly damaging Het
Lrp2 T C 2: 69,513,379 probably null Het
Lrrn2 A G 1: 132,937,817 M207V possibly damaging Het
Miip A G 4: 147,865,278 probably benign Het
Mrps35 T C 6: 147,048,310 probably benign Het
Nuf2 A T 1: 169,513,500 M184K probably benign Het
Olfr113 C T 17: 37,575,358 E22K probably benign Het
Olfr1234 A T 2: 89,362,828 N200K probably damaging Het
Olfr1494 C A 19: 13,749,801 R232S probably benign Het
Olfr452 A G 6: 42,790,464 T142A probably benign Het
Olfr951 A T 9: 39,394,534 I248F probably damaging Het
Os9 T C 10: 127,120,992 I42V possibly damaging Het
Rapgef4 A C 2: 72,180,061 Q177P probably damaging Het
Rhpn2 T C 7: 35,371,111 probably benign Het
Scn5a T C 9: 119,485,892 R1916G probably damaging Het
Serpine1 T A 5: 137,067,035 probably benign Het
Snd1 C T 6: 28,880,279 P684L possibly damaging Het
Tgds T C 14: 118,113,122 N340D probably benign Het
Trpc4 A T 3: 54,315,654 Y706F possibly damaging Het
Ttn T A 2: 76,753,822 D22314V probably damaging Het
Utrn G A 10: 12,643,419 T2263I probably damaging Het
Vmn1r11 A T 6: 57,138,037 T229S possibly damaging Het
Zfp142 T G 1: 74,569,863 H1488P probably damaging Het
Zfp219 A G 14: 52,009,301 L78P probably damaging Het
Zfp629 T A 7: 127,611,870 T256S probably benign Het
Other mutations in Iqcc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01991:Iqcc APN 4 129617789 missense probably benign 0.08
IGL02420:Iqcc APN 4 129616955 missense probably benign 0.00
FR4976:Iqcc UTSW 4 129616676 unclassified probably benign
R0131:Iqcc UTSW 4 129616599 missense probably damaging 1.00
R0131:Iqcc UTSW 4 129616599 missense probably damaging 1.00
R0132:Iqcc UTSW 4 129616599 missense probably damaging 1.00
R1520:Iqcc UTSW 4 129616969 missense possibly damaging 0.90
R5043:Iqcc UTSW 4 129618277 unclassified probably benign
R5389:Iqcc UTSW 4 129618620 missense probably benign 0.32
R5645:Iqcc UTSW 4 129616527 missense possibly damaging 0.64
R6242:Iqcc UTSW 4 129616846 missense probably damaging 0.99
R7335:Iqcc UTSW 4 129616708 missense not run
Posted On2015-04-16