Incidental Mutation 'R1885:Gipc3'
ID209462
Institutional Source Beutler Lab
Gene Symbol Gipc3
Ensembl Gene ENSMUSG00000034872
Gene NameGIPC PDZ domain containing family, member 3
SynonymsAhl5, Gipc3, Rgs19ip3
MMRRC Submission 039906-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.220) question?
Stock #R1885 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location81335265-81343266 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 81341347 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 130 (I130V)
Ref Sequence ENSEMBL: ENSMUSP00000049236 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020454] [ENSMUST00000045102] [ENSMUST00000105323] [ENSMUST00000105324] [ENSMUST00000122993] [ENSMUST00000167481]
Predicted Effect probably benign
Transcript: ENSMUST00000020454
SMART Domains Protein: ENSMUSP00000020454
Gene: ENSMUSG00000020232

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
low complexity region 52 64 N/A INTRINSIC
HMG 69 139 8.68e-22 SMART
coiled coil region 190 257 N/A INTRINSIC
low complexity region 266 280 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000045102
AA Change: I130V

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000049236
Gene: ENSMUSG00000034872
AA Change: I130V

DomainStartEndE-ValueType
low complexity region 94 104 N/A INTRINSIC
PDZ 105 179 1.19e-7 SMART
low complexity region 224 237 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105323
SMART Domains Protein: ENSMUSP00000100960
Gene: ENSMUSG00000020232

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
low complexity region 52 64 N/A INTRINSIC
HMG 69 139 8.68e-22 SMART
coiled coil region 190 257 N/A INTRINSIC
low complexity region 266 280 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105324
SMART Domains Protein: ENSMUSP00000100961
Gene: ENSMUSG00000020232

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
low complexity region 52 64 N/A INTRINSIC
HMG 69 139 8.68e-22 SMART
coiled coil region 190 257 N/A INTRINSIC
low complexity region 266 280 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000122993
SMART Domains Protein: ENSMUSP00000137861
Gene: ENSMUSG00000020232

DomainStartEndE-ValueType
Pfam:HMG_box 1 36 1.2e-7 PFAM
coiled coil region 88 155 N/A INTRINSIC
low complexity region 164 178 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132313
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134857
Predicted Effect probably benign
Transcript: ENSMUST00000167481
SMART Domains Protein: ENSMUSP00000128807
Gene: ENSMUSG00000020232

DomainStartEndE-ValueType
low complexity region 4 22 N/A INTRINSIC
low complexity region 52 64 N/A INTRINSIC
HMG 69 139 8.68e-22 SMART
coiled coil region 190 257 N/A INTRINSIC
low complexity region 266 280 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.0%
  • 3x: 96.1%
  • 10x: 92.7%
  • 20x: 85.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the GIPC family. Studies in mice suggest that this gene is required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion in the ear. Mutations in this gene are associated with autosomal recessive deafness. [provided by RefSeq, Dec 2011]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik T A 9: 108,393,610 D124E possibly damaging Het
Aarsd1 T C 11: 101,411,401 T278A probably benign Het
Acox2 C T 14: 8,248,102 M393I probably benign Het
Adcy10 A G 1: 165,570,808 I1491M probably benign Het
Adcy3 T A 12: 4,134,951 V209E probably damaging Het
Adora3 A C 3: 105,904,836 N13H possibly damaging Het
Ap2b1 T A 11: 83,390,735 N822K probably damaging Het
Apobec3 A T 15: 79,897,705 H82L probably damaging Het
Atg9b A T 5: 24,388,254 W384R probably damaging Het
Atp8a1 A G 5: 67,747,318 V506A possibly damaging Het
Atxn1 G T 13: 45,567,804 A205D probably benign Het
AU022751 GTCATCATCATCATC GTCATCATCATCATCATC X: 6,082,591 probably benign Het
B4galnt3 T C 6: 120,223,640 E223G probably damaging Het
Brip1 C A 11: 86,138,815 G631V probably damaging Het
C530008M17Rik A G 5: 76,856,742 T317A unknown Het
Cacna1i A G 15: 80,358,944 E434G probably damaging Het
Caprin2 A T 6: 148,877,885 probably null Het
Ccdc80 A C 16: 45,096,720 D613A probably benign Het
Ccdc81 T C 7: 89,866,611 E620G possibly damaging Het
Cebpz A T 17: 78,932,116 D625E probably benign Het
Coq6 C A 12: 84,372,464 N388K probably damaging Het
D430041D05Rik T C 2: 104,230,455 M1365V probably benign Het
Dab1 C T 4: 104,731,751 A524V probably benign Het
Dap3 A G 3: 88,930,974 L86P probably damaging Het
Dpysl4 T G 7: 139,096,807 V391G probably damaging Het
Dyrk4 G T 6: 126,877,181 Q550K probably benign Het
Epas1 A G 17: 86,805,295 D107G probably damaging Het
Esrp2 A G 8: 106,131,821 V636A possibly damaging Het
Etl4 T A 2: 20,743,984 Y176N probably damaging Het
Etnppl T C 3: 130,629,462 V264A probably benign Het
Fer T A 17: 64,138,914 V790D probably damaging Het
Gdpd5 G A 7: 99,459,997 V575I probably benign Het
Gif G A 19: 11,752,324 A216T probably benign Het
Gm281 A C 14: 13,828,607 Y718D probably damaging Het
Iqsec3 G A 6: 121,428,367 probably benign Het
Kdm5d G T Y: 940,781 probably null Het
Kl A G 5: 150,953,494 R260G possibly damaging Het
Kras T C 6: 145,232,117 E143G probably damaging Het
Ksr1 C A 11: 79,020,378 V11F probably null Het
Ksr1 T C 11: 79,036,521 T329A probably damaging Het
March6 A G 15: 31,502,806 V83A probably benign Het
Mettl2 T C 11: 105,131,620 I212T possibly damaging Het
Mgat3 A G 15: 80,211,619 I216V probably benign Het
Mkrn3 G A 7: 62,418,738 A435V probably benign Het
Mlh1 C A 9: 111,258,556 S24I probably benign Het
Mmel1 G A 4: 154,890,876 R424Q possibly damaging Het
Mob3a G A 10: 80,691,234 Q86* probably null Het
Myh3 A G 11: 67,086,627 K368E probably benign Het
Myo16 T A 8: 10,322,656 N118K probably damaging Het
Myo5c A G 9: 75,249,761 S160G probably damaging Het
Nat1 A T 8: 67,491,001 I13F probably damaging Het
Ncoa7 T C 10: 30,648,452 N823S possibly damaging Het
Nwd1 T C 8: 72,704,994 S1207P probably benign Het
Olfr1299 G T 2: 111,664,754 S176I probably damaging Het
Olfr1390 T C 11: 49,340,835 L101P probably damaging Het
Olfr153 T C 2: 87,532,824 S264P probably damaging Het
Olfr480 T C 7: 108,066,778 N7D probably benign Het
Paqr8 A T 1: 20,935,480 H286L probably damaging Het
Pdzd4 G A X: 73,795,446 R419C probably damaging Het
Pes1 A G 11: 3,969,482 K52E probably damaging Het
Ppp1r13l T C 7: 19,377,571 S774P probably damaging Het
Robo2 T C 16: 73,916,145 D1283G probably benign Het
Rp1l1 T C 14: 64,028,390 V475A probably benign Het
Scml4 A G 10: 42,912,227 Y51C probably damaging Het
Slc2a4 C T 11: 69,945,007 V339I probably benign Het
Slc39a6 G A 18: 24,601,482 probably null Het
Slco1b2 A T 6: 141,683,225 Y551F probably damaging Het
Snx33 T C 9: 56,925,837 H316R probably benign Het
Spata31d1a T G 13: 59,702,007 D769A probably damaging Het
Stmn2 A T 3: 8,541,904 E28V probably damaging Het
Syt9 A G 7: 107,436,529 D251G probably damaging Het
Tjap1 T C 17: 46,262,421 T37A probably damaging Het
Tmc7 A T 7: 118,561,087 F176I possibly damaging Het
Tprg A G 16: 25,412,891 T206A probably benign Het
Tsta3 G T 15: 75,926,989 T123N possibly damaging Het
Ttc37 A T 13: 76,113,047 R112S probably benign Het
Ttc37 A G 13: 76,130,235 Q556R probably benign Het
Ubqlnl A T 7: 104,150,065 M75K possibly damaging Het
Vmn2r115 ATCTTCT ATCT 17: 23,359,988 probably benign Het
Vmn2r12 C T 5: 109,092,076 G207E probably damaging Het
Xrn2 T G 2: 147,049,361 L697* probably null Het
Zfp764 A G 7: 127,405,039 F307L probably benign Het
Zfp804b T C 5: 6,770,376 R860G probably damaging Het
Zranb2 A T 3: 157,543,156 probably null Het
Other mutations in Gipc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02057:Gipc3 APN 10 81343134 missense probably damaging 1.00
R1848:Gipc3 UTSW 10 81341265 missense probably damaging 1.00
R1921:Gipc3 UTSW 10 81338215 missense probably damaging 0.99
R1922:Gipc3 UTSW 10 81338215 missense probably damaging 0.99
R4722:Gipc3 UTSW 10 81341295 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGGGGCCCATCAATCCTTAC -3'
(R):5'- AGACTTCATCTTTGCACATGTGC -3'

Sequencing Primer
(F):5'- TTACCAAAAGCTCTCCGGGG -3'
(R):5'- AGGATGCTCTAGGACTGACCATC -3'
Posted On2014-06-30