Incidental Mutation 'IGL01622:Gramd1c'
ID278646
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gramd1c
Ensembl Gene ENSMUSG00000036292
Gene NameGRAM domain containing 1C
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01622
Quality Score
Status
Chromosome16
Chromosomal Location43980350-44063345 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43990698 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 221 (V221A)
Ref Sequence ENSEMBL: ENSMUSP00000137426 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036174] [ENSMUST00000114677] [ENSMUST00000179565] [ENSMUST00000214098]
Predicted Effect probably damaging
Transcript: ENSMUST00000036174
AA Change: V221A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036739
Gene: ENSMUSG00000036292
AA Change: V221A

DomainStartEndE-ValueType
Pfam:DUF4782 124 272 6.8e-38 PFAM
low complexity region 304 314 N/A INTRINSIC
transmembrane domain 350 372 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114677
AA Change: V221A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110325
Gene: ENSMUSG00000036292
AA Change: V221A

DomainStartEndE-ValueType
low complexity region 304 314 N/A INTRINSIC
transmembrane domain 350 372 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179565
AA Change: V221A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000137426
Gene: ENSMUSG00000036292
AA Change: V221A

DomainStartEndE-ValueType
low complexity region 304 314 N/A INTRINSIC
transmembrane domain 350 372 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000214098
AA Change: V426A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik G A 14: 35,810,067 Q184* probably null Het
A1bg A C 15: 60,917,893 I502S possibly damaging Het
Actl11 T C 9: 107,928,576 S33P probably benign Het
Aftph G T 11: 20,709,632 D730E probably damaging Het
Arhgap29 A G 3: 121,974,124 probably benign Het
Brf1 T G 12: 112,961,175 E643A probably benign Het
Caskin1 G T 17: 24,503,940 probably null Het
Ccnjl T C 11: 43,585,327 V259A probably benign Het
Ccser2 G T 14: 36,940,963 T88K probably benign Het
Cdk17 T C 10: 93,238,962 probably benign Het
Clec16a G A 16: 10,577,910 S309N possibly damaging Het
Cpxm1 C A 2: 130,391,271 A633S probably benign Het
Ctnnbl1 A T 2: 157,819,548 N326I probably damaging Het
Cyp46a1 T C 12: 108,351,975 V215A possibly damaging Het
Daxx A G 17: 33,913,480 D528G probably benign Het
Dnah6 T C 6: 73,144,718 Y1427C probably damaging Het
Dpy19l3 G A 7: 35,722,744 T228I probably damaging Het
Fam131c C T 4: 141,382,450 A131V possibly damaging Het
Fam71e2 A G 7: 4,758,723 V330A probably benign Het
Fat1 A G 8: 45,029,555 T3061A possibly damaging Het
Fgl2 T A 5: 21,373,177 L154H possibly damaging Het
Fhod3 T A 18: 25,022,867 I514K probably benign Het
Ficd G A 5: 113,738,561 G266S probably damaging Het
Frem3 A G 8: 80,613,915 T946A probably benign Het
Gan T A 8: 117,187,178 V105D probably damaging Het
Hacd1 A G 2: 14,035,856 V196A probably benign Het
Kcna6 C A 6: 126,738,613 V438L probably damaging Het
Kif14 T C 1: 136,497,356 probably benign Het
Klhl41 T C 2: 69,678,238 V512A probably benign Het
Lrfn1 A G 7: 28,466,686 T502A probably damaging Het
Notch3 A T 17: 32,158,870 F105I possibly damaging Het
Olfr1023 A T 2: 85,886,962 H54L probably benign Het
Olfr142 T G 2: 90,252,609 K126N probably damaging Het
P3h1 C T 4: 119,235,283 T171I probably damaging Het
Pcdhb1 A G 18: 37,266,313 E439G possibly damaging Het
Pik3c3 A T 18: 30,290,525 K225* probably null Het
Pik3c3 A G 18: 30,293,049 probably benign Het
Pik3r5 T A 11: 68,486,626 probably null Het
Pnpt1 A C 11: 29,148,272 probably benign Het
Ppp2r1b T A 9: 50,878,122 V495D probably damaging Het
Rbfox3 C A 11: 118,505,614 probably benign Het
Sec14l2 G A 11: 4,103,966 P234S possibly damaging Het
Sec16a A C 2: 26,438,903 D1033E probably benign Het
Sept14 A G 5: 129,685,955 V357A probably damaging Het
Sf3a3 C T 4: 124,718,343 T131I possibly damaging Het
Snrpa A T 7: 27,192,970 M55K probably benign Het
Swt1 G T 1: 151,411,009 T244N probably benign Het
Tbl1xr1 A G 3: 22,192,074 T253A probably benign Het
Tst G T 15: 78,399,764 R288S probably benign Het
Vmn2r60 A G 7: 42,136,486 I238V probably benign Het
Zbtb14 A G 17: 69,388,189 K294R probably benign Het
Zfp710 T A 7: 80,081,123 V16E probably damaging Het
Zfpm2 A G 15: 41,101,924 T602A probably benign Het
Zfr2 G A 10: 81,251,359 M850I probably benign Het
Other mutations in Gramd1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01623:Gramd1c APN 16 43990698 missense probably damaging 1.00
IGL03090:Gramd1c APN 16 43982100 missense probably benign 0.11
IGL03325:Gramd1c APN 16 44005505 missense probably benign 0.03
IGL03047:Gramd1c UTSW 16 43988247 missense probably damaging 1.00
R0173:Gramd1c UTSW 16 43997833 missense possibly damaging 0.95
R1221:Gramd1c UTSW 16 43989864 missense possibly damaging 0.54
R1299:Gramd1c UTSW 16 43983502 unclassified probably benign
R1389:Gramd1c UTSW 16 43990722 missense probably damaging 1.00
R2330:Gramd1c UTSW 16 43983203 missense probably benign 0.00
R3760:Gramd1c UTSW 16 43997791 missense probably damaging 1.00
R4851:Gramd1c UTSW 16 43989837 missense probably damaging 1.00
R5032:Gramd1c UTSW 16 43990663 missense probably damaging 1.00
R5374:Gramd1c UTSW 16 43983241 missense probably benign
R5538:Gramd1c UTSW 16 43982092 missense probably damaging 0.98
R5859:Gramd1c UTSW 16 43992091 missense possibly damaging 0.81
R6600:Gramd1c UTSW 16 44040119 nonsense probably null
R6899:Gramd1c UTSW 16 44040142 missense probably benign 0.01
R7202:Gramd1c UTSW 16 44059221 missense possibly damaging 0.95
R7648:Gramd1c UTSW 16 43989869 missense probably damaging 1.00
R7880:Gramd1c UTSW 16 43992076 missense probably benign 0.16
X0057:Gramd1c UTSW 16 43983217 missense probably damaging 0.99
Posted On2015-04-16