Incidental Mutation 'R1221:Gramd1c'
ID 100145
Institutional Source Beutler Lab
Gene Symbol Gramd1c
Ensembl Gene ENSMUSG00000036292
Gene Name GRAM domain containing 1C
Synonyms 4921521N14Rik
MMRRC Submission 039290-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1221 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 43800713-43883708 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43810227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 454 (T454A)
Ref Sequence ENSEMBL: ENSMUSP00000150056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036174] [ENSMUST00000114677] [ENSMUST00000179565] [ENSMUST00000214098]
AlphaFold Q8CI52
Predicted Effect probably benign
Transcript: ENSMUST00000036174
AA Change: T249A

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000036739
Gene: ENSMUSG00000036292
AA Change: T249A

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 benign
Transcript: ENSMUST00000114677
AA Change: T249A

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000110325
Gene: ENSMUSG00000036292
AA Change: T249A

DomainStartEndE-ValueType
low complexity region 304 314 N/A INTRINSIC
transmembrane domain 350 372 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179565
AA Change: T249A

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000137426
Gene: ENSMUSG00000036292
AA Change: T249A

DomainStartEndE-ValueType
low complexity region 304 314 N/A INTRINSIC
transmembrane domain 350 372 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000214098
AA Change: T454A

PolyPhen 2 Score 0.544 (Sensitivity: 0.88; Specificity: 0.91)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,942,460 (GRCm39) S668P unknown Het
Anks1 A G 17: 28,269,616 (GRCm39) Q770R possibly damaging Het
Apc2 G A 10: 80,142,214 (GRCm39) V378I probably damaging Het
Apeh A G 9: 107,969,808 (GRCm39) V184A probably benign Het
AU018091 A G 7: 3,208,717 (GRCm39) F404S probably damaging Het
Bap1 T C 14: 30,979,608 (GRCm39) L537P probably damaging Het
Bhlha15 A G 5: 144,128,341 (GRCm39) Y151C probably damaging Het
Bmp8b A T 4: 123,008,504 (GRCm39) T157S probably damaging Het
Btbd1 G T 7: 81,468,005 (GRCm39) H172N possibly damaging Het
C1rl A G 6: 124,470,940 (GRCm39) R83G probably benign Het
Cep104 A G 4: 154,072,902 (GRCm39) T387A probably benign Het
Cfi A T 3: 129,666,618 (GRCm39) Q447L probably damaging Het
Cimap1a G T 7: 140,428,296 (GRCm39) W10L probably damaging Het
Coq6 A G 12: 84,418,301 (GRCm39) E295G possibly damaging Het
Dclre1a T C 19: 56,519,700 (GRCm39) T978A possibly damaging Het
Dlc1 T C 8: 37,051,985 (GRCm39) D582G probably benign Het
Dlgap2 A G 8: 14,776,952 (GRCm39) T65A probably benign Het
Dock5 G A 14: 67,996,610 (GRCm39) S1711L probably benign Het
Drc3 A C 11: 60,275,052 (GRCm39) I338L probably benign Het
Dsc1 A T 18: 20,247,599 (GRCm39) C5* probably null Het
F5 A G 1: 163,989,368 (GRCm39) Y90C probably damaging Het
Gdf10 G A 14: 33,654,710 (GRCm39) A406T probably benign Het
Gm136 G T 4: 34,744,127 (GRCm39) A239E possibly damaging Het
Gm4952 A T 19: 12,601,059 (GRCm39) D93V possibly damaging Het
Gstm6 A G 3: 107,848,418 (GRCm39) I58T probably damaging Het
Kdm3b C T 18: 34,941,298 (GRCm39) S263L possibly damaging Het
Kdm5b G C 1: 134,526,829 (GRCm39) S317T probably damaging Het
Myo15b A G 11: 115,777,546 (GRCm39) R71G possibly damaging Het
Nlrp1b G A 11: 71,072,290 (GRCm39) P518S probably benign Het
Nme5 A T 18: 34,704,575 (GRCm39) I90N probably damaging Het
Nrxn1 T A 17: 90,950,722 (GRCm39) T478S probably damaging Het
Or8g22 A C 9: 38,958,483 (GRCm39) D77E probably damaging Het
Osmr G A 15: 6,853,042 (GRCm39) Q617* probably null Het
Pcsk5 T C 19: 17,814,512 (GRCm39) D2G possibly damaging Het
Pdpn G A 4: 143,000,608 (GRCm39) R75C probably damaging Het
Pidd1 A T 7: 141,018,725 (GRCm39) F842Y probably damaging Het
Resf1 T A 6: 149,227,719 (GRCm39) V255E probably benign Het
Sema3a A G 5: 13,566,190 (GRCm39) Q158R probably benign Het
Setbp1 T A 18: 78,899,798 (GRCm39) R1290W probably damaging Het
Slc20a1 G A 2: 129,050,324 (GRCm39) G494D probably benign Het
Spag17 A G 3: 99,889,584 (GRCm39) E151G possibly damaging Het
Stt3b A G 9: 115,086,567 (GRCm39) F351L probably benign Het
Tas1r2 A G 4: 139,396,436 (GRCm39) M592V probably benign Het
Tbcd A G 11: 121,387,909 (GRCm39) T347A probably benign Het
Tmem109 C A 19: 10,851,733 (GRCm39) R37L possibly damaging Het
Tmem67 G A 4: 12,045,871 (GRCm39) S862L possibly damaging Het
Ttn T A 2: 76,781,857 (GRCm39) D1017V probably damaging Het
Zfp646 G A 7: 127,482,292 (GRCm39) G1490S probably benign Het
Zfyve16 T C 13: 92,644,813 (GRCm39) S1130G possibly damaging Het
Other mutations in Gramd1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01622:Gramd1c APN 16 43,811,061 (GRCm39) missense probably damaging 1.00
IGL01623:Gramd1c APN 16 43,811,061 (GRCm39) missense probably damaging 1.00
IGL03090:Gramd1c APN 16 43,802,463 (GRCm39) missense probably benign 0.11
IGL03325:Gramd1c APN 16 43,825,868 (GRCm39) missense probably benign 0.03
IGL03047:Gramd1c UTSW 16 43,808,610 (GRCm39) missense probably damaging 1.00
R0173:Gramd1c UTSW 16 43,818,196 (GRCm39) missense possibly damaging 0.95
R1299:Gramd1c UTSW 16 43,803,865 (GRCm39) unclassified probably benign
R1389:Gramd1c UTSW 16 43,811,085 (GRCm39) missense probably damaging 1.00
R2330:Gramd1c UTSW 16 43,803,566 (GRCm39) missense probably benign 0.00
R3760:Gramd1c UTSW 16 43,818,154 (GRCm39) missense probably damaging 1.00
R4851:Gramd1c UTSW 16 43,810,200 (GRCm39) missense probably damaging 1.00
R5032:Gramd1c UTSW 16 43,811,026 (GRCm39) missense probably damaging 1.00
R5374:Gramd1c UTSW 16 43,803,604 (GRCm39) missense probably benign
R5538:Gramd1c UTSW 16 43,802,455 (GRCm39) missense probably damaging 0.98
R5859:Gramd1c UTSW 16 43,812,454 (GRCm39) missense possibly damaging 0.81
R6600:Gramd1c UTSW 16 43,860,482 (GRCm39) nonsense probably null
R6899:Gramd1c UTSW 16 43,860,505 (GRCm39) missense probably benign 0.01
R7202:Gramd1c UTSW 16 43,879,584 (GRCm39) missense possibly damaging 0.95
R7648:Gramd1c UTSW 16 43,810,232 (GRCm39) missense probably damaging 1.00
R7880:Gramd1c UTSW 16 43,812,439 (GRCm39) missense probably benign 0.16
R9398:Gramd1c UTSW 16 43,833,381 (GRCm39) missense probably damaging 1.00
R9552:Gramd1c UTSW 16 43,807,294 (GRCm39) missense probably damaging 0.98
R9715:Gramd1c UTSW 16 43,825,840 (GRCm39) missense possibly damaging 0.93
R9755:Gramd1c UTSW 16 43,803,879 (GRCm39) missense probably benign 0.00
X0057:Gramd1c UTSW 16 43,803,580 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCCACTATTGGCAGAGCAAGTAAGG -3'
(R):5'- CTTTTGGCTCTCCACAGAATGCAAC -3'

Sequencing Primer
(F):5'- CCAGGTTGGTGTAAACCATTC -3'
(R):5'- GAATGCAACCTCACGTTTCATTG -3'
Posted On 2014-01-15