Incidental Mutation 'R4002:Grcc10'
ID 311306
Institutional Source Beutler Lab
Gene Symbol Grcc10
Ensembl Gene ENSMUSG00000072772
Gene Name gene rich cluster, C10 gene
Synonyms 2310033H05Rik
MMRRC Submission 041609-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R4002 (G1)
Quality Score 155
Status Validated
Chromosome 6
Chromosomal Location 124716146-124718032 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 124717933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000004389 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004377] [ENSMUST00000004389] [ENSMUST00000088357] [ENSMUST00000129411] [ENSMUST00000171549] [ENSMUST00000174265]
AlphaFold O35127
Predicted Effect probably benign
Transcript: ENSMUST00000004377
SMART Domains Protein: ENSMUSP00000004377
Gene: ENSMUSG00000004266

DomainStartEndE-ValueType
SH2 4 87 1.43e-28 SMART
SH2 110 202 1.45e-29 SMART
PTPc 245 519 7.51e-131 SMART
low complexity region 571 581 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000004389
AA Change: M1K
SMART Domains Protein: ENSMUSP00000004389
Gene: ENSMUSG00000072772
AA Change: M1K

DomainStartEndE-ValueType
Pfam:DUF4511 11 113 5e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000088357
SMART Domains Protein: ENSMUSP00000085695
Gene: ENSMUSG00000004263

DomainStartEndE-ValueType
Pfam:Atrophin-1 1 191 7.9e-30 PFAM
low complexity region 209 218 N/A INTRINSIC
low complexity region 231 253 N/A INTRINSIC
low complexity region 256 297 N/A INTRINSIC
low complexity region 301 317 N/A INTRINSIC
low complexity region 351 372 N/A INTRINSIC
low complexity region 378 396 N/A INTRINSIC
Pfam:Atrophin-1 405 1174 4.6e-209 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129411
SMART Domains Protein: ENSMUSP00000115407
Gene: ENSMUSG00000107478

DomainStartEndE-ValueType
Pfam:Atrophin-1 1 164 3.8e-33 PFAM
low complexity region 209 218 N/A INTRINSIC
low complexity region 231 253 N/A INTRINSIC
low complexity region 256 297 N/A INTRINSIC
low complexity region 301 317 N/A INTRINSIC
Pfam:Atrophin-1 327 1175 1.7e-192 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129823
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133577
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140423
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158458
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174861
Predicted Effect probably benign
Transcript: ENSMUST00000171549
SMART Domains Protein: ENSMUSP00000129124
Gene: ENSMUSG00000004266

DomainStartEndE-ValueType
SH2 4 87 1.43e-28 SMART
SH2 110 202 1.45e-29 SMART
PTPc 245 519 7.51e-131 SMART
low complexity region 571 581 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174265
SMART Domains Protein: ENSMUSP00000133991
Gene: ENSMUSG00000004266

DomainStartEndE-ValueType
Pfam:SH2 1 40 3.5e-6 PFAM
SH2 69 161 1.45e-29 SMART
PTPc 204 478 7.51e-131 SMART
low complexity region 530 540 N/A INTRINSIC
Meta Mutation Damage Score 0.7948 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 97% (29/30)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,274,964 (GRCm39) N222K possibly damaging Het
Abca13 A T 11: 9,535,415 (GRCm39) M4680L probably benign Het
Adgrv1 GA GAA 13: 81,688,251 (GRCm39) probably null Het
Afdn T C 17: 14,104,179 (GRCm39) S1157P probably damaging Het
Ank1 A G 8: 23,629,479 (GRCm39) T63A probably damaging Het
Asah1 A G 8: 41,801,176 (GRCm39) probably benign Het
Cdh18 T A 15: 23,383,048 (GRCm39) L277I possibly damaging Het
Ces3a A T 8: 105,784,093 (GRCm39) D431V probably damaging Het
Dbx1 T C 7: 49,286,265 (GRCm39) S67G probably benign Het
Dmxl2 A G 9: 54,381,116 (GRCm39) probably benign Het
Dnah7a T A 1: 53,670,840 (GRCm39) T471S probably benign Het
Efcab8 A T 2: 153,623,726 (GRCm39) K70N probably benign Het
Higd2a G C 13: 54,738,540 (GRCm39) C53S probably damaging Het
Kcna4 C T 2: 107,126,259 (GRCm39) P331L probably damaging Het
Keg1 T A 19: 12,696,307 (GRCm39) S164T possibly damaging Het
Ltbp1 T C 17: 75,617,154 (GRCm39) V1031A probably benign Het
Obsl1 G A 1: 75,476,743 (GRCm39) T737I possibly damaging Het
Or10al7 G A 17: 38,365,879 (GRCm39) L193F probably damaging Het
Or7g33 C T 9: 19,449,202 (GRCm39) R8K probably benign Het
Or7g35 T G 9: 19,496,010 (GRCm39) M59R probably damaging Het
Serpinb6d A G 13: 33,854,630 (GRCm39) M202V probably damaging Het
Tcf19 A G 17: 35,826,822 (GRCm39) probably null Het
Tlr11 T C 14: 50,599,984 (GRCm39) F657L probably benign Het
Ttf2 G A 3: 100,855,541 (GRCm39) Q96* probably null Het
Ube2frt G A 12: 36,140,635 (GRCm39) probably benign Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zfp810 C T 9: 22,190,188 (GRCm39) C240Y probably damaging Het
Other mutations in Grcc10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1717:Grcc10 UTSW 6 124,717,476 (GRCm39) unclassified probably benign
R1855:Grcc10 UTSW 6 124,717,541 (GRCm39) missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- ATAAGCTTGTCCTCCCAACC -3'
(R):5'- AGCAAAACAGTTCTCTTCCCCG -3'

Sequencing Primer
(F):5'- CAACCCTTCGCCCTAATGG -3'
(R):5'- AGAGGGGCTTTGATCCTTCTC -3'
Posted On 2015-04-29