Incidental Mutation 'R3949:Disc1'
ID 307825
Institutional Source Beutler Lab
Gene Symbol Disc1
Ensembl Gene ENSMUSG00000043051
Gene Name disrupted in schizophrenia 1
Synonyms
MMRRC Submission 040929-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.328) question?
Stock # R3949 (G1)
Quality Score 175
Status Validated
Chromosome 8
Chromosomal Location 125780934-125988597 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125814874 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 246 (E246G)
Ref Sequence ENSEMBL: ENSMUSP00000074147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074562] [ENSMUST00000075730] [ENSMUST00000098311] [ENSMUST00000115885] [ENSMUST00000117658] [ENSMUST00000118942] [ENSMUST00000122389] [ENSMUST00000121953]
AlphaFold Q811T9
Predicted Effect probably damaging
Transcript: ENSMUST00000074562
AA Change: E246G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074147
Gene: ENSMUSG00000043051
AA Change: E246G

DomainStartEndE-ValueType
low complexity region 220 230 N/A INTRINSIC
low complexity region 288 324 N/A INTRINSIC
coiled coil region 372 397 N/A INTRINSIC
coiled coil region 449 496 N/A INTRINSIC
low complexity region 569 582 N/A INTRINSIC
low complexity region 624 636 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000075730
AA Change: E246G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000075145
Gene: ENSMUSG00000043051
AA Change: E246G

DomainStartEndE-ValueType
low complexity region 220 230 N/A INTRINSIC
low complexity region 288 324 N/A INTRINSIC
coiled coil region 372 397 N/A INTRINSIC
coiled coil region 449 496 N/A INTRINSIC
low complexity region 569 582 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098311
AA Change: E246G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095914
Gene: ENSMUSG00000043051
AA Change: E246G

DomainStartEndE-ValueType
low complexity region 220 230 N/A INTRINSIC
low complexity region 288 324 N/A INTRINSIC
coiled coil region 372 397 N/A INTRINSIC
coiled coil region 449 496 N/A INTRINSIC
low complexity region 569 582 N/A INTRINSIC
low complexity region 624 636 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000115885
AA Change: E246G

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111552
Gene: ENSMUSG00000043051
AA Change: E246G

DomainStartEndE-ValueType
low complexity region 220 230 N/A INTRINSIC
low complexity region 288 324 N/A INTRINSIC
coiled coil region 372 397 N/A INTRINSIC
coiled coil region 449 496 N/A INTRINSIC
low complexity region 569 582 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117658
AA Change: E246G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112757
Gene: ENSMUSG00000043051
AA Change: E246G

DomainStartEndE-ValueType
low complexity region 220 230 N/A INTRINSIC
low complexity region 288 324 N/A INTRINSIC
coiled coil region 372 397 N/A INTRINSIC
coiled coil region 449 496 N/A INTRINSIC
low complexity region 569 582 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118942
AA Change: E246G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112410
Gene: ENSMUSG00000043051
AA Change: E246G

DomainStartEndE-ValueType
low complexity region 220 230 N/A INTRINSIC
low complexity region 288 324 N/A INTRINSIC
coiled coil region 372 397 N/A INTRINSIC
coiled coil region 449 496 N/A INTRINSIC
low complexity region 569 582 N/A INTRINSIC
low complexity region 624 636 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126111
Predicted Effect probably damaging
Transcript: ENSMUST00000122389
AA Change: E246G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112593
Gene: ENSMUSG00000043051
AA Change: E246G

DomainStartEndE-ValueType
low complexity region 220 230 N/A INTRINSIC
low complexity region 288 324 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121953
AA Change: E244G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000112929
Gene: ENSMUSG00000043051
AA Change: E244G

DomainStartEndE-ValueType
low complexity region 218 228 N/A INTRINSIC
low complexity region 286 322 N/A INTRINSIC
coiled coil region 370 395 N/A INTRINSIC
coiled coil region 447 494 N/A INTRINSIC
low complexity region 567 580 N/A INTRINSIC
low complexity region 622 634 N/A INTRINSIC
Meta Mutation Damage Score 0.1079 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (47/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a null allele show altered anxiety, synaptic depression, LTP, impulsivity, social investigation, hyperactivity and prepulse inhibition. Homozygotes for a spontaneous allele show altered working memory. Different ENU mutations cause distinct depression and schizophrenia-like profiles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A T 13: 8,620,455 (GRCm39) M314L probably damaging Het
Apcs A G 1: 172,722,259 (GRCm39) F29S probably damaging Het
Arfgef1 CAGAG CAG 1: 10,212,811 (GRCm39) probably null Het
Avl9 T C 6: 56,705,650 (GRCm39) probably null Het
Ccdc38 A G 10: 93,386,081 (GRCm39) M66V probably damaging Het
Cfap46 T C 7: 139,258,467 (GRCm39) K269E probably benign Het
Chrdl2 A C 7: 99,678,412 (GRCm39) E328A possibly damaging Het
D430041D05Rik T C 2: 104,087,713 (GRCm39) N421S probably benign Het
Dbndd1 G T 8: 124,233,473 (GRCm39) Q207K probably benign Het
Dyrk4 A G 6: 126,862,268 (GRCm39) I408T probably damaging Het
Entpd7 G A 19: 43,679,597 (GRCm39) R50Q probably benign Het
Fan1 C A 7: 64,021,292 (GRCm39) E591* probably null Het
Fpr1 C A 17: 18,097,191 (GRCm39) C266F probably benign Het
Gata4 C T 14: 63,478,146 (GRCm39) R151H possibly damaging Het
Gipr T C 7: 18,891,354 (GRCm39) N441S probably benign Het
Ino80d G T 1: 63,113,662 (GRCm39) Q263K probably benign Het
Ipo13 A G 4: 117,758,239 (GRCm39) I708T probably benign Het
Iqsec3 A T 6: 121,364,783 (GRCm39) Y835* probably null Het
Kctd8 C T 5: 69,498,617 (GRCm39) G10S probably benign Het
Lamb1 A C 12: 31,332,648 (GRCm39) K257Q probably damaging Het
Lcp1 A G 14: 75,443,569 (GRCm39) N195S possibly damaging Het
Or4k48 A T 2: 111,475,871 (GRCm39) I157K possibly damaging Het
Or5b121 T C 19: 13,507,384 (GRCm39) S160P probably damaging Het
Paxbp1 T C 16: 90,840,905 (GRCm39) D113G probably damaging Het
Pcdhb7 T C 18: 37,476,141 (GRCm39) S426P probably benign Het
Pcnx4 A G 12: 72,603,076 (GRCm39) D446G probably benign Het
Pkd1 T A 17: 24,797,011 (GRCm39) probably benign Het
Pld2 A G 11: 70,444,180 (GRCm39) D492G probably benign Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Rasgrf1 A C 9: 89,863,797 (GRCm39) probably benign Het
Ryr3 C G 2: 112,506,218 (GRCm39) R3443P probably damaging Het
Serpinb10 T A 1: 107,468,636 (GRCm39) L170H probably damaging Het
Sfxn4 A G 19: 60,840,501 (GRCm39) Y165H probably damaging Het
Slc32a1 C T 2: 158,453,152 (GRCm39) probably benign Het
Slco5a1 A T 1: 13,059,833 (GRCm39) V296D probably damaging Het
Syn2 T A 6: 115,204,290 (GRCm39) probably null Het
Tbx2 C T 11: 85,729,101 (GRCm39) Q495* probably null Het
Trav6-1 G A 14: 52,875,993 (GRCm39) V8M probably benign Het
Usp7 A T 16: 8,534,428 (GRCm39) N46K probably damaging Het
Vmn2r58 A T 7: 41,513,348 (GRCm39) F432I probably benign Het
Vmn2r99 T C 17: 19,599,252 (GRCm39) M312T probably benign Het
Washc2 T C 6: 116,185,165 (GRCm39) probably benign Het
Yju2b A G 8: 84,985,453 (GRCm39) V272A probably benign Het
Other mutations in Disc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00402:Disc1 APN 8 125,815,014 (GRCm39) missense probably benign 0.27
IGL01319:Disc1 APN 8 125,814,630 (GRCm39) missense probably damaging 0.99
IGL02001:Disc1 APN 8 125,977,781 (GRCm39) missense probably damaging 0.97
IGL02403:Disc1 APN 8 125,862,258 (GRCm39) splice site probably benign
IGL02445:Disc1 APN 8 125,875,142 (GRCm39) splice site probably benign
R0334:Disc1 UTSW 8 125,987,836 (GRCm39) splice site probably null
R0992:Disc1 UTSW 8 125,814,781 (GRCm39) missense probably damaging 1.00
R1654:Disc1 UTSW 8 125,875,204 (GRCm39) missense possibly damaging 0.90
R1711:Disc1 UTSW 8 125,851,349 (GRCm39) missense probably benign 0.05
R3154:Disc1 UTSW 8 125,862,043 (GRCm39) missense probably damaging 1.00
R3947:Disc1 UTSW 8 125,814,874 (GRCm39) missense probably damaging 1.00
R3948:Disc1 UTSW 8 125,814,874 (GRCm39) missense probably damaging 1.00
R4051:Disc1 UTSW 8 125,875,164 (GRCm39) missense possibly damaging 0.85
R4199:Disc1 UTSW 8 125,875,198 (GRCm39) missense probably damaging 1.00
R4691:Disc1 UTSW 8 125,875,186 (GRCm39) missense possibly damaging 0.90
R4763:Disc1 UTSW 8 125,851,277 (GRCm39) missense probably damaging 1.00
R4825:Disc1 UTSW 8 125,862,041 (GRCm39) missense possibly damaging 0.86
R4969:Disc1 UTSW 8 125,851,289 (GRCm39) nonsense probably null
R5087:Disc1 UTSW 8 125,858,899 (GRCm39) missense probably benign
R5383:Disc1 UTSW 8 125,862,196 (GRCm39) missense probably damaging 1.00
R5827:Disc1 UTSW 8 125,862,104 (GRCm39) missense probably damaging 1.00
R5828:Disc1 UTSW 8 125,977,763 (GRCm39) missense probably damaging 0.99
R6431:Disc1 UTSW 8 125,862,128 (GRCm39) missense possibly damaging 0.87
R6501:Disc1 UTSW 8 125,944,844 (GRCm39) missense probably benign 0.00
R6794:Disc1 UTSW 8 125,814,514 (GRCm39) missense probably benign 0.37
R7058:Disc1 UTSW 8 125,977,724 (GRCm39) missense probably damaging 1.00
R7350:Disc1 UTSW 8 125,891,841 (GRCm39) missense probably damaging 1.00
R7365:Disc1 UTSW 8 125,881,780 (GRCm39) missense probably damaging 1.00
R7732:Disc1 UTSW 8 125,977,714 (GRCm39) nonsense probably null
R7757:Disc1 UTSW 8 125,814,243 (GRCm39) missense probably benign 0.03
R8113:Disc1 UTSW 8 125,815,014 (GRCm39) missense probably benign 0.27
R8179:Disc1 UTSW 8 125,814,316 (GRCm39) missense probably benign 0.05
R8400:Disc1 UTSW 8 125,959,732 (GRCm39) missense probably benign 0.02
R8459:Disc1 UTSW 8 125,891,894 (GRCm39) missense possibly damaging 0.91
R8492:Disc1 UTSW 8 125,817,177 (GRCm39) missense probably damaging 1.00
R8762:Disc1 UTSW 8 125,881,796 (GRCm39) missense probably damaging 1.00
R8857:Disc1 UTSW 8 125,891,870 (GRCm39) missense probably damaging 1.00
R8858:Disc1 UTSW 8 125,977,781 (GRCm39) missense probably damaging 0.97
R8936:Disc1 UTSW 8 125,814,754 (GRCm39) missense probably damaging 0.97
R9365:Disc1 UTSW 8 125,851,285 (GRCm39) missense probably benign 0.00
R9599:Disc1 UTSW 8 125,814,261 (GRCm39) missense possibly damaging 0.91
R9728:Disc1 UTSW 8 125,959,795 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- CAGACAGCTTTAAGTCTCTGGC -3'
(R):5'- TGCATCCTGGGAAGAGAAGC -3'

Sequencing Primer
(F):5'- TGAAGACTGTGAAACCTCTGGCATC -3'
(R):5'- CCTGGGAAGAGAAGCCAGTGTC -3'
Posted On 2015-04-17