Incidental Mutation 'R5087:Disc1'
ID 387515
Institutional Source Beutler Lab
Gene Symbol Disc1
Ensembl Gene ENSMUSG00000043051
Gene Name disrupted in schizophrenia 1
Synonyms
MMRRC Submission 042676-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.328) question?
Stock # R5087 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 125780934-125988597 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 125858899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 454 (I454L)
Ref Sequence ENSEMBL: ENSMUSP00000112929 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074562] [ENSMUST00000075730] [ENSMUST00000098311] [ENSMUST00000115885] [ENSMUST00000117658] [ENSMUST00000118942] [ENSMUST00000121953]
AlphaFold Q811T9
Predicted Effect probably benign
Transcript: ENSMUST00000074562
AA Change: I456L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074147
Gene: ENSMUSG00000043051
AA Change: I456L

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 benign
Transcript: ENSMUST00000075730
AA Change: I456L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075145
Gene: ENSMUSG00000043051
AA Change: I456L

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 benign
Transcript: ENSMUST00000098311
AA Change: I456L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000095914
Gene: ENSMUSG00000043051
AA Change: I456L

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 benign
Transcript: ENSMUST00000115885
AA Change: I456L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111552
Gene: ENSMUSG00000043051
AA Change: I456L

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 benign
Transcript: ENSMUST00000117658
AA Change: I456L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112757
Gene: ENSMUSG00000043051
AA Change: I456L

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 benign
Transcript: ENSMUST00000118942
AA Change: I456L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112410
Gene: ENSMUSG00000043051
AA Change: I456L

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 benign
Transcript: ENSMUST00000121953
AA Change: I454L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112929
Gene: ENSMUSG00000043051
AA Change: I454L

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (66/67)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A G 1: 9,631,851 (GRCm39) probably benign Het
Anln T C 9: 22,286,340 (GRCm39) T322A possibly damaging Het
Best3 A T 10: 116,844,907 (GRCm39) Y354F probably benign Het
Cd44 C T 2: 102,661,699 (GRCm39) V509I possibly damaging Het
Cdk5rap1 T C 2: 154,184,315 (GRCm39) N529S probably damaging Het
Cnst A G 1: 179,450,378 (GRCm39) D614G possibly damaging Het
Cpq T C 15: 33,213,008 (GRCm39) I9T probably benign Het
Cyp2j6 T C 4: 96,419,936 (GRCm39) H265R probably damaging Het
Dctn1 T A 6: 83,168,621 (GRCm39) M458K probably damaging Het
Dnaja4 A G 9: 54,607,023 (GRCm39) E4G probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Eipr1 C A 12: 28,878,855 (GRCm39) N136K probably benign Het
Fut11 A G 14: 20,746,229 (GRCm39) N357S probably damaging Het
Gbp2b C T 3: 142,304,015 (GRCm39) P37S probably damaging Het
Ghr T G 15: 3,349,622 (GRCm39) K519Q probably damaging Het
Gipr C A 7: 18,893,689 (GRCm39) C328F probably damaging Het
Gm27013 A T 6: 130,654,633 (GRCm39) N276K probably damaging Het
Got2 C A 8: 96,598,951 (GRCm39) K150N probably benign Het
Gucy2c A G 6: 136,744,033 (GRCm39) S189P possibly damaging Het
H2-T5 C A 17: 36,476,308 (GRCm39) G347* probably null Het
Hells T C 19: 38,932,189 (GRCm39) V153A probably benign Het
Ighd G A 12: 113,378,047 (GRCm39) probably benign Het
Inhca C T 9: 103,143,420 (GRCm39) V361M probably damaging Het
Itga4 A C 2: 79,145,973 (GRCm39) D725A possibly damaging Het
Itgbl1 T A 14: 124,204,151 (GRCm39) L414Q possibly damaging Het
Kat2b-ps A G 5: 93,539,585 (GRCm39) noncoding transcript Het
Lrrc1 A T 9: 77,364,740 (GRCm39) S192T probably benign Het
Mc2r A T 18: 68,541,274 (GRCm39) N6K probably benign Het
Moxd2 A C 6: 40,856,270 (GRCm39) L534W probably damaging Het
Myh4 A T 11: 67,146,235 (GRCm39) D1431V probably damaging Het
Naa15 T A 3: 51,364,706 (GRCm39) probably null Het
Naa16 G A 14: 79,614,855 (GRCm39) T215I possibly damaging Het
Ntng1 A T 3: 110,042,645 (GRCm39) Y60* probably null Het
Or1e29 T C 11: 73,668,084 (GRCm39) Y23C possibly damaging Het
Or2g25 A T 17: 37,970,612 (GRCm39) V204E probably damaging Het
Pccb T C 9: 100,867,296 (GRCm39) probably benign Het
Pcnx1 C A 12: 82,041,713 (GRCm39) P2115Q probably damaging Het
Pfkfb3 G A 2: 11,488,825 (GRCm39) T313I probably damaging Het
Pld1 A G 3: 28,178,731 (GRCm39) N875S probably damaging Het
Ptpn20 A T 14: 33,336,398 (GRCm39) D79V possibly damaging Het
Rabgap1l C A 1: 160,549,809 (GRCm39) V266L probably damaging Het
Reep6 A G 10: 80,171,009 (GRCm39) D295G probably damaging Het
Sass6 T C 3: 116,403,947 (GRCm39) L195P probably damaging Het
Slc25a27 A G 17: 43,977,821 (GRCm39) S25P probably damaging Het
Smok2b T A 17: 13,454,011 (GRCm39) M57K probably benign Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Sspo T C 6: 48,465,405 (GRCm39) V71A possibly damaging Het
Stab1 G A 14: 30,881,261 (GRCm39) L590F probably damaging Het
Stard9 T A 2: 120,527,500 (GRCm39) Y1252* probably null Het
Syde2 T A 3: 145,712,881 (GRCm39) D1006E probably damaging Het
Syde2 CAGTT CAGTTAGTT 3: 145,707,163 (GRCm39) probably null Het
Tmc5 G A 7: 118,244,609 (GRCm39) A496T possibly damaging Het
Ttn A G 2: 76,566,704 (GRCm39) V28063A probably damaging Het
Usp25 A C 16: 76,874,007 (GRCm39) I528L probably benign Het
Vmn1r58 C T 7: 5,413,666 (GRCm39) S188N probably benign Het
Wfikkn2 A T 11: 94,129,173 (GRCm39) C323S probably damaging Het
Zfy1 A C Y: 732,964 (GRCm39) S290A unknown 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
R3949: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
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'- GAAATGTACATTAGGGGCTCCATC -3'
(R):5'- CAACCCAGTCCTGTGCAAAG -3'

Sequencing Primer
(F):5'- GACAAGCTTTGTGCAGTCTCTAAG -3'
(R):5'- TCCTGTGCAAAGGAGTGGC -3'
Posted On 2016-06-06