Incidental Mutation 'R4969:Disc1'
ID 384277
Institutional Source Beutler Lab
Gene Symbol Disc1
Ensembl Gene ENSMUSG00000043051
Gene Name disrupted in schizophrenia 1
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.328) question?
Stock # R4969 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 125780934-125988597 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 125851289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 391 (W391*)
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 null
Transcript: ENSMUST00000074562
AA Change: W393*
SMART Domains Protein: ENSMUSP00000074147
Gene: ENSMUSG00000043051
AA Change: W393*

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 null
Transcript: ENSMUST00000075730
AA Change: W393*
SMART Domains Protein: ENSMUSP00000075145
Gene: ENSMUSG00000043051
AA Change: W393*

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 null
Transcript: ENSMUST00000098311
AA Change: W393*
SMART Domains Protein: ENSMUSP00000095914
Gene: ENSMUSG00000043051
AA Change: W393*

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 null
Transcript: ENSMUST00000115885
AA Change: W393*
SMART Domains Protein: ENSMUSP00000111552
Gene: ENSMUSG00000043051
AA Change: W393*

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 null
Transcript: ENSMUST00000117658
AA Change: W393*
SMART Domains Protein: ENSMUSP00000112757
Gene: ENSMUSG00000043051
AA Change: W393*

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 null
Transcript: ENSMUST00000118942
AA Change: W393*
SMART Domains Protein: ENSMUSP00000112410
Gene: ENSMUSG00000043051
AA Change: W393*

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 null
Transcript: ENSMUST00000121953
AA Change: W391*
SMART Domains Protein: ENSMUSP00000112929
Gene: ENSMUSG00000043051
AA Change: W391*

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.2%
Validation Efficiency
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 A G 7: 45,754,943 (GRCm39) I1525T probably benign Het
Agtpbp1 A G 13: 59,648,392 (GRCm39) V476A probably benign Het
Aipl1 A G 11: 71,922,256 (GRCm39) I151T probably benign Het
Apc C T 18: 34,445,971 (GRCm39) R938* probably null Het
Atp2a2 A G 5: 122,596,554 (GRCm39) F855S possibly damaging Het
Axdnd1 T C 1: 156,223,075 (GRCm39) T261A possibly damaging Het
Cbfa2t2 A G 2: 154,365,900 (GRCm39) D370G probably damaging Het
Cep350 T C 1: 155,736,025 (GRCm39) I2964V probably damaging Het
Clec16a T C 16: 10,386,375 (GRCm39) V158A probably damaging Het
Col6a5 G A 9: 105,741,806 (GRCm39) T2371I probably damaging Het
Cpne8 T C 15: 90,503,929 (GRCm39) T79A probably damaging Het
Cyp2b13 A G 7: 25,780,413 (GRCm39) R145G probably damaging Het
Dnah8 G A 17: 30,941,988 (GRCm39) V1745I probably damaging Het
Dsp T C 13: 38,376,886 (GRCm39) V1557A probably benign Het
Egfem1 T A 3: 29,637,145 (GRCm39) Y194N probably damaging Het
Eif4a3 A G 11: 119,179,705 (GRCm39) Y361H probably damaging Het
Esd T A 14: 74,982,153 (GRCm39) S189R possibly damaging Het
Fancf A T 7: 51,511,196 (GRCm39) Y269* probably null Het
Fbln2 A T 6: 91,248,569 (GRCm39) H1078L possibly damaging Het
Fbxw13 A G 9: 109,010,592 (GRCm39) probably null Het
Fcgr2b A T 1: 170,790,941 (GRCm39) V284D probably benign Het
Fuz G A 7: 44,549,718 (GRCm39) G363R probably damaging Het
Gas7 A G 11: 67,574,234 (GRCm39) E403G probably damaging Het
Gnl1 A G 17: 36,291,581 (GRCm39) D49G possibly damaging Het
Gucy2g A G 19: 55,214,445 (GRCm39) V561A probably benign Het
H1f7 A T 15: 98,154,216 (GRCm39) V311E unknown Het
Hebp2 T C 10: 18,420,122 (GRCm39) T104A probably benign Het
Ighv1-19 T A 12: 114,672,377 (GRCm39) Q80L probably benign Het
Kctd19 T A 8: 106,122,959 (GRCm39) probably null Het
Kdm3b T C 18: 34,955,428 (GRCm39) L905P probably damaging Het
Klkb1 T C 8: 45,735,814 (GRCm39) D183G probably benign Het
Krt6b T C 15: 101,588,460 (GRCm39) R67G possibly damaging Het
Krt75 T C 15: 101,482,248 (GRCm39) I7V probably benign Het
Lpo A T 11: 87,697,751 (GRCm39) N685K probably benign Het
Mroh7 A T 4: 106,538,070 (GRCm39) I1202N probably benign Het
Muc4 T A 16: 32,754,572 (GRCm38) M1482K probably benign Het
Mylk T A 16: 34,791,810 (GRCm39) V1494E probably damaging Het
Neurl4 A G 11: 69,801,913 (GRCm39) D17G probably damaging Het
Nkx6-3 A G 8: 23,647,725 (GRCm39) Y228C probably damaging Het
Nprl2 G A 9: 107,420,273 (GRCm39) probably null Het
Nxf1 A G 19: 8,739,669 (GRCm39) probably null Het
Or4a39 A G 2: 89,236,770 (GRCm39) F218L probably benign Het
Or52u1 A T 7: 104,237,730 (GRCm39) N240Y probably damaging Het
Pde3b A G 7: 114,118,847 (GRCm39) E662G possibly damaging Het
Plekhm3 G A 1: 64,977,078 (GRCm39) R131C probably damaging Het
Plpp7 T C 2: 31,985,950 (GRCm39) S43P probably benign Het
Pramel5 A G 4: 143,998,187 (GRCm39) L352P probably damaging Het
Prepl T C 17: 85,395,902 (GRCm39) S27G probably benign Het
Ptprd A G 4: 76,051,542 (GRCm39) I227T probably damaging Het
Pttg1ip C T 10: 77,419,854 (GRCm39) Q6* probably null Het
Rgl1 C T 1: 152,424,813 (GRCm39) probably null Het
Riiad1 C A 3: 94,380,173 (GRCm39) G41* probably null Het
Rnf214 C T 9: 45,807,486 (GRCm39) R239H probably damaging Het
Rpap3 C T 15: 97,584,407 (GRCm39) V346I probably benign Het
Scaf4 G A 16: 90,048,831 (GRCm39) Q328* probably null Het
Sec23a A G 12: 59,051,274 (GRCm39) probably null Het
Slc5a8 T A 10: 88,740,774 (GRCm39) probably null Het
Slc9a8 A G 2: 167,288,449 (GRCm39) T183A probably benign Het
Sod3 A T 5: 52,525,736 (GRCm39) H145L probably damaging Het
Sp4 A G 12: 118,263,341 (GRCm39) V235A probably damaging Het
Spp1 A C 5: 104,588,153 (GRCm39) E185A possibly damaging Het
Susd1 A T 4: 59,351,679 (GRCm39) W461R probably benign Het
Svil A C 18: 5,095,516 (GRCm39) K1124Q probably damaging Het
Tdrd12 A T 7: 35,186,720 (GRCm39) probably null Het
Terb1 A T 8: 105,221,795 (GRCm39) N168K probably benign Het
Tnnt1 A G 7: 4,510,573 (GRCm39) L216P probably damaging Het
Ttc28 A G 5: 111,424,121 (GRCm39) K1463E probably damaging Het
Twf2 T G 9: 106,089,098 (GRCm39) probably null Het
Urb1 C T 16: 90,602,299 (GRCm39) R90Q probably damaging Het
Wdr45b A T 11: 121,219,650 (GRCm39) C299* probably null Het
Wrap73 A G 4: 154,237,138 (GRCm39) S54G probably damaging Het
Zeb2 T C 2: 44,888,931 (GRCm39) K323R probably damaging Het
Zfp410 T C 12: 84,378,582 (GRCm39) I302T possibly damaging 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
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'- GGAAATAGCCCTCAGCCTTG -3'
(R):5'- TAGGCCTCCCTCTAAATGGACC -3'

Sequencing Primer
(F):5'- CTCAGCCTTGAGTGGTCCAGATG -3'
(R):5'- TAAATGGACCTATCTTCTCCAACATC -3'
Posted On 2016-04-27