Mutagenetix > Incidental Mutation

Incidental Mutation 'R7757:Disc1'

597618

Institutional Source

Beutler Lab

Gene Symbol

Disc1

Ensembl Gene

ENSMUSG00000043051

Gene Name

disrupted in schizophrenia 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.281) question?

Stock #

R7757 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125054195-125261858 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125087504 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 36 (T36A)

Ref Sequence

ENSEMBL: ENSMUSP00000095914 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074562] [ENSMUST00000075730] [ENSMUST00000098311] [ENSMUST00000115885] [ENSMUST00000117658] [ENSMUST00000118942] [ENSMUST00000121953] [ENSMUST00000122389]

AlphaFold

Q811T9

Predicted Effect

probably benign
Transcript: ENSMUST00000074562
AA Change: T36A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000074147
Gene: ENSMUSG00000043051
AA Change: T36A

Domain	Start	End	E-Value	Type
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: T36A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000075145
Gene: ENSMUSG00000043051
AA Change: T36A

Domain	Start	End	E-Value	Type
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: T36A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000095914
Gene: ENSMUSG00000043051
AA Change: T36A

Domain	Start	End	E-Value	Type
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: T36A

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000111552
Gene: ENSMUSG00000043051
AA Change: T36A

Domain	Start	End	E-Value	Type
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: T36A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000112757
Gene: ENSMUSG00000043051
AA Change: T36A

Domain	Start	End	E-Value	Type
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: T36A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112410
Gene: ENSMUSG00000043051
AA Change: T36A

Domain	Start	End	E-Value	Type
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: T34A

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000112929
Gene: ENSMUSG00000043051
AA Change: T34A

Domain	Start	End	E-Value	Type
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

Predicted Effect

probably benign
Transcript: ENSMUST00000122389
AA Change: T36A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112593
Gene: ENSMUSG00000043051
AA Change: T36A

Domain	Start	End	E-Value	Type
low complexity region	220	230	N/A	INTRINSIC
low complexity region	288	324	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (70/73)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	T	15: 8,252,227	E2850V	unknown	Het
2700049A03Rik	G	A	12: 71,189,413	M1179I	probably benign	Het
6430550D23Rik	T	C	2: 156,003,431	T18A	possibly damaging	Het
Acox2	T	C	14: 8,230,166	N659S	probably damaging	Het
Agk	T	C	6: 40,376,278	V192A	possibly damaging	Het
Ap3b1	T	A	13: 94,528,158		probably null	Het
Bche	T	A	3: 73,701,121	D324V	probably damaging	Het
Bsn	A	G	9: 108,114,740	I1271T	possibly damaging	Het
Capn12	T	C	7: 28,882,821	L120P	probably damaging	Het
Cep290	T	A	10: 100,563,434	S2273T	probably benign	Het
Ckap4	T	C	10: 84,528,467	E244G	probably damaging	Het
Clcn7	T	C	17: 25,156,822	Y545H	probably damaging	Het
Cmya5	T	A	13: 93,098,272	T103S	possibly damaging	Het
Cpne9	G	A	6: 113,284,445	V121M	possibly damaging	Het
Csmd2	T	A	4: 128,483,456	I2043N		Het
Disp2	T	C	2: 118,790,910	Y708H	probably damaging	Het
Dnah3	A	G	7: 120,071,570	V635A	probably benign	Het
Dnah3	A	T	7: 119,971,215		probably null	Het
Dync1li1	A	G	9: 114,709,277	H234R	possibly damaging	Het
Egfr	T	C	11: 16,889,966	V660A	possibly damaging	Het
Epb42	T	C	2: 121,027,719	R253G	possibly damaging	Het
Fat2	T	A	11: 55,311,421	T276S	probably benign	Het
Fcho2	A	G	13: 98,764,503		probably null	Het
Ginm1	A	T	10: 7,779,355	I41N	probably damaging	Het
Gm4744	A	G	6: 40,950,433		probably benign	Het
Gm49368	C	T	7: 128,112,226	R701C	probably damaging	Het
Gpr37	T	A	6: 25,688,208	I297F	probably benign	Het
Gprc5a	T	A	6: 135,079,344	I263N	possibly damaging	Het
Gys2	A	T	6: 142,454,451	S345T	probably benign	Het
Hk2	T	C	6: 82,742,915	M255V	possibly damaging	Het
Ibtk	A	C	9: 85,697,237	S1202A	possibly damaging	Het
Il23r	T	G	6: 67,423,981	D455A	probably benign	Het
Irs2	T	A	8: 11,006,522	K637*	probably null	Het
Jak2	T	C	19: 29,283,546	V314A	probably benign	Het
Mei1	C	T	15: 82,082,623		probably benign	Het
Mill1	T	C	7: 18,262,466	M69T	probably benign	Het
Mms22l	T	C	4: 24,598,884		probably null	Het
Mup8	C	A	4: 60,220,332	Q133H	probably benign	Het
Mup8	T	A	4: 60,220,333	Q133L	probably benign	Het
Mycbp2	A	T	14: 103,191,619	Y2374N	probably damaging	Het
Nbeal1	A	T	1: 60,257,450	K1166N	probably damaging	Het
Nlrc4	T	A	17: 74,448,196	R8S	probably benign	Het
Nrcam	C	T	12: 44,549,898	Q25*	probably null	Het
Nudt16	A	C	9: 105,131,561	M47R	probably damaging	Het
Nup62	T	C	7: 44,828,995	S145P	probably benign	Het
Olfr1222	T	C	2: 89,124,989	I247M	possibly damaging	Het
Olfr959	A	G	9: 39,572,465	W265R	probably benign	Het
Osbpl1a	A	T	18: 12,933,600	V34D	probably benign	Het
Otogl	T	A	10: 107,876,921	N521Y	probably damaging	Het
Pcdhb14	T	A	18: 37,449,834	D664E	possibly damaging	Het
Pex5l	T	C	3: 33,082,151		probably benign	Het
Pkhd1	A	G	1: 20,562,415	L592P	probably damaging	Het
Plxdc2	A	G	2: 16,729,376	H480R	probably benign	Het
Rnf216	T	A	5: 143,080,236	K532N	probably damaging	Het
Schip1	C	A	3: 68,617,695	Q358K	probably damaging	Het
Sdc2	A	T	15: 33,028,087	E117V	possibly damaging	Het
Sept11	A	T	5: 93,171,464		probably null	Het
Shprh	A	T	10: 11,162,180	E420V	probably benign	Het
Ska1	T	A	18: 74,196,973	H232L	probably benign	Het
Slc36a4	A	G	9: 15,719,660	N25S	possibly damaging	Het
Slitrk3	G	A	3: 73,050,839	T200M	probably damaging	Het
Smad2	C	T	18: 76,288,013	H138Y	probably benign	Het
Snx21	T	C	2: 164,786,165	S34P	probably damaging	Het
Sos2	A	G	12: 69,648,585	V126A	probably damaging	Het
Srcap	C	T	7: 127,530,794	T596I	probably damaging	Het
Stk31	T	G	6: 49,406,943		probably null	Het
Stox1	T	C	10: 62,663,964	D939G	probably damaging	Het
Syne2	G	T	12: 76,061,779	C979F	possibly damaging	Het
Tanc2	C	A	11: 105,776,858	N88K	possibly damaging	Het
Tll2	A	T	19: 41,096,008	V677E	probably damaging	Het
Ttn	T	C	2: 76,918,490	T4072A	probably benign	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312		probably benign	Het
Unc13b	AGAGCC	AGAGCCCGAGCC	4: 43,177,330		probably benign	Het
Unc13b	CAGAGC	CAGAGCGAGAGC	4: 43,177,341		probably benign	Het
Vmn2r43	A	T	7: 8,255,254	F320Y	possibly damaging	Het
Zscan4f	G	T	7: 11,401,278	G204*	probably null	Het

Other mutations in Disc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Disc1	APN	8	125088275	missense	probably benign	0.27
IGL01319:Disc1	APN	8	125087891	missense	probably damaging	0.99
IGL02001:Disc1	APN	8	125251042	missense	probably damaging	0.97
IGL02403:Disc1	APN	8	125135519	splice site	probably benign
IGL02445:Disc1	APN	8	125148403	splice site	probably benign
R0334:Disc1	UTSW	8	125261097	splice site	probably null
R0992:Disc1	UTSW	8	125088042	missense	probably damaging	1.00
R1654:Disc1	UTSW	8	125148465	missense	possibly damaging	0.90
R1711:Disc1	UTSW	8	125124610	missense	probably benign	0.05
R3154:Disc1	UTSW	8	125135304	missense	probably damaging	1.00
R3947:Disc1	UTSW	8	125088135	missense	probably damaging	1.00
R3948:Disc1	UTSW	8	125088135	missense	probably damaging	1.00
R3949:Disc1	UTSW	8	125088135	missense	probably damaging	1.00
R4051:Disc1	UTSW	8	125148425	missense	possibly damaging	0.85
R4199:Disc1	UTSW	8	125148459	missense	probably damaging	1.00
R4691:Disc1	UTSW	8	125148447	missense	possibly damaging	0.90
R4763:Disc1	UTSW	8	125124538	missense	probably damaging	1.00
R4825:Disc1	UTSW	8	125135302	missense	possibly damaging	0.86
R4969:Disc1	UTSW	8	125124550	nonsense	probably null
R5087:Disc1	UTSW	8	125132160	missense	probably benign
R5383:Disc1	UTSW	8	125135457	missense	probably damaging	1.00
R5827:Disc1	UTSW	8	125135365	missense	probably damaging	1.00
R5828:Disc1	UTSW	8	125251024	missense	probably damaging	0.99
R6431:Disc1	UTSW	8	125135389	missense	possibly damaging	0.87
R6501:Disc1	UTSW	8	125218105	missense	probably benign	0.00
R6794:Disc1	UTSW	8	125087775	missense	probably benign	0.37
R7058:Disc1	UTSW	8	125250985	missense	probably damaging	1.00
R7350:Disc1	UTSW	8	125165102	missense	probably damaging	1.00
R7365:Disc1	UTSW	8	125155041	missense	probably damaging	1.00
R7732:Disc1	UTSW	8	125250975	nonsense	probably null
R8113:Disc1	UTSW	8	125088275	missense	probably benign	0.27
R8179:Disc1	UTSW	8	125087577	missense	probably benign	0.05
R8400:Disc1	UTSW	8	125232993	missense	probably benign	0.02
R8459:Disc1	UTSW	8	125165155	missense	possibly damaging	0.91
R8492:Disc1	UTSW	8	125090438	missense	probably damaging	1.00
R8762:Disc1	UTSW	8	125155057	missense	probably damaging	1.00
R8857:Disc1	UTSW	8	125165131	missense	probably damaging	1.00
R8858:Disc1	UTSW	8	125251042	missense	probably damaging	0.97
R8936:Disc1	UTSW	8	125088015	missense	probably damaging	0.97
R9365:Disc1	UTSW	8	125124546	missense	probably benign	0.00
R9599:Disc1	UTSW	8	125087522	missense	possibly damaging	0.91
R9728:Disc1	UTSW	8	125233056	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- AGACATACAGTAGGGCCTGC -3'
(R):5'- TTGAGAAAAGGCTTGCCCAC -3'

Sequencing Primer
(F):5'- ACTCCCTCTGGTAGTAAGGATGAC -3'
(R):5'- GAAAAGGCTTGCCCACCAGTG -3'

Posted On

2019-11-26