Mutagenetix > Incidental Mutation

Incidental Mutation 'R0334:Disc1'

261812

Institutional Source

Beutler Lab

Gene Symbol

Disc1

Ensembl Gene

ENSMUSG00000043051

Gene Name

disrupted in schizophrenia 1

Synonyms

MMRRC Submission

038543-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.326) question?

Stock #

R0334 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

125780934-125988597 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 125987836 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000074147
Gene: ENSMUSG00000043051

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 null
Transcript: ENSMUST00000075730

SMART Domains

Protein: ENSMUSP00000075145
Gene: ENSMUSG00000043051

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 null
Transcript: ENSMUST00000098311

SMART Domains

Protein: ENSMUSP00000095914
Gene: ENSMUSG00000043051

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 null
Transcript: ENSMUST00000115885

SMART Domains

Protein: ENSMUSP00000111552
Gene: ENSMUSG00000043051

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 null
Transcript: ENSMUST00000117658

SMART Domains

Protein: ENSMUSP00000112757
Gene: ENSMUSG00000043051

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 null
Transcript: ENSMUST00000118942

SMART Domains

Protein: ENSMUSP00000112410
Gene: ENSMUSG00000043051

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 null
Transcript: ENSMUST00000121953

SMART Domains

Protein: ENSMUSP00000112929
Gene: ENSMUSG00000043051

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.6%

Validation Efficiency

99% (68/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,508,105 (GRCm39)	N87S	probably benign	Het
Ap2b1	T	C	11: 83,258,700 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,468,029 (GRCm39)	Y1724H	probably damaging	Het
Arhgef10l	G	A	4: 140,311,237 (GRCm39)	Q243*	probably null	Het
Atp8a2	A	T	14: 59,928,961 (GRCm39)	F1031Y	probably damaging	Het
Bmp8b	A	G	4: 123,008,553 (GRCm39)		probably null	Het
Brinp2	G	T	1: 158,123,155 (GRCm39)	T37K	probably benign	Het
Bsph1	T	A	7: 13,184,864 (GRCm39)	L9*	probably null	Het
C6	T	G	15: 4,784,849 (GRCm39)	N238K	probably benign	Het
Cbs	T	C	17: 31,838,130 (GRCm39)	D373G	probably damaging	Het
Clec4a3	T	C	6: 122,946,329 (GRCm39)	F191S	possibly damaging	Het
Cpz	A	G	5: 35,661,025 (GRCm39)	V530A	probably damaging	Het
Ctsc	G	T	7: 87,927,550 (GRCm39)	S47I	possibly damaging	Het
Cyp7b1	T	G	3: 18,157,960 (GRCm39)	Y53S	probably damaging	Het
Dach1	C	T	14: 98,406,184 (GRCm39)	G188R	probably damaging	Het
Defb4	T	C	8: 19,251,220 (GRCm39)	I29T	probably benign	Het
Dnah2	A	G	11: 69,327,662 (GRCm39)	M3429T	probably damaging	Het
Dnah7a	A	T	1: 53,472,213 (GRCm39)	I3518N	possibly damaging	Het
Dnah8	A	T	17: 31,090,325 (GRCm39)	H4609L	probably damaging	Het
Evi5	C	A	5: 107,968,401 (GRCm39)	C182F	probably damaging	Het
Fam149b	G	A	14: 20,413,492 (GRCm39)	R237H	probably damaging	Het
Fut8	T	A	12: 77,440,536 (GRCm39)	D174E	possibly damaging	Het
Ghr	T	C	15: 3,370,580 (GRCm39)		probably benign	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gpr176	T	C	2: 118,110,189 (GRCm39)	S357G	probably benign	Het
Grwd1	A	T	7: 45,476,601 (GRCm39)		probably null	Het
H2-T24	A	G	17: 36,325,772 (GRCm39)	V273A	possibly damaging	Het
Hdac4	A	C	1: 91,883,760 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,895,802 (GRCm39)	T1017A	probably damaging	Het
Hsd11b1	T	C	1: 192,924,476 (GRCm39)		probably benign	Het
Igsf23	T	C	7: 19,675,678 (GRCm39)	S143G	probably benign	Het
Kbtbd12	T	A	6: 88,594,888 (GRCm39)	Y314F	probably damaging	Het
Kcnmb2	A	G	3: 32,252,508 (GRCm39)		probably null	Het
Kdm5b	A	G	1: 134,532,260 (GRCm39)	I479M	probably damaging	Het
Kidins220	A	G	12: 25,058,068 (GRCm39)	T600A	probably damaging	Het
Mrgprb2	A	C	7: 48,202,077 (GRCm39)	I216S	probably damaging	Het
Muc21	A	G	17: 35,933,614 (GRCm39)		probably benign	Het
Myo1g	A	G	11: 6,461,084 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 89,780,412 (GRCm39)		probably null	Het
Or2ag2	A	G	7: 106,485,622 (GRCm39)	V134A	probably benign	Het
Or8b54	A	T	9: 38,686,535 (GRCm39)		probably null	Het
Or8g26	A	G	9: 39,095,980 (GRCm39)	I169V	probably benign	Het
Pdia5	A	T	16: 35,284,760 (GRCm39)	S66T	possibly damaging	Het
Plec	T	C	15: 76,062,206 (GRCm39)	E2604G	probably damaging	Het
Plekha6	G	T	1: 133,209,918 (GRCm39)	A654S	probably benign	Het
Pnpla2	G	A	7: 141,039,433 (GRCm39)		probably null	Het
Pramel19	T	C	4: 101,798,781 (GRCm39)	F251L	probably benign	Het
Prb1c	T	A	6: 132,341,021 (GRCm39)	Q17L	unknown	Het
Prkdc	A	G	16: 15,554,663 (GRCm39)	D2128G	probably benign	Het
Rabggta	A	T	14: 55,958,268 (GRCm39)	L131Q	probably damaging	Het
Rbks	A	T	5: 31,781,863 (GRCm39)	Y312*	probably null	Het
Rnf139	A	G	15: 58,771,322 (GRCm39)	Y449C	probably damaging	Het
Sanbr	A	G	11: 23,567,129 (GRCm39)		probably benign	Het
Sbno1	A	G	5: 124,524,931 (GRCm39)	V1058A	possibly damaging	Het
Sema3a	A	T	5: 13,607,268 (GRCm39)	N321I	probably damaging	Het
Slit3	T	A	11: 35,469,928 (GRCm39)	V310E	probably damaging	Het
Slitrk5	T	C	14: 111,918,256 (GRCm39)	S627P	probably benign	Het
Stat2	T	A	10: 128,113,736 (GRCm39)	F172I	probably damaging	Het
Tchh	C	A	3: 93,352,923 (GRCm39)	R788S	unknown	Het
Tnks	T	A	8: 35,320,413 (GRCm39)	K753*	probably null	Het
Trank1	T	A	9: 111,194,421 (GRCm39)	V815D	probably benign	Het
Trank1	T	A	9: 111,222,008 (GRCm39)	I2915N	probably damaging	Het
Trpc6	T	C	9: 8,610,344 (GRCm39)	S271P	probably damaging	Het
Trpm5	T	C	7: 142,640,613 (GRCm39)	Q213R	probably benign	Het
Ulk3	C	T	9: 57,501,510 (GRCm39)		probably benign	Het
Usp31	T	C	7: 121,258,185 (GRCm39)	D694G	probably damaging	Het
Wnt3a	A	G	11: 59,147,144 (GRCm39)	S181P	probably damaging	Het
Yipf3	T	C	17: 46,559,238 (GRCm39)	F22S	possibly damaging	Het
Zbtb40	A	T	4: 136,713,867 (GRCm39)	H1094Q	probably damaging	Het

Other mutations in Disc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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

Posted On

2015-02-04