Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01319:Disc1'

73993

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Disc1

Ensembl Gene

ENSMUSG00000043051

Gene Name

disrupted in schizophrenia 1

Synonyms

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

IGL01319

Quality Score

Status

Chromosome

Chromosomal Location

125054195-125261858 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125087891 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 165 (S165P)

Ref Sequence

ENSEMBL: ENSMUSP00000112593 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000074562
AA Change: S165P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074147
Gene: ENSMUSG00000043051
AA Change: S165P

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 damaging
Transcript: ENSMUST00000075730
AA Change: S165P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000075145
Gene: ENSMUSG00000043051
AA Change: S165P

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 damaging
Transcript: ENSMUST00000098311
AA Change: S165P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095914
Gene: ENSMUSG00000043051
AA Change: S165P

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

possibly damaging
Transcript: ENSMUST00000115885
AA Change: S165P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111552
Gene: ENSMUSG00000043051
AA Change: S165P

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 damaging
Transcript: ENSMUST00000117658
AA Change: S165P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112757
Gene: ENSMUSG00000043051
AA Change: S165P

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 damaging
Transcript: ENSMUST00000118942
AA Change: S165P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112410
Gene: ENSMUSG00000043051
AA Change: S165P

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 damaging
Transcript: ENSMUST00000121953
AA Change: S163P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112929
Gene: ENSMUSG00000043051
AA Change: S163P

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 damaging
Transcript: ENSMUST00000122389
AA Change: S165P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112593
Gene: ENSMUSG00000043051
AA Change: S165P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126111

Coding Region Coverage

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,933,642	V307E	probably benign	Het
Bub1b	T	C	2: 118,614,994	I265T	possibly damaging	Het
Cntnap3	G	A	13: 64,787,837	T404I	probably damaging	Het
Dock1	T	C	7: 134,789,278	F756L	probably benign	Het
Dock2	A	G	11: 34,698,790	V480A	possibly damaging	Het
Drc3	A	G	11: 60,364,962	D125G	probably null	Het
Emid1	C	T	11: 5,143,859	C96Y	probably damaging	Het
F13b	A	G	1: 139,506,793	N99S	probably damaging	Het
Fam20a	A	G	11: 109,678,458		probably benign	Het
Fancd2	C	A	6: 113,584,899	T1243K	probably damaging	Het
Fbxw14	T	C	9: 109,278,791	K172E	probably damaging	Het
Gm13941	T	C	2: 111,094,805		probably null	Het
Gtpbp4	A	T	13: 8,985,260	N354K	probably benign	Het
Igkv2-116	T	C	6: 68,152,404	L50P	probably benign	Het
Klrb1-ps1	C	T	6: 129,116,585	P23L	possibly damaging	Het
Kng2	T	A	16: 23,028,834	I26F	probably damaging	Het
Krt81	G	A	15: 101,463,388	H104Y	probably benign	Het
Lrpprc	T	C	17: 84,705,412		probably benign	Het
Man2a2	C	T	7: 80,361,132	V704M	possibly damaging	Het
Mbip	A	G	12: 56,330,242	V303A	probably benign	Het
Mipep	A	T	14: 60,843,271	M571L	probably benign	Het
Ncan	A	T	8: 70,097,562	V1188D	probably damaging	Het
Pcdhb4	T	C	18: 37,308,513	V292A	probably benign	Het
Pkd1	T	C	17: 24,587,919		probably benign	Het
Ppp2r2c	T	A	5: 36,947,121	S282T	possibly damaging	Het
Rad54l2	C	T	9: 106,719,046	G231D	probably benign	Het
Rnf20	T	G	4: 49,649,326	D443E	probably damaging	Het
Rptor	A	G	11: 119,891,170	M1108V	probably benign	Het
Serpine2	A	G	1: 79,810,694	V182A	probably damaging	Het
Sesn2	C	T	4: 132,499,967		probably benign	Het
Shank1	C	A	7: 44,353,123	A1422E	possibly damaging	Het
Slc13a4	C	T	6: 35,307,353		probably null	Het
Snrnp200	T	C	2: 127,230,127		probably benign	Het
Src	G	A	2: 157,469,503	G461R	probably damaging	Het
Tbxas1	A	G	6: 39,017,973	I178V	probably benign	Het
Tmem2	C	T	19: 21,844,757	P1172L	possibly damaging	Het
Triml1	A	G	8: 43,141,397		probably benign	Het
Tsen2	A	T	6: 115,576,984	Q441L	probably damaging	Het
Ttc23l	A	G	15: 10,509,406		probably benign	Het
Ttc37	A	G	13: 76,129,379	H491R	probably benign	Het
Ttn	T	C	2: 76,881,304		probably benign	Het
Vsig10l	C	T	7: 43,465,254	S293L	probably damaging	Het
Zcchc13	C	A	X: 103,631,000	Q110K	possibly damaging	Het

Other mutations in Disc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Disc1	APN	8	125088275	missense	probably benign	0.27
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
R7757:Disc1	UTSW	8	125087504	missense	probably benign	0.03
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

Posted On

2013-10-07