Mutagenetix > Incidental Mutations

Incidental Mutation 'R1711:Disc1'

190577

Institutional Source

Beutler Lab

Gene Symbol

Disc1

Ensembl Gene

ENSMUSG00000043051

Gene Name

disrupted in schizophrenia 1

Synonyms

MMRRC Submission

039744-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.662) question?

Stock #

R1711 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

125054195-125261858 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125124610 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 413 (I413K)

Ref Sequence

ENSEMBL: ENSMUSP00000111552 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000074562
AA Change: I413K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000074147
Gene: ENSMUSG00000043051
AA Change: I413K

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: I413K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000075145
Gene: ENSMUSG00000043051
AA Change: I413K

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: I413K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000095914
Gene: ENSMUSG00000043051
AA Change: I413K

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: I413K

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000111552
Gene: ENSMUSG00000043051
AA Change: I413K

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: I413K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112757
Gene: ENSMUSG00000043051
AA Change: I413K

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: I413K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000112410
Gene: ENSMUSG00000043051
AA Change: I413K

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: I411K

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000112929
Gene: ENSMUSG00000043051
AA Change: I411K

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: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	T	13: 77,269,920	T741I	possibly damaging	Het
Acot3	A	T	12: 84,053,573	Q41L	probably damaging	Het
Actl7b	G	A	4: 56,740,165	Q398*	probably null	Het
Adgrb2	C	A	4: 129,992,624	Q186K	probably damaging	Het
Akr1a1	A	G	4: 116,637,974		probably null	Het
Ap3s2	A	T	7: 79,880,490	F192L	probably damaging	Het
Apobr	T	G	7: 126,584,979		probably null	Het
Arhgap5	A	G	12: 52,519,345	N1033S	probably damaging	Het
Arid3c	G	T	4: 41,725,947	R219S	probably damaging	Het
Bves	C	T	10: 45,347,865	T207M	probably damaging	Het
C330027C09Rik	A	C	16: 49,017,486	I850L	probably benign	Het
Cacna1d	T	C	14: 30,066,056	K1619R	probably damaging	Het
Caps2	A	T	10: 112,190,978	D223V	possibly damaging	Het
Cd163l1	G	T	7: 140,220,609	C101F	probably damaging	Het
Cd3g	A	C	9: 44,974,342	L35R	probably damaging	Het
Cdh23	A	T	10: 60,523,536	V261E	probably benign	Het
Cfap54	T	G	10: 93,011,020	T1028P	possibly damaging	Het
Ch25h	C	A	19: 34,474,286	V281L	probably benign	Het
Clu	G	T	14: 65,980,905	V405L	possibly damaging	Het
Col6a3	A	T	1: 90,830,213	H6Q	probably damaging	Het
Cps1	G	A	1: 67,168,374		probably null	Het
Ctr9	T	C	7: 111,055,663	S1134P	unknown	Het
Cts7	C	T	13: 61,352,810	G308S	probably damaging	Het
Cyp2c39	C	A	19: 39,566,891	T385K	probably damaging	Het
Dennd5a	A	T	7: 109,918,712	D596E	probably benign	Het
Dll3	C	T	7: 28,294,497	G505D	probably damaging	Het
Dnah3	A	G	7: 120,078,571	W377R	probably damaging	Het
Dopey2	A	G	16: 93,799,926	D1792G	probably damaging	Het
Dpep3	T	A	8: 105,973,693	R460S	probably benign	Het
Ebf4	A	G	2: 130,358,831	N302S	probably damaging	Het
Egflam	T	C	15: 7,289,915	E194G	possibly damaging	Het
Ep400	A	T	5: 110,693,308		probably benign	Het
Ercc6	T	C	14: 32,526,176	M228T	probably damaging	Het
Fbxo9	T	C	9: 78,087,247	T264A	probably damaging	Het
Fcrl5	C	A	3: 87,457,414	P486T	possibly damaging	Het
Fyb	T	C	15: 6,580,479	F178L	probably damaging	Het
Gaa	T	A	11: 119,280,460	I646N	probably damaging	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gm13124	A	T	4: 144,555,406	I272K	probably damaging	Het
Gm5431	A	T	11: 48,895,026	V174E	possibly damaging	Het
Gnpat	T	G	8: 124,886,952		probably null	Het
Gucy1a2	G	T	9: 3,759,622	R476I	probably benign	Het
Hars	A	G	18: 36,771,103	L241P	probably damaging	Het
Haus5	G	A	7: 30,657,903	Q399*	probably null	Het
Hephl1	T	C	9: 15,059,246	E984G	probably damaging	Het
Hmces	C	T	6: 87,921,592	Q132*	probably null	Het
Hsp90b1	G	T	10: 86,694,525	T490K	probably damaging	Het
Idh2	T	G	7: 80,099,158	E125A	probably damaging	Het
Ipo13	G	T	4: 117,904,522	H465Q	probably benign	Het
Isca2	C	A	12: 84,773,619	T31K	probably damaging	Het
Itga9	T	C	9: 118,698,461	V560A	probably benign	Het
Jhy	G	A	9: 40,911,157	Q562*	probably null	Het
Kcnj5	A	G	9: 32,322,569	I150T	probably damaging	Het
Kmt2a	A	G	9: 44,841,621	I1419T	unknown	Het
Lix1	T	C	17: 17,446,058	F160L	possibly damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Map4k1	A	T	7: 28,989,352	Q276L	possibly damaging	Het
Mmp9	G	A	2: 164,949,422	G171S	probably damaging	Het
Mvp	C	A	7: 126,995,735		probably null	Het
Mylk3	T	A	8: 85,364,831	E115V	probably damaging	Het
Nebl	T	A	2: 17,388,754	T603S	probably damaging	Het
Nudt15	T	C	14: 73,523,336	D105G	probably benign	Het
Olfr1369-ps1	G	A	13: 21,116,306	V205I	probably benign	Het
Olfr527	A	C	7: 140,335,999	T46P	possibly damaging	Het
Olfr556	G	T	7: 102,670,162	V81L	probably damaging	Het
Olfr65	T	A	7: 103,906,699	W87R	probably damaging	Het
Olfr685	A	T	7: 105,180,760	H199Q	probably damaging	Het
Olfr971	A	G	9: 39,840,285	M284V	probably benign	Het
Osbpl9	A	T	4: 109,066,218	C495S	probably damaging	Het
Pamr1	A	G	2: 102,640,852	T507A	probably benign	Het
Pcdhb9	T	A	18: 37,403,327	C791*	probably null	Het
Pcgf6	T	C	19: 47,050,518	E101G	probably damaging	Het
Pdgfrl	A	T	8: 40,985,794	I256F	probably benign	Het
Pdzd7	T	C	19: 45,045,511	R45G	possibly damaging	Het
Pecr	C	T	1: 72,277,409	V46I	possibly damaging	Het
Pgr	A	G	9: 8,922,714		probably null	Het
Pik3c2a	A	T	7: 116,417,927	Y198*	probably null	Het
Pp2d1	T	A	17: 53,515,310	M243L	possibly damaging	Het
Ppp1r1a	T	A	15: 103,533,492	I50L	possibly damaging	Het
Proc	T	C	18: 32,127,406	D222G	probably benign	Het
Ptprq	T	A	10: 107,534,699	R2044*	probably null	Het
Ranbp2	T	C	10: 58,460,519	V326A	probably benign	Het
Reep6	T	A	10: 80,333,981	F122I	possibly damaging	Het
Rubcn	C	A	16: 32,843,101	R388S	probably damaging	Het
Rusc1	A	G	3: 89,089,293	L62P	probably damaging	Het
Satb2	T	C	1: 56,850,289	N423S	probably damaging	Het
Serpinb9d	A	G	13: 33,200,748	K236R	probably benign	Het
Slc4a7	A	G	14: 14,765,709	R680G	probably benign	Het
Slitrk1	T	A	14: 108,913,096	Y61F	probably benign	Het
Son	A	G	16: 91,660,226		probably benign	Het
Sparc	T	A	11: 55,395,776		probably null	Het
Spon2	A	G	5: 33,216,385	F194S	probably damaging	Het
Spta1	A	G	1: 174,241,042	E2136G	probably damaging	Het
Stat4	T	C	1: 52,106,925	S746P	probably damaging	Het
Stk31	T	A	6: 49,469,304	S958R	probably benign	Het
Stom	T	A	2: 35,315,917	I267F	probably damaging	Het
Stx12	A	T	4: 132,858,477	D197E	probably damaging	Het
Taok3	A	T	5: 117,255,926	N588I	possibly damaging	Het
Tgs1	A	G	4: 3,598,658	D657G	probably damaging	Het
Trim6	A	G	7: 104,232,837	T432A	probably damaging	Het
Trim72	C	G	7: 128,004,585	C34W	probably damaging	Het
Trpc4ap	A	T	2: 155,657,744	I286N	probably benign	Het
Ttn	A	G	2: 76,863,561	V321A	possibly damaging	Het
Utp4	T	A	8: 106,918,720	I583N	probably damaging	Het
Wdfy2	G	T	14: 62,944,097	M225I	probably benign	Het
Wfdc1	A	G	8: 119,681,037	T134A	probably benign	Het
Wnt9b	A	G	11: 103,732,128	S150P	probably damaging	Het
Zbtb46	A	T	2: 181,411,684	F412I	probably damaging	Het
Zc3h15	G	A	2: 83,661,148	R240H	probably benign	Het
Zfp11	A	T	5: 129,656,673	Y575N	probably benign	Het
Zfp687	T	C	3: 95,011,889	M191V	probably benign	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	synonymous	probably null
R0992:Disc1	UTSW	8	125088042	missense	probably damaging	1.00
R1654:Disc1	UTSW	8	125148465	missense	possibly damaging	0.90
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

Predicted Primers

PCR Primer
(F):5'- GGAAATAGCCCTCAGCCTTGAGTG -3'
(R):5'- CCATGTCAAACCGTCTGACTCAGC -3'

Sequencing Primer
(F):5'- CAGCCTTGAGTGGTCCAGATG -3'
(R):5'- GTTCCTCCAGATGATACCAGATGG -3'

Posted On

2014-05-14