Mutagenetix > Incidental Mutation

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

Essential gene?

Possibly non essential (E-score: 0.328) question?

Stock #

R1711 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

125780934-125988597 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125851349 bp (GRCm39)

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]

AlphaFold

Q811T9

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: 77,418,039 (GRCm39)	T741I	possibly damaging	Het
Aadacl4fm2	A	T	4: 144,281,976 (GRCm39)	I272K	probably damaging	Het
Acot3	A	T	12: 84,100,347 (GRCm39)	Q41L	probably damaging	Het
Actl7b	G	A	4: 56,740,165 (GRCm39)	Q398*	probably null	Het
Adgrb2	C	A	4: 129,886,417 (GRCm39)	Q186K	probably damaging	Het
Akr1a1	A	G	4: 116,495,171 (GRCm39)		probably null	Het
Ap3s2	A	T	7: 79,530,238 (GRCm39)	F192L	probably damaging	Het
Apobr	T	G	7: 126,184,151 (GRCm39)		probably null	Het
Arhgap5	A	G	12: 52,566,128 (GRCm39)	N1033S	probably damaging	Het
Arid3c	G	T	4: 41,725,947 (GRCm39)	R219S	probably damaging	Het
Bves	C	T	10: 45,223,961 (GRCm39)	T207M	probably damaging	Het
Cacna1d	T	C	14: 29,788,013 (GRCm39)	K1619R	probably damaging	Het
Caps2	A	T	10: 112,026,883 (GRCm39)	D223V	possibly damaging	Het
Cd3g	A	C	9: 44,885,640 (GRCm39)	L35R	probably damaging	Het
Cdh23	A	T	10: 60,359,315 (GRCm39)	V261E	probably benign	Het
Cfap54	T	G	10: 92,846,882 (GRCm39)	T1028P	probably damaging	Het
Ch25h	C	A	19: 34,451,686 (GRCm39)	V281L	probably benign	Het
Cip2a	A	C	16: 48,837,849 (GRCm39)	I850L	probably benign	Het
Clu	G	T	14: 66,218,354 (GRCm39)	V405L	possibly damaging	Het
Col6a3	A	T	1: 90,757,935 (GRCm39)	H6Q	probably damaging	Het
Cps1	G	A	1: 67,207,533 (GRCm39)		probably null	Het
Ctr9	T	C	7: 110,654,870 (GRCm39)	S1134P	unknown	Het
Cts7	C	T	13: 61,500,624 (GRCm39)	G308S	probably damaging	Het
Cyp2c39	C	A	19: 39,555,335 (GRCm39)	T385K	probably damaging	Het
Dennd5a	A	T	7: 109,517,919 (GRCm39)	D596E	probably benign	Het
Dll3	C	T	7: 27,993,922 (GRCm39)	G505D	probably damaging	Het
Dnah3	A	G	7: 119,677,794 (GRCm39)	W377R	probably damaging	Het
Dop1b	A	G	16: 93,596,814 (GRCm39)	D1792G	probably damaging	Het
Dpep3	T	A	8: 106,700,325 (GRCm39)	R460S	probably benign	Het
Ebf4	A	G	2: 130,200,751 (GRCm39)	N302S	probably damaging	Het
Efcab3	A	G	11: 104,611,514 (GRCm39)	K452R	probably benign	Het
Egflam	T	C	15: 7,319,396 (GRCm39)	E194G	possibly damaging	Het
Ep400	A	T	5: 110,841,174 (GRCm39)		probably benign	Het
Ercc6	T	C	14: 32,248,133 (GRCm39)	M228T	probably damaging	Het
Fbxo9	T	C	9: 77,994,529 (GRCm39)	T264A	probably damaging	Het
Fcrl5	C	A	3: 87,364,721 (GRCm39)	P486T	possibly damaging	Het
Fyb1	T	C	15: 6,609,960 (GRCm39)	F178L	probably damaging	Het
Gaa	T	A	11: 119,171,286 (GRCm39)	I646N	probably damaging	Het
Gm5431	A	T	11: 48,785,853 (GRCm39)	V174E	possibly damaging	Het
Gnpat	T	G	8: 125,613,691 (GRCm39)		probably null	Het
Gucy1a2	G	T	9: 3,759,622 (GRCm39)	R476I	probably benign	Het
Hars1	A	G	18: 36,904,156 (GRCm39)	L241P	probably damaging	Het
Haus5	G	A	7: 30,357,328 (GRCm39)	Q399*	probably null	Het
Hephl1	T	C	9: 14,970,542 (GRCm39)	E984G	probably damaging	Het
Hmces	C	T	6: 87,898,574 (GRCm39)	Q132*	probably null	Het
Hsp90b1	G	T	10: 86,530,389 (GRCm39)	T490K	probably damaging	Het
Idh2	T	G	7: 79,748,906 (GRCm39)	E125A	probably damaging	Het
Ipo13	G	T	4: 117,761,719 (GRCm39)	H465Q	probably benign	Het
Isca2	C	A	12: 84,820,393 (GRCm39)	T31K	probably damaging	Het
Itga9	T	C	9: 118,527,529 (GRCm39)	V560A	probably benign	Het
Jhy	G	A	9: 40,822,453 (GRCm39)	Q562*	probably null	Het
Kcnj5	A	G	9: 32,233,865 (GRCm39)	I150T	probably damaging	Het
Kmt2a	A	G	9: 44,752,918 (GRCm39)	I1419T	unknown	Het
Lix1	T	C	17: 17,666,320 (GRCm39)	F160L	possibly damaging	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Map4k1	A	T	7: 28,688,777 (GRCm39)	Q276L	possibly damaging	Het
Mmp9	G	A	2: 164,791,342 (GRCm39)	G171S	probably damaging	Het
Mvp	C	A	7: 126,594,907 (GRCm39)		probably null	Het
Mylk3	T	A	8: 86,091,460 (GRCm39)	E115V	probably damaging	Het
Nebl	T	A	2: 17,393,565 (GRCm39)	T603S	probably damaging	Het
Nudt15	T	C	14: 73,760,776 (GRCm39)	D105G	probably benign	Het
Or12j2	A	C	7: 139,915,912 (GRCm39)	T46P	possibly damaging	Het
Or2w1b	G	A	13: 21,300,476 (GRCm39)	V205I	probably benign	Het
Or51b6	T	A	7: 103,555,906 (GRCm39)	W87R	probably damaging	Het
Or52i2	G	T	7: 102,319,369 (GRCm39)	V81L	probably damaging	Het
Or52l1	A	T	7: 104,829,967 (GRCm39)	H199Q	probably damaging	Het
Or8g2b	A	G	9: 39,751,581 (GRCm39)	M284V	probably benign	Het
Osbpl9	A	T	4: 108,923,415 (GRCm39)	C495S	probably damaging	Het
Pamr1	A	G	2: 102,471,197 (GRCm39)	T507A	probably benign	Het
Pcdhb9	T	A	18: 37,536,380 (GRCm39)	C791*	probably null	Het
Pcgf6	T	C	19: 47,038,957 (GRCm39)	E101G	probably damaging	Het
Pdgfrl	A	T	8: 41,438,831 (GRCm39)	I256F	probably benign	Het
Pdzd7	T	C	19: 45,033,950 (GRCm39)	R45G	possibly damaging	Het
Pecr	C	T	1: 72,316,568 (GRCm39)	V46I	possibly damaging	Het
Pgr	A	G	9: 8,922,715 (GRCm39)		probably null	Het
Pik3c2a	A	T	7: 116,017,162 (GRCm39)	Y198*	probably null	Het
Pp2d1	T	A	17: 53,822,338 (GRCm39)	M243L	possibly damaging	Het
Ppp1r1a	T	A	15: 103,441,919 (GRCm39)	I50L	possibly damaging	Het
Proc	T	C	18: 32,260,459 (GRCm39)	D222G	probably benign	Het
Ptprq	T	A	10: 107,370,560 (GRCm39)	R2044*	probably null	Het
Ranbp2	T	C	10: 58,296,341 (GRCm39)	V326A	probably benign	Het
Reep6	T	A	10: 80,169,815 (GRCm39)	F122I	possibly damaging	Het
Rubcn	C	A	16: 32,663,471 (GRCm39)	R388S	probably damaging	Het
Rusc1	A	G	3: 88,996,600 (GRCm39)	L62P	probably damaging	Het
Satb2	T	C	1: 56,889,448 (GRCm39)	N423S	probably damaging	Het
Scart1	G	T	7: 139,800,522 (GRCm39)	C101F	probably damaging	Het
Serpinb9d	A	G	13: 33,384,731 (GRCm39)	K236R	probably benign	Het
Slc4a7	A	G	14: 14,765,709 (GRCm38)	R680G	probably benign	Het
Slitrk1	T	A	14: 109,150,528 (GRCm39)	Y61F	probably benign	Het
Son	A	G	16: 91,457,114 (GRCm39)		probably benign	Het
Sparc	T	A	11: 55,286,602 (GRCm39)		probably null	Het
Spon2	A	G	5: 33,373,729 (GRCm39)	F194S	probably damaging	Het
Spta1	A	G	1: 174,068,608 (GRCm39)	E2136G	probably damaging	Het
Stat4	T	C	1: 52,146,084 (GRCm39)	S746P	probably damaging	Het
Stk31	T	A	6: 49,446,238 (GRCm39)	S958R	probably benign	Het
Stom	T	A	2: 35,205,929 (GRCm39)	I267F	probably damaging	Het
Stx12	A	T	4: 132,585,788 (GRCm39)	D197E	probably damaging	Het
Taok3	A	T	5: 117,393,991 (GRCm39)	N588I	possibly damaging	Het
Tgs1	A	G	4: 3,598,658 (GRCm39)	D657G	probably damaging	Het
Trim6	A	G	7: 103,882,044 (GRCm39)	T432A	probably damaging	Het
Trim72	C	G	7: 127,603,757 (GRCm39)	C34W	probably damaging	Het
Trpc4ap	A	T	2: 155,499,664 (GRCm39)	I286N	probably benign	Het
Ttn	A	G	2: 76,693,905 (GRCm39)	V321A	possibly damaging	Het
Utp4	T	A	8: 107,645,352 (GRCm39)	I583N	probably damaging	Het
Wdfy2	G	T	14: 63,181,546 (GRCm39)	M225I	probably benign	Het
Wfdc1	A	G	8: 120,407,776 (GRCm39)	T134A	probably benign	Het
Wnt9b	A	G	11: 103,622,954 (GRCm39)	S150P	probably damaging	Het
Zbtb46	A	T	2: 181,053,477 (GRCm39)	F412I	probably damaging	Het
Zc3h15	G	A	2: 83,491,492 (GRCm39)	R240H	probably benign	Het
Zfp11	A	T	5: 129,733,737 (GRCm39)	Y575N	probably benign	Het
Zfp687	T	C	3: 94,919,200 (GRCm39)	M191V	probably benign	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
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
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

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