Mutagenetix > Incidental Mutation

Incidental Mutation 'R4825:Disc1'

371410

Institutional Source

Beutler Lab

Gene Symbol

Disc1

Ensembl Gene

ENSMUSG00000043051

Gene Name

disrupted in schizophrenia 1

Synonyms

MMRRC Submission

042441-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.290) question?

Stock #

R4825 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125054195-125261858 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125135302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 471 (M471K)

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 benign
Transcript: ENSMUST00000074562
AA Change: M473K

PolyPhen 2 Score 0.379 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000074147
Gene: ENSMUSG00000043051
AA Change: M473K

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: ENSMUST00000075730
AA Change: M473K

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000075145
Gene: ENSMUSG00000043051
AA Change: M473K

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

possibly damaging
Transcript: ENSMUST00000098311
AA Change: M473K

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000095914
Gene: ENSMUSG00000043051
AA Change: M473K

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: M473K

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000111552
Gene: ENSMUSG00000043051
AA Change: M473K

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

possibly damaging
Transcript: ENSMUST00000117658
AA Change: M473K

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112757
Gene: ENSMUSG00000043051
AA Change: M473K

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

possibly damaging
Transcript: ENSMUST00000118942
AA Change: M473K

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000112410
Gene: ENSMUSG00000043051
AA Change: M473K

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: ENSMUST00000121953
AA Change: M471K

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112929
Gene: ENSMUSG00000043051
AA Change: M471K

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: 98.4%
10x: 96.8%
20x: 93.8%

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: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	C	A	11: 109,791,672	L229F	probably benign	Het
A930002H24Rik	A	C	17: 63,863,608	S62A	unknown	Het
Abca12	T	A	1: 71,302,685	Q1039L	possibly damaging	Het
Adgrg5	T	A	8: 94,941,734	F476I	possibly damaging	Het
AI314180	G	A	4: 58,850,911	L421F	probably damaging	Het
Alms1	A	G	6: 85,678,245	K2789E	probably damaging	Het
Arrdc2	G	A	8: 70,839,277		probably null	Het
Atp2b1	T	A	10: 99,009,564	I743K	probably damaging	Het
Atp6v1c2	C	T	12: 17,289,060	G230D	probably benign	Het
AU040320	G	A	4: 126,791,793	C54Y	probably damaging	Het
BC024139	C	T	15: 76,120,317	V680I	possibly damaging	Het
Bckdhb	A	G	9: 83,988,905	D156G	probably damaging	Het
Canx	T	A	11: 50,308,809	D143V	probably benign	Het
Ccdc180	T	A	4: 45,912,794	V591E	possibly damaging	Het
Ccno	T	C	13: 112,988,099	S68P	probably benign	Het
Cdc45	C	T	16: 18,784,863	E527K	probably damaging	Het
Cep290	T	A	10: 100,488,348	D14E	probably damaging	Het
Cgnl1	A	G	9: 71,630,524	V1238A	probably benign	Het
Ciz1	C	T	2: 32,371,741	A455V	probably damaging	Het
Coro2b	T	A	9: 62,454,623	Y86F	probably benign	Het
Csf2ra	C	T	19: 61,226,552	R158Q	probably benign	Het
Cubn	A	T	2: 13,325,225	I2615N	probably damaging	Het
Dhx8	C	T	11: 101,738,170	R129*	probably null	Het
Dmxl2	G	T	9: 54,404,041	L1799I	probably benign	Het
Dnah2	A	G	11: 69,423,205	S4108P	probably damaging	Het
Ehmt2	C	G	17: 34,906,964	P211R	probably benign	Het
Eif4g3	A	G	4: 138,194,081	D1557G	probably benign	Het
Epha5	T	C	5: 84,233,840	D384G	probably damaging	Het
Etl4	A	G	2: 20,806,927	I1274V	probably damaging	Het
Fam160a1	G	A	3: 85,673,432	P489S	possibly damaging	Het
Fip1l1	G	A	5: 74,588,205		probably null	Het
Fubp1	T	C	3: 152,217,890		probably null	Het
Glul	T	C	1: 153,903,044	V33A	probably benign	Het
Gm4846	A	G	1: 166,491,668	F167S	probably damaging	Het
Heatr6	T	A	11: 83,758,322	L168M	probably damaging	Het
Hif1a	T	A	12: 73,932,401	I233N	probably damaging	Het
Hivep2	T	A	10: 14,131,319	H1220Q	possibly damaging	Het
Igkv8-21	T	C	6: 70,315,426	I9M	probably benign	Het
Izumo1	T	A	7: 45,624,987	C62*	probably null	Het
Jakmip3	G	A	7: 139,026,766	E424K	probably damaging	Het
Klhl2	A	G	8: 64,752,813	V358A	probably damaging	Het
Klk10	C	G	7: 43,783,598	D139E	probably damaging	Het
Klk14	T	C	7: 43,692,076	C51R	probably damaging	Het
Klk5	T	G	7: 43,845,390	I99S	probably damaging	Het
L3hypdh	T	C	12: 72,077,393	T258A	probably benign	Het
Lrp5	A	G	19: 3,614,292	Y812H	probably damaging	Het
Lrrc40	T	A	3: 158,061,330	L474*	probably null	Het
Mkks	A	T	2: 136,880,655	M194K	probably benign	Het
Mmp20	A	G	9: 7,654,120	D347G	probably damaging	Het
Mmp27	A	G	9: 7,581,194	E460G	probably damaging	Het
Mms22l	T	C	4: 24,536,226	F605S	probably damaging	Het
Mpzl3	A	G	9: 45,068,329	S193G	probably benign	Het
Muc4	A	T	16: 32,751,747	T542S	probably benign	Het
Muc5b	T	C	7: 141,868,465	L4446P	possibly damaging	Het
Mxi1	C	A	19: 53,370,338	S131*	probably null	Het
Nanog	G	T	6: 122,713,340	A210S	probably benign	Het
Nrcam	C	T	12: 44,575,986	Q988*	probably null	Het
Nsg1	C	A	5: 38,159,047		probably benign	Het
Ogfod3	G	A	11: 121,195,201	A189V	probably benign	Het
Olfr1121	T	A	2: 87,372,088	C185*	probably null	Het
Olfr1228	T	C	2: 89,248,690		probably null	Het
Olfr1240	A	G	2: 89,439,865	V138A	probably benign	Het
Olfr1260	G	A	2: 89,978,153	C125Y	probably damaging	Het
Olfr1465	A	T	19: 13,314,320		probably null	Het
Olfr548-ps1	T	A	7: 102,542,380	V148E	possibly damaging	Het
Olfr58	T	G	9: 19,783,576	S148A	possibly damaging	Het
Olfr632	T	C	7: 103,937,503	V41A	probably benign	Het
Olfr920	A	T	9: 38,756,407	T240S	probably damaging	Het
Olfr980	A	T	9: 40,006,742	M69K	possibly damaging	Het
Orc3	A	T	4: 34,571,774	M665K	possibly damaging	Het
Pabpc1	A	G	15: 36,597,011	S591P	probably damaging	Het
Parp6	T	A	9: 59,624,362		probably null	Het
Pcdh1	T	C	18: 38,189,859	M974V	possibly damaging	Het
Pcdhb22	T	A	18: 37,520,660	V727E	possibly damaging	Het
Pex5l	T	C	3: 32,992,985	E272G	probably damaging	Het
Pglyrp2	G	T	17: 32,418,261	N264K	probably benign	Het
Phxr4	T	A	9: 13,431,586		probably benign	Het
Piezo2	A	G	18: 63,144,954	F293S	probably damaging	Het
Pkhd1	T	C	1: 20,537,401	D1077G	probably damaging	Het
Plekhs1	A	G	19: 56,473,268		probably null	Het
Prex1	G	T	2: 166,585,857	C788*	probably null	Het
Prrt3	A	T	6: 113,498,138	M41K	probably benign	Het
Ptgir	T	C	7: 16,908,843	V326A	probably damaging	Het
Ptprg	T	A	14: 12,220,654	D455E	probably damaging	Het
Ptpru	T	A	4: 131,799,603	Q686L	probably benign	Het
Pxdc1	G	T	13: 34,630,360	T190K	probably benign	Het
Rap1b	A	T	10: 117,818,582	C118S	probably benign	Het
Rapgef2	T	C	3: 79,083,227	M915V	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rpe65	C	T	3: 159,624,681	A495V	probably benign	Het
Samd15	A	G	12: 87,200,834	T98A	possibly damaging	Het
Sdk1	T	G	5: 141,582,294	D82E	probably benign	Het
Slc26a7	T	C	4: 14,546,309	D340G	probably benign	Het
Slc6a15	T	A	10: 103,418,060	M619K	probably benign	Het
Slc7a4	C	A	16: 17,574,521	D350Y	probably damaging	Het
Slk	T	G	19: 47,619,956	N449K	probably benign	Het
Spta1	A	T	1: 174,244,042		probably null	Het
Sptbn5	A	T	2: 120,055,893		probably benign	Het
Srd5a2	A	T	17: 74,047,805	V8D	probably benign	Het
Srgap3	G	A	6: 112,727,310	A906V	probably benign	Het
Stab2	A	T	10: 86,947,147	M679K	probably benign	Het
Stk3	T	C	15: 34,999,908	I291V	probably benign	Het
Supt6	T	A	11: 78,208,134	Q1637L	possibly damaging	Het
Svil	T	C	18: 5,114,564	F2047S	probably damaging	Het
Swsap1	A	G	9: 21,955,988	E76G	probably benign	Het
Syndig1	G	T	2: 149,899,553	G20C	probably damaging	Het
Synj2bp	A	T	12: 81,502,152	N104K	probably damaging	Het
Synpo2	T	A	3: 123,114,419	D416V	probably damaging	Het
Tacc3	G	T	5: 33,672,013	C620F	probably damaging	Het
Tanc1	A	G	2: 59,699,422	E19G	probably damaging	Het
Tarsl2	C	T	7: 65,647,554	A139V	probably benign	Het
Tbc1d22a	T	A	15: 86,351,734	C365S	probably damaging	Het
Tdpoz2	T	C	3: 93,652,074	H197R	possibly damaging	Het
Tha1	A	T	11: 117,869,379	N300K	probably damaging	Het
Tm6sf1	T	A	7: 81,865,260	F70L	probably damaging	Het
Tmem132b	T	A	5: 125,783,433	S581T	probably benign	Het
Tmem206	A	T	1: 191,340,843	I154F	probably damaging	Het
Tnfsf13	G	T	11: 69,685,249	S4*	probably null	Het
Tonsl	G	A	15: 76,633,248	S757L	probably benign	Het
Trem2	G	T	17: 48,351,691	R161S	possibly damaging	Het
Trpm2	A	T	10: 77,941,173	V430E	probably damaging	Het
Ttc14	T	A	3: 33,801,369	D154E	possibly damaging	Het
Ugt2b37	T	C	5: 87,250,639	M313V	possibly damaging	Het
Uhrf1bp1	G	A	17: 27,877,394	A107T	probably damaging	Het
Vmn2r24	A	G	6: 123,815,780	I689V	probably benign	Het
Wdr76	A	G	2: 121,542,494	T601A	probably benign	Het
Xirp1	T	C	9: 120,017,003	D938G	possibly damaging	Het
Zfp608	A	T	18: 54,897,969	D966E	probably benign	Het
Zfp957	A	G	14: 79,214,356	M1T	probably null	Het
Zkscan16	A	T	4: 58,957,809	H697L	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
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
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
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'- CAGCAAACTTCTGGAATCTGCC -3'
(R):5'- GAAAGTCACCAGTACCTCCTG -3'

Sequencing Primer
(F):5'- AATCTGCCTGCCTCGGAAG -3'
(R):5'- ACCTGGAAGGGAGCCTG -3'

Posted On

2016-03-01