Mutagenetix > Incidental Mutation

Incidental Mutation 'R1654:Disc1'

188940

Institutional Source

Beutler Lab

Gene Symbol

Disc1

Ensembl Gene

ENSMUSG00000043051

Gene Name

disrupted in schizophrenia 1

Synonyms

MMRRC Submission

039690-MU

Accession Numbers

Essential gene?

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

Stock #

R1654 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125780934-125988597 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125875204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 558 (Q558L)

Ref Sequence

ENSEMBL: ENSMUSP00000112929 (fasta)

Gene Model

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

AlphaFold

Q811T9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074562
AA Change: Q560L

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074147
Gene: ENSMUSG00000043051
AA Change: Q560L

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: Q560L

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075145
Gene: ENSMUSG00000043051
AA Change: Q560L

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: Q560L

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095914
Gene: ENSMUSG00000043051
AA Change: Q560L

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: Q560L

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111552
Gene: ENSMUSG00000043051
AA Change: Q560L

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: Q560L

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112757
Gene: ENSMUSG00000043051
AA Change: Q560L

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: Q560L

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112410
Gene: ENSMUSG00000043051
AA Change: Q560L

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: Q558L

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112929
Gene: ENSMUSG00000043051
AA Change: Q558L

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: 96.5%
20x: 93.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	C	T	11: 109,688,225 (GRCm39)	S90N	probably benign	Het
Apc2	C	T	10: 80,137,676 (GRCm39)	T39I	possibly damaging	Het
Arfgef3	C	T	10: 18,500,896 (GRCm39)	R1118K	probably null	Het
Arhgef12	T	C	9: 42,908,956 (GRCm39)	D658G	possibly damaging	Het
Asph	G	T	4: 9,453,315 (GRCm39)	R736S	probably benign	Het
Bcas1	C	T	2: 170,191,166 (GRCm39)	G542E	probably damaging	Het
Brd8	A	T	18: 34,744,279 (GRCm39)	V183E	probably damaging	Het
C1rl	G	A	6: 124,470,869 (GRCm39)	G59E	probably damaging	Het
Cacna1i	C	A	15: 80,273,411 (GRCm39)	A1699D	probably damaging	Het
Card6	G	T	15: 5,128,214 (GRCm39)	Q1061K	probably benign	Het
Cd163	G	T	6: 124,294,540 (GRCm39)	C566F	probably damaging	Het
Cd84	C	T	1: 171,712,173 (GRCm39)	T263I	possibly damaging	Het
Cep63	T	C	9: 102,464,112 (GRCm39)	I740V	possibly damaging	Het
Chaf1b	C	A	16: 93,691,791 (GRCm39)	A279D	probably damaging	Het
Chsy3	A	T	18: 59,309,488 (GRCm39)	Y247F	probably damaging	Het
Cpxm1	G	A	2: 130,235,466 (GRCm39)	L509F	possibly damaging	Het
Dnah3	A	T	7: 119,525,672 (GRCm39)	L3894Q	probably damaging	Het
Dnmt1	G	T	9: 20,847,870 (GRCm39)	T105N	possibly damaging	Het
Dock6	A	T	9: 21,716,139 (GRCm39)	L1732Q	probably damaging	Het
Dsc2	T	C	18: 20,179,303 (GRCm39)	N255S	probably benign	Het
Dsel	A	T	1: 111,790,242 (GRCm39)	Y98N	probably damaging	Het
Enox1	T	A	14: 77,848,814 (GRCm39)	I375N	possibly damaging	Het
Epha4	T	A	1: 77,351,405 (GRCm39)		probably null	Het
Fktn	A	G	4: 53,761,220 (GRCm39)	I446V	probably benign	Het
Garin4	T	C	1: 190,895,678 (GRCm39)	R322G	probably benign	Het
Gm7361	G	T	5: 26,466,097 (GRCm39)	R153L	probably damaging	Het
Grin2c	C	T	11: 115,151,679 (GRCm39)	V94I	probably benign	Het
Kalrn	T	G	16: 33,796,108 (GRCm39)	L1222F	probably damaging	Het
Krt80	T	C	15: 101,249,590 (GRCm39)	K255E	probably damaging	Het
Lcn6	T	A	2: 25,570,787 (GRCm39)		probably null	Het
Lonp2	T	G	8: 87,358,078 (GRCm39)	L100V	probably damaging	Het
Lyn	G	A	4: 3,789,912 (GRCm39)	A482T	probably damaging	Het
Mapk4	A	G	18: 74,064,010 (GRCm39)	F404S	probably damaging	Het
Mast2	T	C	4: 116,173,747 (GRCm39)		probably null	Het
Medag	T	C	5: 149,345,600 (GRCm39)	Y94H	probably damaging	Het
Megf8	T	C	7: 25,037,911 (GRCm39)	L809P	possibly damaging	Het
Mgam	T	C	6: 40,734,421 (GRCm39)	S743P	probably damaging	Het
Mia2	C	A	12: 59,155,619 (GRCm39)	T445K	possibly damaging	Het
Mtcl3	A	T	10: 29,022,931 (GRCm39)		probably null	Het
Nars1	C	G	18: 64,645,120 (GRCm39)	A43P	probably damaging	Het
Nav3	T	C	10: 109,688,984 (GRCm39)	N431S	possibly damaging	Het
Ndufaf5	A	G	2: 140,019,220 (GRCm39)		probably null	Het
Nlrp1b	T	G	11: 71,072,124 (GRCm39)	E573A	probably damaging	Het
Nlrp3	T	C	11: 59,433,949 (GRCm39)	V4A	probably benign	Het
Or2y1d	G	A	11: 49,321,329 (GRCm39)	G9R	probably benign	Het
Or56b2	A	T	7: 104,337,420 (GRCm39)	Y66F	probably benign	Het
Or5ac15	T	C	16: 58,940,052 (GRCm39)	N127S	possibly damaging	Het
Pcdhb12	A	T	18: 37,569,754 (GRCm39)	D300V	probably damaging	Het
Pik3c2a	A	T	7: 115,968,083 (GRCm39)	C804S	probably benign	Het
Pkp4	A	T	2: 59,167,963 (GRCm39)	Q725L	probably damaging	Het
Ptpre	T	A	7: 135,255,657 (GRCm39)	S119T	probably benign	Het
Ptprk	G	A	10: 28,259,643 (GRCm39)	R361H	probably damaging	Het
Ptprr	T	C	10: 116,024,268 (GRCm39)	V193A	probably benign	Het
Rfx2	C	T	17: 57,115,263 (GRCm39)	A19T	probably benign	Het
Rgs4	T	A	1: 169,572,880 (GRCm39)	M19L	probably benign	Het
Rnf157	T	C	11: 116,249,541 (GRCm39)	H225R	probably damaging	Het
Rnf44	A	T	13: 54,829,592 (GRCm39)	D341E	possibly damaging	Het
Sct	T	A	7: 140,858,767 (GRCm39)	Q55L	probably damaging	Het
Sh3rf1	A	T	8: 61,814,779 (GRCm39)	H446L	possibly damaging	Het
Shisa3	A	T	5: 67,768,402 (GRCm39)	I101F	probably damaging	Het
Slc6a13	A	G	6: 121,313,885 (GRCm39)	I543V	probably benign	Het
Spef2	G	A	15: 9,634,738 (GRCm39)	A1024V	probably damaging	Het
St6galnac6	T	C	2: 32,509,521 (GRCm39)	S330P	probably damaging	Het
Stard9	G	T	2: 120,534,203 (GRCm39)	A3487S	probably benign	Het
Suclg2	T	C	6: 95,632,532 (GRCm39)	S46G	probably damaging	Het
Syne2	T	C	12: 76,147,868 (GRCm39)	V6469A	possibly damaging	Het
Tada2b	C	T	5: 36,641,139 (GRCm39)	G88D	probably damaging	Het
Tll1	A	T	8: 64,570,937 (GRCm39)		probably null	Het
Tph2	T	A	10: 115,020,712 (GRCm39)	H28L	probably benign	Het
Trmt6	C	A	2: 132,657,755 (GRCm39)	V34L	possibly damaging	Het
Ttc22	A	G	4: 106,491,408 (GRCm39)	T204A	probably damaging	Het
Umodl1	A	T	17: 31,206,942 (GRCm39)	M778L	probably benign	Het
Vcan	T	C	13: 89,810,065 (GRCm39)	H2282R	probably damaging	Het
Vmn2r77	T	A	7: 86,461,123 (GRCm39)	S816R	probably damaging	Het
Vps13c	T	A	9: 67,858,969 (GRCm39)	F2806L	probably damaging	Het
Zbtb4	C	A	11: 69,669,995 (GRCm39)	A906D	probably damaging	Het
Zscan29	A	G	2: 120,995,260 (GRCm39)	V421A	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
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

PCR Primer
(F):5'- ACTCCTCAGGTTATGGATGGTTTCCTC -3'
(R):5'- AGCACTTCCGGCAACATCCTTC -3'

Sequencing Primer
(F):5'- ATGGATGGTTTCCTCGGCAG -3'
(R):5'- gtcaataaagaaaacctacagccc -3'

Posted On

2014-05-09