Mutagenetix > Incidental Mutation

Incidental Mutation 'R9599:Disc1'

723459

Institutional Source

Beutler Lab

Gene Symbol

Disc1

Ensembl Gene

ENSMUSG00000043051

Gene Name

disrupted in schizophrenia 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9599 (G1)

Quality Score

214.009

Status

Not validated

Chromosome

Chromosomal Location

125780934-125988597 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125814261 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 42 (M42L)

Ref Sequence

ENSEMBL: ENSMUSP00000095914 (fasta)

Gene Model

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

AlphaFold

Q811T9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074562
AA Change: M42L

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074147
Gene: ENSMUSG00000043051
AA Change: M42L

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: M42L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000075145
Gene: ENSMUSG00000043051
AA Change: M42L

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: M42L

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000095914
Gene: ENSMUSG00000043051
AA Change: M42L

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: M42L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000111552
Gene: ENSMUSG00000043051
AA Change: M42L

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: M42L

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000112757
Gene: ENSMUSG00000043051
AA Change: M42L

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: M42L

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112410
Gene: ENSMUSG00000043051
AA Change: M42L

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: M40L

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000112929
Gene: ENSMUSG00000043051
AA Change: M40L

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 benign
Transcript: ENSMUST00000122389
AA Change: M42L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112593
Gene: ENSMUSG00000043051
AA Change: M42L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

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
1110002E22Rik	A	G	3: 137,774,267 (GRCm39)	N1152S	probably benign	Het
Abcb6	A	T	1: 75,151,372 (GRCm39)	Y518N	possibly damaging	Het
Actr2	G	A	11: 20,030,745 (GRCm39)	P168S	probably damaging	Het
Adam12	A	G	7: 133,566,454 (GRCm39)	V332A	probably damaging	Het
Adam23	T	C	1: 63,620,359 (GRCm39)	I805T	probably benign	Het
Adar	A	G	3: 89,654,516 (GRCm39)	T883A	probably benign	Het
Aldh3a1	A	G	11: 61,107,912 (GRCm39)	T319A	probably damaging	Het
Apcdd1	T	A	18: 63,083,269 (GRCm39)		probably null	Het
Arhgef18	C	A	8: 3,482,718 (GRCm39)	A141E	possibly damaging	Het
Bub3	A	G	7: 131,170,428 (GRCm39)	T317A	probably benign	Het
Ccdc102a	A	G	8: 95,639,901 (GRCm39)	L131P	probably damaging	Het
Ccdc60	C	A	5: 116,269,265 (GRCm39)	D452Y	probably damaging	Het
Ccdc66	T	C	14: 27,219,381 (GRCm39)	E125G	probably damaging	Het
Ccdc68	A	G	18: 70,093,492 (GRCm39)	E233G	probably damaging	Het
Cep192	A	G	18: 67,968,525 (GRCm39)	D973G	probably benign	Het
Cox5b	T	A	1: 36,730,759 (GRCm39)	M31K	probably benign	Het
Cse1l	A	G	2: 166,783,386 (GRCm39)	N780S	probably benign	Het
Cyfip1	T	C	7: 55,563,277 (GRCm39)		probably null	Het
Cyp1a1	C	T	9: 57,607,770 (GRCm39)	P133S	probably benign	Het
Dcp1a	A	G	14: 30,241,497 (GRCm39)	M436V	probably benign	Het
Dcst1	G	T	3: 89,265,075 (GRCm39)	Y258*	probably null	Het
Dhx30	T	C	9: 109,914,518 (GRCm39)	E993G	possibly damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Entrep3	A	G	3: 89,094,099 (GRCm39)	D304G	possibly damaging	Het
Erbb2	A	T	11: 98,318,216 (GRCm39)	D484V	probably benign	Het
Fxr2	A	G	11: 69,543,469 (GRCm39)	N657D	probably benign	Het
Gbx2	T	C	1: 89,856,635 (GRCm39)	T252A	probably damaging	Het
Gdap2	A	T	3: 100,078,264 (GRCm39)	N76I	probably damaging	Het
Gm20939	A	G	17: 95,184,666 (GRCm39)	Y438C	probably damaging	Het
Gsdma2	A	G	11: 98,540,459 (GRCm39)	E126G	possibly damaging	Het
Gsg1	T	G	6: 135,217,098 (GRCm39)	H246P	probably damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Ighv1-62-1	T	C	12: 115,350,601 (GRCm39)	Q22R	possibly damaging	Het
Kcng3	A	T	17: 83,895,211 (GRCm39)	F418L	probably benign	Het
Lin54	C	A	5: 100,598,546 (GRCm39)	R593L	probably damaging	Het
Lrp1	T	A	10: 127,410,246 (GRCm39)	N1500I	probably damaging	Het
Lvrn	A	C	18: 46,999,494 (GRCm39)	S287R	probably benign	Het
Mab21l4	T	C	1: 93,087,568 (GRCm39)	E95G	possibly damaging	Het
Madd	G	A	2: 91,006,026 (GRCm39)	P390S	probably damaging	Het
Mapk8ip3	C	A	17: 25,118,124 (GRCm39)	R1281L	probably damaging	Het
Masp1	T	A	16: 23,271,698 (GRCm39)	T618S	probably benign	Het
Mgat5	A	G	1: 127,248,445 (GRCm39)	T116A	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrpl39	A	G	16: 84,527,359 (GRCm39)	F176S	probably damaging	Het
Myt1l	T	C	12: 29,943,441 (GRCm39)	I953T	unknown	Het
Nedd4l	A	G	18: 65,343,400 (GRCm39)	H820R	probably damaging	Het
Nxpe3	A	T	16: 55,664,855 (GRCm39)	V455D	probably damaging	Het
Olfm4	T	C	14: 80,243,747 (GRCm39)	F105S	probably damaging	Het
Or10ak8	C	T	4: 118,773,851 (GRCm39)	R271Q	probably benign	Het
Patz1	A	G	11: 3,240,720 (GRCm39)	N36S	probably benign	Het
Peg3	T	A	7: 6,714,723 (GRCm39)	K166N	probably damaging	Het
Pes1	T	A	11: 3,926,118 (GRCm39)	D302E	probably benign	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Plekhh3	G	A	11: 101,054,972 (GRCm39)	T627M	unknown	Het
Plxnd1	C	T	6: 115,940,274 (GRCm39)	R1370Q	possibly damaging	Het
Rnf20	T	C	4: 49,638,751 (GRCm39)	V191A	probably benign	Het
Scn8a	A	T	15: 100,911,172 (GRCm39)	K864M	probably damaging	Het
Sema3c	T	C	5: 17,919,452 (GRCm39)		probably null	Het
Slc24a4	C	T	12: 102,097,779 (GRCm39)	T30I	probably benign	Het
Slc27a2	A	G	2: 126,420,904 (GRCm39)	D465G	probably damaging	Het
Snrnp48	T	C	13: 38,393,920 (GRCm39)	M75T	probably benign	Het
Srgap2	A	G	1: 131,272,164 (GRCm39)	S41P		Het
St3gal5	A	G	6: 72,130,580 (GRCm39)	T391A	probably benign	Het
Stkld1	T	C	2: 26,843,297 (GRCm39)	L628P	possibly damaging	Het
Tbc1d1	T	A	5: 64,502,701 (GRCm39)	M1074K	probably benign	Het
Tent2	G	T	13: 93,322,821 (GRCm39)	Q43K	probably benign	Het
Tpsb2	T	A	17: 25,586,077 (GRCm39)	Y98*	probably null	Het
Trav6d-3	G	A	14: 52,964,144 (GRCm39)	D36N	probably benign	Het
Trim16	A	G	11: 62,731,644 (GRCm39)	Y505C	probably damaging	Het
Ttpal	A	G	2: 163,457,458 (GRCm39)	D310G	probably benign	Het
Ubox5	A	G	2: 130,441,835 (GRCm39)	I284T	probably damaging	Het
Vmn2r45	T	A	7: 8,478,457 (GRCm39)		probably null	Het
Vmn2r67	T	C	7: 84,804,941 (GRCm39)	D57G	probably damaging	Het
Wdfy4	T	C	14: 32,855,428 (GRCm39)	T729A		Het
Wdr81	A	T	11: 75,344,349 (GRCm39)	M306K	probably benign	Het
Zfp62	A	G	11: 49,106,542 (GRCm39)	D211G	probably damaging	Het
Zfyve16	T	C	13: 92,636,763 (GRCm39)	K1316E	probably damaging	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
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
R9728:Disc1	UTSW	8	125,959,795 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TTGGATAGGTGTACCCACAGAG -3'
(R):5'- TTTTCTCATAGAGCGCTGGGC -3'

Sequencing Primer
(F):5'- TAGGTGTACCCACAGAGACCTG -3'
(R):5'- GCTCTTGAGAAAAGGCTTGCC -3'

Posted On

2022-08-09