Mutagenetix > Incidental Mutation

Incidental Mutation 'R4678:Mid1'

349820

Institutional Source

Beutler Lab

Gene Symbol

Mid1

Ensembl Gene

ENSMUSG00000035299

Gene Name

midline 1

Synonyms

Fxy, Trim18, 61B3-R, DXHXS1141

MMRRC Submission

041931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4678 (G1)

Quality Score

170

Status

Not validated

Chromosome

Chromosomal Location

168468178-168773794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 168768044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 130 (D130E)

Ref Sequence

ENSEMBL: ENSMUSP00000078412 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036753] [ENSMUST00000078947] [ENSMUST00000079443] [ENSMUST00000112104] [ENSMUST00000112105] [ENSMUST00000112107] [ENSMUST00000163810] [ENSMUST00000171433]

AlphaFold

O70583

Predicted Effect

probably benign
Transcript: ENSMUST00000036753
AA Change: D397E

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038765
Gene: ENSMUSG00000035299
AA Change: D397E

Domain	Start	End	E-Value	Type
RING	10	59	4.41e-6	SMART
BBOX	114	164	2.8e-8	SMART
BBOX	170	212	9.8e-13	SMART
BBC	219	345	1.5e-16	SMART
FN3	381	485	1.53e-6	SMART
Pfam:PRY	499	548	7.3e-11	PFAM
SPRY	551	670	1.12e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078947
AA Change: D359E

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000077974
Gene: ENSMUSG00000035299
AA Change: D359E

Domain	Start	End	E-Value	Type
RING	10	59	4.41e-6	SMART
BBOX	114	164	2.8e-8	SMART
BBC	181	307	1.47e-15	SMART
FN3	343	447	1.53e-6	SMART
Pfam:PRY	461	510	2.6e-11	PFAM
SPRY	513	632	1.12e-31	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079443
AA Change: D130E

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000078412
Gene: ENSMUSG00000035299
AA Change: D130E

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Blast:BBC	21	78	1e-29	BLAST
FN3	114	205	1.91e-7	SMART
Pfam:PRY	219	268	5.1e-11	PFAM
SPRY	271	390	1.12e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112104
AA Change: D397E

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107732
Gene: ENSMUSG00000035299
AA Change: D397E

Domain	Start	End	E-Value	Type
RING	10	59	4.41e-6	SMART
BBOX	114	164	2.8e-8	SMART
BBOX	170	212	9.8e-13	SMART
BBC	219	345	1.5e-16	SMART
FN3	381	485	1.53e-6	SMART
Pfam:PRY	499	548	7.3e-11	PFAM
SPRY	551	670	1.12e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112105
AA Change: D397E

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107733
Gene: ENSMUSG00000035299
AA Change: D397E

Domain	Start	End	E-Value	Type
RING	10	59	4.41e-6	SMART
BBOX	114	164	2.8e-8	SMART
BBOX	170	212	9.8e-13	SMART
BBC	219	345	1.5e-16	SMART
FN3	381	485	1.53e-6	SMART
Pfam:PRY	499	548	9.4e-12	PFAM
SPRY	551	670	1.12e-31	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112107
AA Change: D191E

PolyPhen 2 Score 0.575 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107735
Gene: ENSMUSG00000035299
AA Change: D191E

Domain	Start	End	E-Value	Type
BBC	13	139	5.05e-14	SMART
FN3	175	279	1.53e-6	SMART
Pfam:PRY	293	342	1.7e-11	PFAM
SPRY	345	464	1.12e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144738

Predicted Effect

probably benign
Transcript: ENSMUST00000163810
AA Change: D397E

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128176
Gene: ENSMUSG00000035299
AA Change: D397E

Domain	Start	End	E-Value	Type
RING	10	59	4.41e-6	SMART
BBOX	114	164	2.8e-8	SMART
BBOX	170	212	9.8e-13	SMART
BBC	219	345	1.5e-16	SMART
FN3	381	485	1.53e-6	SMART
Pfam:PRY	499	548	7.3e-11	PFAM
SPRY	551	670	1.12e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171433
AA Change: D397E

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000126746
Gene: ENSMUSG00000035299
AA Change: D397E

Domain	Start	End	E-Value	Type
RING	10	59	4.41e-6	SMART
BBOX	114	164	2.8e-8	SMART
BBOX	170	212	9.8e-13	SMART
BBC	219	345	1.5e-16	SMART
FN3	381	485	1.53e-6	SMART
Pfam:PRY	499	548	7.3e-11	PFAM
SPRY	551	670	1.12e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129642

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the tripartite motif (TRIM) family, also known as the 'RING-B box-coiled coil' (RBCC) subgroup of RING finger proteins. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein forms homodimers which associate with microtubules in the cytoplasm. The protein is likely involved in the formation of multiprotein structures acting as anchor points to microtubules. Mutations in this gene have been associated with the X-linked form of Opitz syndrome, which is characterized by midline abnormalities such as cleft lip, laryngeal cleft, heart defects, hypospadias, and agenesis of the corpus callosum. This gene was also the first example of a gene subject to X inactivation in human while escaping it in mouse. Alternative promoter use, alternative splicing and alternative polyadenylation result in multiple transcript variants that have different tissue specificities. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous or hemizygous for disruptions in this gene have a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	T	C	16: 88,860,873 (GRCm39)		probably benign	Het
Abcc4	A	G	14: 118,865,103 (GRCm39)	S308P	probably damaging	Het
Agr3	G	T	12: 35,997,832 (GRCm39)	V115L	probably damaging	Het
Ahr	A	T	12: 35,557,463 (GRCm39)	I319N	probably damaging	Het
Alpk1	A	T	3: 127,473,507 (GRCm39)	V832D	probably damaging	Het
Ano1	T	C	7: 144,223,289 (GRCm39)	T78A	probably benign	Het
Apob	G	A	12: 8,045,585 (GRCm39)	G897D	probably damaging	Het
Arfgef1	A	G	1: 10,212,891 (GRCm39)	F1677L	probably benign	Het
Arhgap40	G	T	2: 158,374,226 (GRCm39)	G217W	probably benign	Het
Arhgef4	A	G	1: 34,761,749 (GRCm39)	E335G	unknown	Het
Calcoco2	T	C	11: 95,994,374 (GRCm39)	T60A	probably damaging	Het
Catsperg1	A	T	7: 28,889,721 (GRCm39)	S741T	probably benign	Het
Ccdc181	T	G	1: 164,105,846 (GRCm39)	I27S	probably damaging	Het
Ceacam9	A	T	7: 16,459,334 (GRCm39)	Y211F	probably damaging	Het
Cep41	T	C	6: 30,671,318 (GRCm39)		probably null	Het
Cercam	T	A	2: 29,759,689 (GRCm39)	L45Q	probably damaging	Het
Cnnm2	G	A	19: 46,751,685 (GRCm39)	V492M	possibly damaging	Het
Cntn3	A	G	6: 102,180,981 (GRCm39)	V738A	probably damaging	Het
Coq8a	T	C	1: 179,997,646 (GRCm39)	E351G	probably damaging	Het
Cyp3a57	T	C	5: 145,307,538 (GRCm39)		probably null	Het
Dbn1	T	C	13: 55,623,071 (GRCm39)	I471V	probably benign	Het
Ddx21	G	T	10: 62,429,782 (GRCm39)	Q321K	probably benign	Het
Dhx8	T	C	11: 101,630,634 (GRCm39)	V347A	probably damaging	Het
Dkc1	A	G	X: 74,144,598 (GRCm39)	I215V	probably benign	Homo
Dlg2	A	G	7: 92,077,788 (GRCm39)	I685V	possibly damaging	Het
Dusp11	A	C	6: 85,930,363 (GRCm39)	N140K	probably damaging	Het
Ece2	A	G	16: 20,459,468 (GRCm39)	K454R	probably damaging	Het
Eno4	T	A	19: 58,935,181 (GRCm39)	V131E	probably damaging	Het
Enpep	A	G	3: 129,097,362 (GRCm39)		probably null	Het
Etv1	T	C	12: 38,885,219 (GRCm39)	Y236H	probably damaging	Het
F2rl2	A	G	13: 95,837,140 (GRCm39)	T62A	probably benign	Het
Fbxl21	T	C	13: 56,684,862 (GRCm39)	V296A	probably damaging	Het
Fig4	T	C	10: 41,148,994 (GRCm39)	I153V	probably benign	Het
Fis1	T	A	5: 136,991,951 (GRCm39)	N41K	possibly damaging	Het
Fras1	T	A	5: 96,848,427 (GRCm39)	M1814K	probably benign	Het
Frem2	T	A	3: 53,451,792 (GRCm39)	I2266F	probably benign	Het
Gm10330	A	T	12: 23,829,843 (GRCm39)	*113R	probably null	Het
Gm12185	T	A	11: 48,806,367 (GRCm39)	I275F	probably benign	Het
Gsdme	A	T	6: 50,206,304 (GRCm39)	C180S	possibly damaging	Het
Herc1	A	G	9: 66,323,551 (GRCm39)	E1355G	probably benign	Het
Hnrnpm	A	T	17: 33,869,185 (GRCm39)	I453N	possibly damaging	Het
Hspb9	T	C	11: 100,604,896 (GRCm39)	L74P	probably damaging	Het
Ift46	C	A	9: 44,695,260 (GRCm39)	Y85*	probably null	Het
Insyn2b	T	G	11: 34,353,227 (GRCm39)	L423R	probably damaging	Het
Ints3	T	C	3: 90,315,817 (GRCm39)	T316A	possibly damaging	Het
Isg20	C	T	7: 78,564,076 (GRCm39)		probably benign	Het
Itga11	T	A	9: 62,642,639 (GRCm39)	N187K	probably damaging	Het
Klhl9	G	A	4: 88,639,161 (GRCm39)	T360I	probably damaging	Het
Krt39	T	A	11: 99,411,826 (GRCm39)	I87F	probably benign	Het
Krtap19-4	G	A	16: 88,681,734 (GRCm39)	S74F	unknown	Het
Lgi1	G	A	19: 38,289,737 (GRCm39)	V268I	probably damaging	Het
Lrrc46	G	A	11: 96,925,719 (GRCm39)	P248S	probably benign	Het
Lrrn4	C	T	2: 132,721,488 (GRCm39)	V110I	probably benign	Het
Mamstr	C	A	7: 45,294,116 (GRCm39)		probably benign	Het
Micu3	T	A	8: 40,833,718 (GRCm39)	F451I	probably damaging	Het
Mkks	T	C	2: 136,722,201 (GRCm39)	T319A	probably benign	Het
Mob3c	A	G	4: 115,690,968 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,230,554 (GRCm39)	E1192G	probably benign	Het
Ndc80	A	G	17: 71,827,753 (GRCm39)		probably null	Het
Nfx1	A	G	4: 41,012,070 (GRCm39)	K807E	probably benign	Het
Nrxn1	A	T	17: 90,930,850 (GRCm39)	L181Q	probably damaging	Het
Nsun7	A	G	5: 66,418,407 (GRCm39)	S46G	probably benign	Het
Nup98	A	T	7: 101,834,038 (GRCm39)	L308H	probably damaging	Het
Or4c115	C	A	2: 88,927,860 (GRCm39)	W137L	probably benign	Het
Or52j3	T	C	7: 102,836,098 (GRCm39)	F97L	probably damaging	Het
Or6f2	T	C	7: 139,756,141 (GRCm39)	V36A	probably benign	Het
Or8k32	T	C	2: 86,369,077 (GRCm39)	M61V	possibly damaging	Het
Palb2	T	C	7: 121,726,589 (GRCm39)	K427R	probably damaging	Het
Pcdha1	C	A	18: 37,063,965 (GRCm39)	Q210K	probably benign	Het
Pcdhb2	T	C	18: 37,429,260 (GRCm39)	L411P	probably damaging	Het
Pde4dip	C	A	3: 97,602,321 (GRCm39)	D2252Y	probably damaging	Het
Plekhg4	T	A	8: 106,107,003 (GRCm39)	Y899*	probably null	Het
Plxnb2	G	T	15: 89,045,131 (GRCm39)	T1105K	probably benign	Het
Psmd2	T	C	16: 20,478,719 (GRCm39)	V606A	probably damaging	Het
Ptprq	A	T	10: 107,521,043 (GRCm39)	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,506,552 (GRCm39)	E158G	probably damaging	Het
Rasip1	T	A	7: 45,277,247 (GRCm39)	H18Q	possibly damaging	Het
Rassf8	A	G	6: 145,760,808 (GRCm39)	K45E	probably damaging	Het
Rrn3	T	A	16: 13,613,940 (GRCm39)	M284K	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rtn2	C	A	7: 19,027,820 (GRCm39)	N403K	probably damaging	Het
Rusc1	A	G	3: 88,997,027 (GRCm39)	W462R	probably damaging	Het
Sdc3	T	A	4: 130,545,907 (GRCm39)		probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc12a2	T	A	18: 58,039,032 (GRCm39)	C537*	probably null	Het
Slc4a2	G	A	5: 24,639,238 (GRCm39)		probably null	Het
Spsb4	T	A	9: 96,877,744 (GRCm39)	D193V	probably damaging	Het
Strn	A	C	17: 78,984,780 (GRCm39)	F288V	probably damaging	Het
Stx18	G	A	5: 38,293,712 (GRCm39)		probably benign	Het
Tfcp2l1	T	A	1: 118,596,378 (GRCm39)	M371K	probably benign	Het
Thnsl1	A	G	2: 21,216,352 (GRCm39)		probably null	Het
Tlr11	C	T	14: 50,598,439 (GRCm39)	H142Y	possibly damaging	Het
Tor1aip2	T	A	1: 155,940,780 (GRCm39)	I362K	probably damaging	Het
Trmt13	T	C	3: 116,383,404 (GRCm39)	K125E	probably damaging	Het
Trpm8	T	C	1: 88,264,851 (GRCm39)	V320A	probably benign	Het
Ubr3	A	T	2: 69,766,263 (GRCm39)	H377L	probably damaging	Het
Usp8	A	G	2: 126,567,349 (GRCm39)	R123G	probably null	Het
Vim	T	A	2: 13,579,775 (GRCm39)	L178Q	probably damaging	Het
Vmn1r231	A	C	17: 21,110,489 (GRCm39)	V142G	possibly damaging	Het
Vmn1r83	A	G	7: 12,055,697 (GRCm39)	M120T	possibly damaging	Het
Vwce	G	T	19: 10,642,012 (GRCm39)	V913F	possibly damaging	Het
Zbtb18	C	A	1: 177,275,285 (GRCm39)	T215K	probably benign	Het
Zeb2	A	T	2: 44,886,353 (GRCm39)	D857E	probably damaging	Het
Zfp106	G	A	2: 120,364,221 (GRCm39)	H729Y	probably damaging	Het
Zfp977	C	A	7: 42,229,437 (GRCm39)	A363S	probably benign	Het

Other mutations in Mid1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02590:Mid1	APN	X	168,710,019 (GRCm39)	missense	probably damaging	1.00
LCD18:Mid1	UTSW	X	168,788,560 (GRCm39)	unclassified	probably benign
R1317:Mid1	UTSW	X	168,769,090 (GRCm39)	missense	probably damaging	1.00
R1364:Mid1	UTSW	X	168,769,090 (GRCm39)	missense	probably damaging	1.00
R1366:Mid1	UTSW	X	168,769,090 (GRCm39)	missense	probably damaging	1.00
R4452:Mid1	UTSW	X	168,710,421 (GRCm39)	missense	possibly damaging	0.62
R7100:Mid1	UTSW	X	168,768,073 (GRCm39)	missense	probably benign	0.43
R7554:Mid1	UTSW	X	168,769,010 (GRCm39)	missense	possibly damaging	0.93
R8510:Mid1	UTSW	X	168,768,019 (GRCm39)	missense	probably benign	0.03
R8979:Mid1	UTSW	X	168,768,009 (GRCm39)	missense	probably benign
R8979:Mid1	UTSW	X	168,768,003 (GRCm39)	missense	probably benign
R9322:Mid1	UTSW	X	168,768,003 (GRCm39)	missense	probably benign
R9650:Mid1	UTSW	X	168,768,003 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCTTTAGTCACACCGCTC -3'
(R):5'- TGTTGAGATCCCTTCACCCAG -3'

Sequencing Primer
(F):5'- CTTTAAGTAGACGGCTAAGCGCTC -3'
(R):5'- GCTCATCTGAAAACAGTCGTCG -3'

Posted On

2015-10-08