Mutagenetix > Incidental Mutation

Incidental Mutation 'R7554:Mid1'

584656

Institutional Source

Beutler Lab

Gene Symbol

Mid1

Ensembl Gene

ENSMUSG00000035299

Gene Name

midline 1

Synonyms

Fxy, Trim18, 61B3-R, DXHXS1141

MMRRC Submission

045651-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7554 (G1)

Quality Score

94.0077

Status

Not validated

Chromosome

Chromosomal Location

168468178-168773794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 168769010 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 468 (S468I)

Ref Sequence

ENSEMBL: ENSMUSP00000038765 (fasta)

Gene Model

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

AlphaFold

O70583

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036753
AA Change: S468I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038765
Gene: ENSMUSG00000035299
AA Change: S468I

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 damaging
Transcript: ENSMUST00000078947
AA Change: S430I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077974
Gene: ENSMUSG00000035299
AA Change: S430I

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

probably damaging
Transcript: ENSMUST00000079443
AA Change: S188I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078412
Gene: ENSMUSG00000035299
AA Change: S188I

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

possibly damaging
Transcript: ENSMUST00000112104
AA Change: S468I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107732
Gene: ENSMUSG00000035299
AA Change: S468I

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

possibly damaging
Transcript: ENSMUST00000112105
AA Change: S468I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107733
Gene: ENSMUSG00000035299
AA Change: S468I

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: S262I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107735
Gene: ENSMUSG00000035299
AA Change: S262I

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

possibly damaging
Transcript: ENSMUST00000163810
AA Change: S468I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128176
Gene: ENSMUSG00000035299
AA Change: S468I

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

possibly damaging
Transcript: ENSMUST00000171433
AA Change: S468I

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126746
Gene: ENSMUSG00000035299
AA Change: S468I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,839,686 (GRCm39)	F185I	probably damaging	Het
Abi3bp	T	A	16: 56,438,575 (GRCm39)		probably null	Het
Acot5	T	A	12: 84,120,254 (GRCm39)	L203H	probably damaging	Het
Alad	C	T	4: 62,430,023 (GRCm39)		probably null	Het
Alkbh5	C	T	11: 60,429,415 (GRCm39)	T56I	probably benign	Het
Apbb1ip	G	A	2: 22,713,558 (GRCm39)	D138N	unknown	Het
BC049715	T	G	6: 136,817,295 (GRCm39)	S178R	probably damaging	Het
C1rb	C	A	6: 124,557,365 (GRCm39)	H501N	probably damaging	Het
Celsr3	A	T	9: 108,718,408 (GRCm39)	M2327L	probably benign	Het
Cers4	G	A	8: 4,565,718 (GRCm39)	V55I	probably benign	Het
Cngb3	A	T	4: 19,461,753 (GRCm39)	K545*	probably null	Het
Crb1	C	T	1: 139,265,019 (GRCm39)	C133Y	probably damaging	Het
Cryba4	C	T	5: 112,398,969 (GRCm39)	R25Q	probably damaging	Het
Cyp7b1	C	T	3: 18,151,610 (GRCm39)	G201D	probably benign	Het
Dcun1d2	A	T	8: 13,331,077 (GRCm39)	C18S	probably benign	Het
Ddx39b	A	T	17: 35,466,006 (GRCm39)	I176F	probably benign	Het
Dnah7a	A	G	1: 53,567,857 (GRCm39)	I1913T	possibly damaging	Het
Eif2ak1	T	C	5: 143,816,296 (GRCm39)	I198T	probably damaging	Het
Esp34	G	A	17: 38,866,782 (GRCm39)	M75I	probably benign	Het
Fam98a	G	T	17: 75,854,670 (GRCm39)	C46*	probably null	Het
Fanci	A	T	7: 79,062,500 (GRCm39)	N342I	probably damaging	Het
Fat1	A	T	8: 45,490,202 (GRCm39)	I3705F	possibly damaging	Het
Fbxw7	T	A	3: 84,883,620 (GRCm39)	V598D		Het
Gas2l2	G	A	11: 83,315,236 (GRCm39)	Q306*	probably null	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gigyf2	T	A	1: 87,335,292 (GRCm39)	S378T	unknown	Het
Hao1	C	T	2: 134,372,538 (GRCm39)	V157M	possibly damaging	Het
Hdlbp	C	T	1: 93,365,031 (GRCm39)	V79M	probably damaging	Het
Htt	G	A	5: 35,022,084 (GRCm39)	R1676H	probably damaging	Het
Ift56	T	A	6: 38,362,435 (GRCm39)	L70Q	probably null	Het
Klhl11	A	G	11: 100,354,774 (GRCm39)	V349A	probably benign	Het
Lama2	T	C	10: 27,031,492 (GRCm39)	E1522G	probably damaging	Het
Map3k4	T	A	17: 12,451,300 (GRCm39)	K1531M	probably damaging	Het
Map3k4	T	A	17: 12,451,301 (GRCm39)	K1531*	probably null	Het
Mapk15	A	G	15: 75,867,745 (GRCm39)	Y120C	possibly damaging	Het
Mapt	C	A	11: 104,189,528 (GRCm39)	P182Q	probably benign	Het
Mgat4d	A	C	8: 84,082,402 (GRCm39)	K117N	probably benign	Het
Mmp8	T	C	9: 7,563,112 (GRCm39)	L225P	probably damaging	Het
Mrps31	A	G	8: 22,911,445 (GRCm39)	K229R	possibly damaging	Het
Muc5b	A	T	7: 141,412,513 (GRCm39)	T1820S	unknown	Het
Myof	T	C	19: 37,942,958 (GRCm39)	T707A	probably benign	Het
Nckap5l	A	T	15: 99,327,261 (GRCm39)	S143T	probably benign	Het
Notch3	A	G	17: 32,341,345 (GRCm39)	S2136P	probably benign	Het
Nphp3	A	T	9: 103,919,270 (GRCm39)	D1306V	probably damaging	Het
Or10ag56	T	A	2: 87,139,349 (GRCm39)	M92K	probably damaging	Het
Or1e1b-ps1	C	T	11: 73,845,630 (GRCm39)	T38I	probably damaging	Het
Or2at1	T	A	7: 99,417,210 (GRCm39)	N280K	possibly damaging	Het
Or52n1	T	C	7: 104,383,074 (GRCm39)	I166V	probably benign	Het
Or56b1	T	C	7: 104,285,733 (GRCm39)	M284T	probably benign	Het
Or5k15	T	C	16: 58,709,769 (GRCm39)	I271M	probably benign	Het
Pabpc4l	T	A	3: 46,401,549 (GRCm39)	T32S	probably benign	Het
Pcdhb10	A	C	18: 37,544,935 (GRCm39)	T4P	probably benign	Het
Pkhd1l1	A	G	15: 44,358,866 (GRCm39)	I358M	probably damaging	Het
Plekhg1	A	G	10: 3,913,647 (GRCm39)	E1178G		Het
Prkcd	A	T	14: 30,331,220 (GRCm39)	Y52N	probably damaging	Het
Rasa3	G	A	8: 13,645,390 (GRCm39)	T183M	probably damaging	Het
Rbm26	G	T	14: 105,398,029 (GRCm39)	A31D	unknown	Het
Scara3	T	C	14: 66,158,299 (GRCm39)	T570A	possibly damaging	Het
Sec24d	T	A	3: 123,149,423 (GRCm39)	V810D	probably damaging	Het
Sgcz	A	T	8: 38,030,426 (GRCm39)		probably null	Het
Stt3b	A	G	9: 115,109,477 (GRCm39)		probably null	Het
Synpo	G	T	18: 60,736,405 (GRCm39)	Q514K	probably benign	Het
Tagln2	G	T	1: 172,333,411 (GRCm39)	K88N	probably damaging	Het
Tcaf1	T	A	6: 42,654,388 (GRCm39)	K601N	probably benign	Het
Tent4a	G	T	13: 69,648,191 (GRCm39)	H734Q	probably damaging	Het
Tprn	T	C	2: 25,153,811 (GRCm39)	F371S	probably damaging	Het
Ttn	A	T	2: 76,671,652 (GRCm39)	V11304E	unknown	Het
Ttn	C	T	2: 76,706,207 (GRCm39)	W9171*	probably null	Het
Vmn2r50	A	T	7: 9,784,066 (GRCm39)	M136K	probably null	Het
Zfp518b	G	A	5: 38,830,415 (GRCm39)	P530L	probably damaging	Het
Zfp941	C	A	7: 140,391,970 (GRCm39)	S463I	possibly damaging	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
R4678:Mid1	UTSW	X	168,768,044 (GRCm39)	missense	possibly damaging	0.79
R7100:Mid1	UTSW	X	168,768,073 (GRCm39)	missense	probably benign	0.43
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'- ATAGAGGTAGCACGCTGAGC -3'
(R):5'- CTGAGTGACCATGTGAGACAG -3'

Sequencing Primer
(F):5'- GCACGCTGAGCAGTATTTTATTGATC -3'
(R):5'- CCATGTGAGACAGGGGGATGAC -3'

Posted On

2019-10-17