Mutagenetix > Incidental Mutation

Incidental Mutation 'R8979:Mid1'

683674

Institutional Source

Beutler Lab

Gene Symbol

Mid1

Ensembl Gene

ENSMUSG00000035299

Gene Name

midline 1

Synonyms

Fxy, Trim18, 61B3-R, DXHXS1141

MMRRC Submission

068812-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8979 (G1)

Quality Score

82.2636

Status

Not validated

Chromosome

Chromosomal Location

168468178-168773794 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 168768009 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 386 (A386T)

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

probably benign
Transcript: ENSMUST00000036753
AA Change: A386T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038765
Gene: ENSMUSG00000035299
AA Change: A386T

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: A348T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077974
Gene: ENSMUSG00000035299
AA Change: A348T

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 benign
Transcript: ENSMUST00000079443
AA Change: A119T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078412
Gene: ENSMUSG00000035299
AA Change: A119T

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: A386T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107732
Gene: ENSMUSG00000035299
AA Change: A386T

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: A386T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107733
Gene: ENSMUSG00000035299
AA Change: A386T

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

probably benign
Transcript: ENSMUST00000112107
AA Change: A180T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107735
Gene: ENSMUSG00000035299
AA Change: A180T

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

probably benign
Transcript: ENSMUST00000163810
AA Change: A386T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128176
Gene: ENSMUSG00000035299
AA Change: A386T

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: A386T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126746
Gene: ENSMUSG00000035299
AA Change: A386T

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: 99.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	C	3: 59,932,545 (GRCm39)	R353S	probably damaging	Het
Ablim3	C	T	18: 61,982,397 (GRCm39)	V183I	probably benign	Het
Adgrb3	T	A	1: 25,527,115 (GRCm39)	Q607L	probably benign	Het
Adgrl1	A	G	8: 84,665,015 (GRCm39)	D1234G	probably benign	Het
Alms1	A	G	6: 85,598,009 (GRCm39)	Y945C	probably damaging	Het
Arhgef26	T	A	3: 62,246,969 (GRCm39)	W18R	possibly damaging	Het
Caskin1	G	T	17: 24,717,899 (GRCm39)	A229S	possibly damaging	Het
Celsr1	A	T	15: 85,847,340 (GRCm39)	S1466T	probably damaging	Het
Cftr	T	C	6: 18,227,947 (GRCm39)	Y380H	probably benign	Het
Ciapin1	A	T	8: 95,549,753 (GRCm39)	L301Q	probably damaging	Het
Clec1b	A	G	6: 129,380,537 (GRCm39)	E151G	probably benign	Het
Cngb1	G	A	8: 96,004,913 (GRCm39)		probably benign	Het
Cntln	T	A	4: 85,048,910 (GRCm39)	V240E	probably damaging	Het
Cog5	A	G	12: 31,840,894 (GRCm39)	T240A	probably benign	Het
Col5a3	G	A	9: 20,686,597 (GRCm39)	P1343S	unknown	Het
Cspp1	T	A	1: 10,134,630 (GRCm39)	S127T	probably benign	Het
Dnah9	T	G	11: 65,895,978 (GRCm39)	M2466L	probably benign	Het
Fbn2	C	T	18: 58,286,928 (GRCm39)	G244R	probably damaging	Het
Fbxw13	A	T	9: 109,013,197 (GRCm39)	W247R	probably damaging	Het
Gbp4	G	A	5: 105,267,248 (GRCm39)	T557M	probably benign	Het
Ide	G	A	19: 37,302,711 (GRCm39)	A133V		Het
Il2rb	C	A	15: 78,376,052 (GRCm39)		probably benign	Het
Itgb1	A	G	8: 129,448,951 (GRCm39)	E519G	probably benign	Het
Kifc1	A	G	17: 34,102,228 (GRCm39)	Y462H	possibly damaging	Het
Krt1	A	G	15: 101,755,340 (GRCm39)	F473S	probably benign	Het
Llgl1	C	T	11: 60,601,129 (GRCm39)	A689V	probably benign	Het
Lrrc37a	C	A	11: 103,393,833 (GRCm39)	V531L	possibly damaging	Het
Mms22l	C	T	4: 24,580,070 (GRCm39)	L760F	probably benign	Het
Mplkipl1	A	G	19: 61,164,169 (GRCm39)	Y89H	probably damaging	Het
Mst1r	C	T	9: 107,792,478 (GRCm39)	R951C	probably damaging	Het
Naalad2	G	A	9: 18,242,146 (GRCm39)	T586M	probably damaging	Het
Or4c108	C	T	2: 88,804,173 (GRCm39)	V21I	probably benign	Het
Oxct2b	A	G	4: 123,011,169 (GRCm39)	N363S	probably benign	Het
Padi6	T	G	4: 140,466,474 (GRCm39)	N145T	probably benign	Het
Plcl2	T	A	17: 50,947,145 (GRCm39)	M1008K	possibly damaging	Het
Plekha5	T	C	6: 140,496,818 (GRCm39)	S435P	probably damaging	Het
Prkacb	C	A	3: 146,518,411 (GRCm39)	G10C	probably benign	Het
Psg29	A	T	7: 16,937,544 (GRCm39)		probably benign	Het
Ptpn4	T	C	1: 119,671,120 (GRCm39)	T213A	probably damaging	Het
Ptpro	A	G	6: 137,345,140 (GRCm39)	I49V	probably benign	Het
Rassf1	A	G	9: 107,429,004 (GRCm39)	D70G	probably benign	Het
Rbm24	A	T	13: 46,572,531 (GRCm39)	T9S	probably damaging	Het
Rp1	T	C	1: 4,218,937 (GRCm39)	T948A	unknown	Het
Ryr2	A	T	13: 11,609,924 (GRCm39)	C4301S	probably benign	Het
S100pbp	T	C	4: 129,076,133 (GRCm39)	D64G	probably damaging	Het
Samd3	A	G	10: 26,120,428 (GRCm39)	K141E	possibly damaging	Het
Scgb1b29	A	T	7: 32,141,277 (GRCm39)	K65*	probably null	Het
Shoc1	T	C	4: 59,047,276 (GRCm39)	T1448A	possibly damaging	Het
Slc51b	T	C	9: 65,320,210 (GRCm39)	N86D	probably benign	Het
Slc6a3	G	A	13: 73,715,720 (GRCm39)	V452I	probably benign	Het
Sobp	A	G	10: 42,896,976 (GRCm39)		probably null	Het
Spats2	T	C	15: 99,110,123 (GRCm39)	S507P	possibly damaging	Het
Spns3	C	T	11: 72,420,416 (GRCm39)	A357T	probably damaging	Het
Suox	A	T	10: 128,507,367 (GRCm39)	H220Q	probably damaging	Het
Tbc1d9b	A	T	11: 50,061,809 (GRCm39)	S1106C	probably benign	Het
Tbx1	T	C	16: 18,406,745 (GRCm39)	D9G	unknown	Het
Tcaf2	A	T	6: 42,601,404 (GRCm39)	F885Y	probably damaging	Het
Tgoln1	T	C	6: 72,593,262 (GRCm39)	T73A	probably benign	Het
Tigd3	G	A	19: 5,941,853 (GRCm39)	P426S	probably benign	Het
Tmem233	T	A	5: 116,221,260 (GRCm39)		probably benign	Het
Tnfrsf11a	A	G	1: 105,754,825 (GRCm39)	D299G	possibly damaging	Het
Trim32	T	C	4: 65,531,692 (GRCm39)	V83A	possibly damaging	Het
Unc13a	A	T	8: 72,113,125 (GRCm39)	M242K	probably benign	Het
Vat1	C	T	11: 101,353,041 (GRCm39)	G293D	probably damaging	Het
Vmn1r174	T	A	7: 23,453,892 (GRCm39)	V186D	possibly damaging	Het
Wdfy3	A	G	5: 102,096,764 (GRCm39)	Y345H	probably damaging	Het
Zzef1	C	T	11: 72,766,003 (GRCm39)	T1510I	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
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
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	168,768,003 (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'- GCTTTAGTCACACCGCTCAG -3'
(R):5'- TCTGAAAACAGTCGTCGAACG -3'

Sequencing Primer
(F):5'- TTTAGTCACACCGCTCAGAAAAATC -3'
(R):5'- CAGTCGTCGAACGCGGAAG -3'

Posted On

2021-10-11