Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03177:Tmigd1'

412056

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmigd1

Ensembl Gene

ENSMUSG00000020839

Gene Name

transmembrane and immunoglobulin domain containing 1

Synonyms

2010002A20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03177

Quality Score

Status

Chromosome

Chromosomal Location

76792985-76807413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76797774 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 39 (Y39H)

Ref Sequence

ENSEMBL: ENSMUSP00000121222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072633] [ENSMUST00000102495] [ENSMUST00000142166]

AlphaFold

Q9D7L8

Predicted Effect

probably benign
Transcript: ENSMUST00000072633
AA Change: Y39H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000072427
Gene: ENSMUSG00000020839
AA Change: Y39H

Domain	Start	End	E-Value	Type
IG_like	38	119	6.75e1	SMART
IGc2	133	201	4.63e-8	SMART
transmembrane domain	217	239	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102495
AA Change: Y39H

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000099553
Gene: ENSMUSG00000020839
AA Change: Y39H

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
IG_like	38	119	6.75e1	SMART
IGc2	133	201	4.63e-8	SMART
transmembrane domain	217	239	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136899

Predicted Effect

probably benign
Transcript: ENSMUST00000142166
AA Change: Y39H

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000121222
Gene: ENSMUSG00000020839
AA Change: Y39H

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Ig_2	27	120	3.8e-6	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg2	T	C	X: 159,221,259 (GRCm39)	I23T	possibly damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Anxa7	T	C	14: 20,506,654 (GRCm39)	I451V	probably benign	Het
Capn10	T	C	1: 92,862,704 (GRCm39)	F37L	probably benign	Het
Cyp4f13	A	G	17: 33,165,888 (GRCm39)	I30T	possibly damaging	Het
Ddx27	A	G	2: 166,869,840 (GRCm39)	N392D	possibly damaging	Het
Dhx30	T	C	9: 109,917,078 (GRCm39)	H479R	possibly damaging	Het
Dnah5	A	G	15: 28,295,545 (GRCm39)	Y1426C	probably damaging	Het
Dnajc2	A	G	5: 21,980,079 (GRCm39)		probably benign	Het
Fbxw8	C	A	5: 118,267,045 (GRCm39)		probably benign	Het
Grik5	G	A	7: 24,714,879 (GRCm39)	T705I	probably damaging	Het
H2ac4	T	A	13: 23,935,509 (GRCm39)		probably benign	Het
H2-M3	G	T	17: 37,581,207 (GRCm39)	V19F	possibly damaging	Het
Hapln2	C	A	3: 87,930,078 (GRCm39)	C266F	probably damaging	Het
Hspbp1	A	T	7: 4,667,700 (GRCm39)		probably null	Het
Jak3	T	A	8: 72,135,014 (GRCm39)	V549D	probably damaging	Het
Mark1	A	G	1: 184,677,104 (GRCm39)	S49P	probably damaging	Het
Mdfic	T	C	6: 15,770,450 (GRCm39)	V152A	probably damaging	Het
Mgat4a	C	A	1: 37,483,968 (GRCm39)	V501L	probably damaging	Het
Mlxip	C	A	5: 123,584,044 (GRCm39)	P536T	possibly damaging	Het
Mrpl2	A	T	17: 46,959,963 (GRCm39)	T213S	probably damaging	Het
Nos1ap	C	A	1: 170,218,299 (GRCm39)		probably null	Het
Or4a74	C	T	2: 89,439,826 (GRCm39)	V207I	probably benign	Het
Or6c1b	T	C	10: 129,272,684 (GRCm39)	M1T	probably null	Het
Or8b50	T	A	9: 38,517,867 (GRCm39)	Y35*	probably null	Het
P2rx2	T	C	5: 110,489,479 (GRCm39)	I251V	probably damaging	Het
Parva	T	A	7: 112,172,140 (GRCm39)		probably benign	Het
Phf10	G	A	17: 15,166,493 (GRCm39)	T459I	probably damaging	Het
Prg4	T	A	1: 150,331,354 (GRCm39)		probably benign	Het
Pum3	A	T	19: 27,367,612 (GRCm39)	I639N	probably benign	Het
Rlf	T	A	4: 121,005,276 (GRCm39)	K1235*	probably null	Het
Ryr3	T	A	2: 112,859,016 (GRCm39)	I46F	probably benign	Het
Sall3	A	G	18: 81,016,183 (GRCm39)	S582P	probably benign	Het
Scn3b	A	C	9: 40,181,338 (GRCm39)	Y17S	probably benign	Het
Senp8	A	G	9: 59,644,611 (GRCm39)	C169R	probably damaging	Het
Sgsm1	C	T	5: 113,398,859 (GRCm39)	A1025T	probably damaging	Het
Six1	T	C	12: 73,090,514 (GRCm39)	E217G	possibly damaging	Het
Slc38a8	T	C	8: 120,212,251 (GRCm39)	D364G	probably damaging	Het
Stk10	A	T	11: 32,564,592 (GRCm39)	E801V	probably damaging	Het
Ston2	A	T	12: 91,614,431 (GRCm39)	I659N	probably damaging	Het
Stxbp4	T	C	11: 90,462,579 (GRCm39)	Q331R	probably benign	Het
Synpo2	A	T	3: 122,914,864 (GRCm39)	V54E	probably damaging	Het
Tax1bp1	A	G	6: 52,713,932 (GRCm39)	D237G	possibly damaging	Het
Vmn1r15	A	G	6: 57,235,458 (GRCm39)	T109A	probably benign	Het
Vmn1r209	T	C	13: 22,990,024 (GRCm39)	Y222C	possibly damaging	Het
Zfp809	A	G	9: 22,146,347 (GRCm39)	D12G	probably damaging	Het

Other mutations in Tmigd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02887:Tmigd1	APN	11	76,804,812 (GRCm39)	missense	probably benign	0.00
R0305:Tmigd1	UTSW	11	76,797,960 (GRCm39)	missense	probably damaging	1.00
R1440:Tmigd1	UTSW	11	76,800,986 (GRCm39)	missense	probably damaging	1.00
R1942:Tmigd1	UTSW	11	76,804,905 (GRCm39)	critical splice donor site	probably null
R2155:Tmigd1	UTSW	11	76,800,999 (GRCm39)	missense	probably benign	0.14
R3104:Tmigd1	UTSW	11	76,801,124 (GRCm39)	missense	possibly damaging	0.93
R3105:Tmigd1	UTSW	11	76,801,124 (GRCm39)	missense	possibly damaging	0.93
R3106:Tmigd1	UTSW	11	76,801,124 (GRCm39)	missense	possibly damaging	0.93
R5712:Tmigd1	UTSW	11	76,797,858 (GRCm39)	missense	probably damaging	1.00
R5741:Tmigd1	UTSW	11	76,797,916 (GRCm39)	missense	possibly damaging	0.94
R5837:Tmigd1	UTSW	11	76,806,911 (GRCm39)	utr 3 prime	probably benign
R9153:Tmigd1	UTSW	11	76,795,468 (GRCm39)	missense	probably benign	0.01
R9178:Tmigd1	UTSW	11	76,804,878 (GRCm39)	missense	probably benign	0.40
R9214:Tmigd1	UTSW	11	76,801,031 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02