Mutagenetix > Incidental Mutation

Incidental Mutation 'R3105:Tmigd1'

263014

Institutional Source

Beutler Lab

Gene Symbol

Tmigd1

Ensembl Gene

ENSMUSG00000020839

Gene Name

transmembrane and immunoglobulin domain containing 1

Synonyms

2010002A20Rik

MMRRC Submission

040579-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3105 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76792985-76807413 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76801124 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 204 (T204A)

Ref Sequence

ENSEMBL: ENSMUSP00000099553 (fasta)

Gene Model

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

AlphaFold

Q9D7L8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072633
AA Change: T204A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072427
Gene: ENSMUSG00000020839
AA Change: T204A

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

possibly damaging
Transcript: ENSMUST00000102495
AA Change: T204A

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099553
Gene: ENSMUSG00000020839
AA Change: T204A

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

SMART Domains

Protein: ENSMUSP00000121222
Gene: ENSMUSG00000020839

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	T	C	1: 75,151,687 (GRCm39)		probably benign	Het
Abhd13	T	C	8: 10,037,931 (GRCm39)	V176A	probably benign	Het
Alpk2	A	T	18: 65,483,281 (GRCm39)	S242R	possibly damaging	Het
Baz2a	AGCGGCGGTACTTGCGGG	AG	10: 127,960,946 (GRCm39)		probably null	Het
Ccdc163	C	A	4: 116,566,697 (GRCm39)	Q58K	probably benign	Het
Ccdc191	T	C	16: 43,751,573 (GRCm39)	F301S	probably damaging	Het
Clca4b	A	T	3: 144,622,432 (GRCm39)	N544K	probably benign	Het
Col6a3	T	C	1: 90,744,024 (GRCm39)	R515G	probably damaging	Het
Dgkg	T	A	16: 22,394,091 (GRCm39)	T321S	probably damaging	Het
Dip2b	C	A	15: 100,040,018 (GRCm39)	C138*	probably null	Het
Dnaja2	G	A	8: 86,281,857 (GRCm39)	T7M	probably damaging	Het
Ezh1	A	C	11: 101,086,468 (GRCm39)	C575W	probably damaging	Het
F11	T	A	8: 45,698,754 (GRCm39)	Q463H	probably damaging	Het
Gfpt1	A	G	6: 87,034,628 (GRCm39)	D142G	probably benign	Het
Gm8730	T	C	8: 103,591,895 (GRCm39)		noncoding transcript	Het
Grm1	A	G	10: 10,955,601 (GRCm39)	S228P	probably benign	Het
Hnf4g	T	G	3: 3,717,916 (GRCm39)	S388R	probably benign	Het
Il1rap	A	G	16: 26,541,502 (GRCm39)	E581G	probably benign	Het
Lrp4	T	C	2: 91,331,394 (GRCm39)	Y1585H	probably benign	Het
Magi3	A	G	3: 103,958,636 (GRCm39)	V483A	probably damaging	Het
Map2	T	C	1: 66,472,756 (GRCm39)		probably null	Het
Or4a78	T	C	2: 89,497,302 (GRCm39)	I309M	probably benign	Het
Osgep	T	C	14: 51,154,286 (GRCm39)	T225A	probably benign	Het
Otof	A	G	5: 30,539,145 (GRCm39)	Y1090H	probably benign	Het
Pgr	T	A	9: 8,958,397 (GRCm39)	F801L	probably benign	Het
Pomk	A	C	8: 26,472,942 (GRCm39)	L337R	probably damaging	Het
Prune2	T	A	19: 17,096,520 (GRCm39)	S675T	probably damaging	Het
Rnpepl1	C	T	1: 92,844,102 (GRCm39)	L278F	probably damaging	Het
Sars1	C	T	3: 108,336,621 (GRCm39)	R302H	probably damaging	Het
Sbspon	T	C	1: 15,962,806 (GRCm39)	E24G	probably benign	Het
Sec16a	G	A	2: 26,328,433 (GRCm39)	P1194L	probably benign	Het
Sfmbt1	G	A	14: 30,539,753 (GRCm39)	C847Y	probably damaging	Het
Slc22a29	T	C	19: 8,147,337 (GRCm39)	T342A	probably benign	Het
Spaca1	G	A	4: 34,028,468 (GRCm39)	T283M	probably damaging	Het
Stradb	C	A	1: 59,031,450 (GRCm39)	H212Q	possibly damaging	Het
Taf6l	C	T	19: 8,756,219 (GRCm39)	S208N	probably damaging	Het
Tkfc	G	T	19: 10,574,357 (GRCm39)	C198*	probably null	Het
Tm4sf4	C	T	3: 57,345,043 (GRCm39)	R150C	possibly damaging	Het
Tmem212	T	C	3: 27,939,019 (GRCm39)	S156G	probably damaging	Het
Tsga10	G	A	1: 37,840,872 (GRCm39)	L445F	probably damaging	Het
Urb1	C	T	16: 90,592,331 (GRCm39)	V310I	probably damaging	Het
Vmn1r205	T	C	13: 22,777,109 (GRCm39)		probably benign	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
IGL03177:Tmigd1	APN	11	76,797,774 (GRCm39)	missense	probably benign	0.06
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
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

Predicted Primers

PCR Primer
(F):5'- CAATGGCTTCCAAACCGTG -3'
(R):5'- CCTAAAGGAAATGTTCTTAGATGGG -3'

Sequencing Primer
(F):5'- TGGTTTGCAACGTGAAATCCAACC -3'
(R):5'- AATGTTCTTAGATGGGGATAATTTCC -3'

Posted On

2015-02-05