Mutagenetix > Incidental Mutation

Incidental Mutation 'R6906:Tcaim'

538785

Institutional Source

Beutler Lab

Gene Symbol

Tcaim

Ensembl Gene

ENSMUSG00000046603

Gene Name

T cell activation inhibitor, mitochondrial

Synonyms

D9Ertd402e, LOC382117

MMRRC Submission

044998-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6906 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122634604-122665399 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 122663839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 443 (T443I)

Ref Sequence

ENSEMBL: ENSMUSP00000049759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052740] [ENSMUST00000136274] [ENSMUST00000203176] [ENSMUST00000203656] [ENSMUST00000204619]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000052740
AA Change: T443I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000049759
Gene: ENSMUSG00000046603
AA Change: T443I

Domain	Start	End	E-Value	Type
Pfam:DUF4460	33	144	4.2e-40	PFAM
Pfam:DUF4461	199	503	4.1e-124	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136274

SMART Domains

Protein: ENSMUSP00000120948
Gene: ENSMUSG00000046603

Domain	Start	End	E-Value	Type
Pfam:DUF4460	31	125	2.7e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203176

SMART Domains

Protein: ENSMUSP00000145415
Gene: ENSMUSG00000107504

Domain	Start	End	E-Value	Type
low complexity region	23	38	N/A	INTRINSIC
low complexity region	75	95	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203656

SMART Domains

Protein: ENSMUSP00000144807
Gene: ENSMUSG00000107504

Domain	Start	End	E-Value	Type
low complexity region	23	38	N/A	INTRINSIC
low complexity region	75	95	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204619

SMART Domains

Protein: ENSMUSP00000145500
Gene: ENSMUSG00000107504

Domain	Start	End	E-Value	Type
low complexity region	23	38	N/A	INTRINSIC
low complexity region	75	95	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	A	G	5: 24,773,840 (GRCm39)	F350L	possibly damaging	Het
Ahnak2	T	A	12: 112,748,933 (GRCm39)	T305S	probably benign	Het
Anp32a	A	G	9: 62,284,851 (GRCm39)		probably benign	Het
Aplf	A	G	6: 87,607,068 (GRCm39)	S449P	possibly damaging	Het
Arl6ip4	A	G	5: 124,254,614 (GRCm39)	R36G	possibly damaging	Het
Ascc1	G	A	10: 59,840,674 (GRCm39)	D12N	probably benign	Het
Bin1	C	A	18: 32,554,978 (GRCm39)	H243Q	probably benign	Het
Ccdc168	C	T	1: 44,095,173 (GRCm39)	S1975N	probably benign	Het
Ccdc7a	C	A	8: 129,662,162 (GRCm39)	V547L	unknown	Het
Cntnap5c	T	A	17: 58,702,302 (GRCm39)	N1207K	probably benign	Het
Coro7	C	A	16: 4,451,168 (GRCm39)	R507L	probably benign	Het
Crtap	T	A	9: 114,210,700 (GRCm39)	K291N	probably benign	Het
Csmd3	T	C	15: 47,710,569 (GRCm39)	T1569A	probably benign	Het
Dmrta1	A	G	4: 89,580,203 (GRCm39)	T388A	probably benign	Het
Ehd3	T	C	17: 74,137,333 (GRCm39)	F501L	probably damaging	Het
Fbn2	A	C	18: 58,204,891 (GRCm39)	L1184R	possibly damaging	Het
Fhip1b	G	A	7: 105,037,476 (GRCm39)	T369I	probably damaging	Het
Hsf1	T	C	15: 76,361,919 (GRCm39)		probably null	Het
Hycc1	A	T	5: 24,204,956 (GRCm39)	W12R	probably damaging	Het
Kansl1l	T	C	1: 66,762,437 (GRCm39)	H810R	possibly damaging	Het
Lrp5	A	T	19: 3,672,638 (GRCm39)	I557N	probably damaging	Het
Lypd1	T	C	1: 125,838,196 (GRCm39)	E41G	probably damaging	Het
Mgam	A	G	6: 40,724,853 (GRCm39)	Y443C	probably damaging	Het
Muc2	A	G	7: 141,284,976 (GRCm39)	D871G	probably damaging	Het
Nup85	T	A	11: 115,471,769 (GRCm39)	Y198N	probably damaging	Het
Obscn	T	A	11: 58,923,744 (GRCm39)	M6578L	possibly damaging	Het
Or8h7	T	C	2: 86,721,091 (GRCm39)	T143A	probably benign	Het
Osbpl5	G	C	7: 143,248,065 (GRCm39)	Q667E	probably damaging	Het
Ovgp1	T	A	3: 105,894,189 (GRCm39)		probably benign	Het
Prl8a2	T	A	13: 27,532,900 (GRCm39)	N37K	probably benign	Het
Ptprf	A	T	4: 118,126,474 (GRCm39)	I93N	possibly damaging	Het
Rnf112	T	C	11: 61,341,215 (GRCm39)	S457G	probably null	Het
Sema3e	A	G	5: 14,290,601 (GRCm39)	D562G	probably damaging	Het
Sesn3	A	G	9: 14,236,937 (GRCm39)	M472V	probably damaging	Het
Sfpq	GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC	GCCGCCGCAGCAGCC	4: 126,915,419 (GRCm39)		probably benign	Het
Shc3	T	C	13: 51,620,595 (GRCm39)	T144A	probably damaging	Het
Sis	A	G	3: 72,826,818 (GRCm39)	L1287P	probably damaging	Het
Srrm2	C	T	17: 24,039,337 (GRCm39)	P2090S	probably damaging	Het
Syne2	T	G	12: 76,042,760 (GRCm39)	D3910E	possibly damaging	Het
Tex19.1	T	C	11: 121,037,948 (GRCm39)	V102A	probably benign	Het
Tpd52l1	T	G	10: 31,208,950 (GRCm39)	T168P	possibly damaging	Het
Trdn	G	A	10: 33,109,944 (GRCm39)	C294Y	probably benign	Het
Trmt1l	T	C	1: 151,327,926 (GRCm39)	Y479H	probably benign	Het
Vmn1r171	G	A	7: 23,331,804 (GRCm39)	V10I	probably benign	Het
Zbtb41	T	A	1: 139,351,128 (GRCm39)	D80E	possibly damaging	Het
Zcchc4	A	G	5: 52,980,976 (GRCm39)	K473E	possibly damaging	Het

Other mutations in Tcaim

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01389:Tcaim	APN	9	122,643,627 (GRCm39)	missense	possibly damaging	0.69
IGL01775:Tcaim	APN	9	122,647,890 (GRCm39)	missense	probably damaging	1.00
R1193:Tcaim	UTSW	9	122,647,895 (GRCm39)	missense	probably damaging	0.96
R1487:Tcaim	UTSW	9	122,647,897 (GRCm39)	nonsense	probably null
R1592:Tcaim	UTSW	9	122,647,838 (GRCm39)	critical splice acceptor site	probably null
R1639:Tcaim	UTSW	9	122,647,838 (GRCm39)	critical splice acceptor site	probably null
R1642:Tcaim	UTSW	9	122,647,838 (GRCm39)	critical splice acceptor site	probably null
R1853:Tcaim	UTSW	9	122,655,271 (GRCm39)	missense	probably damaging	1.00
R4204:Tcaim	UTSW	9	122,662,683 (GRCm39)	missense	probably benign	0.01
R4427:Tcaim	UTSW	9	122,643,561 (GRCm39)	missense	probably benign	0.01
R6547:Tcaim	UTSW	9	122,643,531 (GRCm39)	missense	probably benign	0.22
R6599:Tcaim	UTSW	9	122,663,844 (GRCm39)	nonsense	probably null
R7158:Tcaim	UTSW	9	122,648,055 (GRCm39)	missense	possibly damaging	0.66
R7286:Tcaim	UTSW	9	122,648,092 (GRCm39)	critical splice donor site	probably null
R7806:Tcaim	UTSW	9	122,663,995 (GRCm39)	missense	probably damaging	1.00
R9368:Tcaim	UTSW	9	122,647,928 (GRCm39)	missense	probably damaging	1.00
R9376:Tcaim	UTSW	9	122,655,995 (GRCm39)	missense	probably damaging	1.00
R9597:Tcaim	UTSW	9	122,637,830 (GRCm39)	critical splice acceptor site	probably null
Z1088:Tcaim	UTSW	9	122,662,722 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGGGAACTCTTGACATGTCTTTTC -3'
(R):5'- GCAGCAGTTAGACACTTTGTTC -3'

Sequencing Primer
(F):5'- CTGTCTTATAAAGAGAGTGTACC -3'
(R):5'- CTTCCAGTTCCACGGGATG -3'

Posted On

2018-11-06