Mutagenetix > Incidental Mutation

Incidental Mutation 'R2397:Tcp10c'

248572

Institutional Source

Beutler Lab

Gene Symbol

Tcp10c

Ensembl Gene

ENSMUSG00000052469

Gene Name

t-complex protein 10c

Synonyms

D17Leh66ca, Gm9880, T66C-a, Tcp-10c, D17Leh66C

MMRRC Submission

040364-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R2397 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

13574834-13597485 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 13590473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 357 (A357E)

Ref Sequence

ENSEMBL: ENSMUSP00000095015 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097403]

AlphaFold

E9Q046

Predicted Effect

probably damaging
Transcript: ENSMUST00000097403
AA Change: A357E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095015
Gene: ENSMUSG00000052469
AA Change: A357E

Domain	Start	End	E-Value	Type
coiled coil region	82	119	N/A	INTRINSIC
Pfam:Tcp10_C	308	481	1e-81	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	A	8: 56,325,933 (GRCm39)	M174L	probably benign	Het
Adamtsl1	C	T	4: 86,117,594 (GRCm39)	R186W	probably damaging	Het
Agtpbp1	C	T	13: 59,622,383 (GRCm39)	V948I	probably benign	Het
Atp13a2	A	G	4: 140,730,466 (GRCm39)	T787A	probably benign	Het
Capn11	T	A	17: 45,964,147 (GRCm39)	N139I	probably damaging	Het
Cars1	T	C	7: 143,146,244 (GRCm39)	D60G	possibly damaging	Het
Cers1	A	T	8: 70,774,186 (GRCm39)	I148F	probably benign	Het
Col14a1	T	C	15: 55,201,835 (GRCm39)	I41T	unknown	Het
Cyp2d26	C	T	15: 82,678,236 (GRCm39)	G47R	probably damaging	Het
Dhx36	A	T	3: 62,405,518 (GRCm39)	M205K	probably benign	Het
Dyrk2	T	A	10: 118,697,273 (GRCm39)		probably benign	Het
Echs1	T	C	7: 139,692,390 (GRCm39)	H119R	possibly damaging	Het
Ehf	T	A	2: 103,107,164 (GRCm39)	D120V	probably damaging	Het
Esrra	A	G	19: 6,897,544 (GRCm39)	L71P	probably damaging	Het
Fam228a	A	T	12: 4,768,718 (GRCm39)	S200R	probably benign	Het
Fibcd1	A	T	2: 31,724,435 (GRCm39)	M191K	probably benign	Het
Foxn4	A	G	5: 114,393,556 (GRCm39)	L521P	probably damaging	Het
Fscn2	T	C	11: 120,252,995 (GRCm39)	L154P	probably damaging	Het
Gm7964	T	G	7: 83,406,321 (GRCm39)		noncoding transcript	Het
Golga3	T	C	5: 110,353,743 (GRCm39)		probably benign	Het
Gria4	A	G	9: 4,537,717 (GRCm39)	L197P	probably damaging	Het
Heg1	T	A	16: 33,562,849 (GRCm39)	M913K	probably damaging	Het
Ifi205	T	C	1: 173,845,141 (GRCm39)	T214A	possibly damaging	Het
Ift140	T	G	17: 25,239,710 (GRCm39)	D122E	probably damaging	Het
Jakmip1	T	A	5: 37,258,087 (GRCm39)	D244E	probably damaging	Het
Krt84	A	G	15: 101,438,689 (GRCm39)	V266A	probably benign	Het
Mc2r	T	A	18: 68,541,224 (GRCm39)	D23V	probably benign	Het
Ncr1	T	A	7: 4,341,260 (GRCm39)	F47I	probably benign	Het
Nr1h3	G	A	2: 91,022,202 (GRCm39)	T142I	possibly damaging	Het
Obox2	C	T	7: 15,130,971 (GRCm39)	P68S	probably benign	Het
Pacs2	G	A	12: 113,026,987 (GRCm39)	D605N	probably damaging	Het
Parn	A	G	16: 13,384,518 (GRCm39)	V515A	probably benign	Het
Ptdss2	T	A	7: 140,727,005 (GRCm39)	F105I	probably benign	Het
Ruvbl1	A	C	6: 88,442,534 (GRCm39)	T9P	possibly damaging	Het
Slc15a3	A	G	19: 10,820,407 (GRCm39)	E8G	probably benign	Het
Slf1	G	T	13: 77,251,702 (GRCm39)	Y303*	probably null	Het
Socs5	T	C	17: 87,442,377 (GRCm39)	F439S	probably damaging	Het
Tmem200c	T	C	17: 69,147,942 (GRCm39)	V175A	probably damaging	Het
Vmn2r124	T	A	17: 18,269,859 (GRCm39)	H38Q	possibly damaging	Het
Vmn2r54	T	G	7: 12,349,578 (GRCm39)	Q668P	probably damaging	Het
Xrcc2	T	C	5: 25,910,708 (GRCm39)	S3G	probably null	Het

Other mutations in Tcp10c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4618001:Tcp10c	UTSW	17	13,576,772 (GRCm39)	missense	possibly damaging	0.78
R5040:Tcp10c	UTSW	17	13,588,453 (GRCm39)	missense	possibly damaging	0.55
R7095:Tcp10c	UTSW	17	13,576,196 (GRCm39)	missense	probably benign	0.23
R7151:Tcp10c	UTSW	17	13,576,166 (GRCm39)	missense	possibly damaging	0.57
R7286:Tcp10c	UTSW	17	13,582,438 (GRCm39)	missense	possibly damaging	0.94
R7423:Tcp10c	UTSW	17	13,581,503 (GRCm39)	splice site	probably null
R7544:Tcp10c	UTSW	17	13,581,260 (GRCm39)	missense	probably damaging	0.98
R7617:Tcp10c	UTSW	17	13,576,100 (GRCm39)	missense	probably damaging	0.97
R9109:Tcp10c	UTSW	17	13,576,650 (GRCm39)	missense	probably damaging	1.00
R9426:Tcp10c	UTSW	17	13,584,463 (GRCm39)	missense	probably benign	0.03
R9444:Tcp10c	UTSW	17	13,581,503 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AACCAATAGCCATTGTCATTCCTG -3'
(R):5'- TTCAAGGCTCAGTGTCTGCTG -3'

Sequencing Primer
(F):5'- TGTCAGCGTCTAGTGCCAC -3'
(R):5'- CAGTGTCTGCTGCCCTC -3'

Posted On

2014-11-11