Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4618001:Tcp10c'

555712

Institutional Source

Beutler Lab

Gene Symbol

Tcp10c

Ensembl Gene

ENSMUSG00000052469

Gene Name

t-complex protein 10c

Synonyms

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

PIT4618001 (G1)

Quality Score

156.008

Status

Not validated

Chromosome

Chromosomal Location

13354572-13377223 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13356510 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 117 (K117R)

Ref Sequence

ENSEMBL: ENSMUSP00000095015 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097403
AA Change: K117R

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000095015
Gene: ENSMUSG00000052469
AA Change: K117R

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

Coding Region Coverage

1x: 93.4%
3x: 91.0%
10x: 85.9%
20x: 75.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,545,709	D64V	probably damaging	Het
Ankdd1a	A	C	9: 65,507,650	I268S	possibly damaging	Het
Atad3a	C	T	4: 155,750,138	R402Q	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Cd55	C	T	1: 130,456,869	V206I	probably benign	Het
Cd8a	A	G	6: 71,373,677	D42G	possibly damaging	Het
Cemip	G	T	7: 83,943,939	F1185L	probably benign	Het
Cfap58	A	G	19: 47,975,514	D527G	probably damaging	Het
Cyp2a12	C	A	7: 27,034,773	S377Y	probably benign	Het
Dapk2	A	G	9: 66,268,686	D289G	probably benign	Het
Efcab6	G	A	15: 83,983,446	A277V	probably benign	Het
Ephx2	A	T	14: 66,102,222	F250L	probably damaging	Het
Flg2	A	T	3: 93,203,781	S1039C	unknown	Het
Gm609	A	G	16: 45,443,934	F87S	probably benign	Het
Gramd1a	A	G	7: 31,132,596	V674A	probably benign	Het
Gtf2a1	A	C	12: 91,567,769	V237G	probably benign	Het
I830077J02Rik	G	A	3: 105,926,570	T90M	probably damaging	Het
Jagn1	T	A	6: 113,447,437	L90H	probably damaging	Het
Mdn1	G	T	4: 32,746,527	A4158S	probably benign	Het
Myh11	G	A	16: 14,201,066	A1839V		Het
Olr1	G	A	6: 129,499,906	A132V	probably damaging	Het
Paqr3	A	T	5: 97,103,471	H131Q	possibly damaging	Het
Pde4b	A	T	4: 102,602,812	T397S	probably benign	Het
Pon1	A	G	6: 5,168,349	C353R	probably damaging	Het
Ppie	G	A	4: 123,138,868	T43I	probably null	Het
Prr5l	A	G	2: 101,758,530	F92L	probably damaging	Het
Rai14	T	C	15: 10,575,156	Y601C	probably damaging	Het
Rasal1	A	G	5: 120,670,376	D491G	probably damaging	Het
Rbm12b1	T	A	4: 12,145,441	V471E	probably damaging	Het
Rpusd2	T	C	2: 119,038,452	L452P	possibly damaging	Het
Scgb2b24	A	T	7: 33,738,611	C24S	probably damaging	Het
Slc17a5	C	T	9: 78,538,248	V468M	possibly damaging	Het
Ubash3b	A	G	9: 41,016,627	S584P	probably benign	Het
Vps13b	C	T	15: 35,709,240	R1778C	probably damaging	Het
Ythdc2	A	G	18: 44,834,598	I220M	probably benign	Het
Zfp474	C	A	18: 52,638,404	T43K	probably damaging	Het
Zscan4-ps3	G	A	7: 11,613,334	M432I	probably benign	Het

Other mutations in Tcp10c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2397:Tcp10c	UTSW	17	13370211	missense	probably damaging	1.00
R5040:Tcp10c	UTSW	17	13368191	missense	possibly damaging	0.55
R7095:Tcp10c	UTSW	17	13355934	missense	probably benign	0.23
R7151:Tcp10c	UTSW	17	13355904	missense	possibly damaging	0.57
R7286:Tcp10c	UTSW	17	13362176	missense	possibly damaging	0.94
R7423:Tcp10c	UTSW	17	13361241	splice site	probably null
R7544:Tcp10c	UTSW	17	13360998	missense	probably damaging	0.98
R7617:Tcp10c	UTSW	17	13355838	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGCCTGGTAAGTGTCTGTCAC -3'
(R):5'- AAGGCTGTCAGGATTTACTGTC -3'

Sequencing Primer
(F):5'- GTCACTCTCTTCTACCCCAGGG -3'
(R):5'- CAGTTCTGTGTGATTTGACTGACAG -3'

Posted On

2019-06-07