Mutagenetix > Incidental Mutation

Incidental Mutation 'R9161:Tcap'

695714

Institutional Source

Beutler Lab

Gene Symbol

Tcap

Ensembl Gene

ENSMUSG00000007877

Gene Name

titin-cap

Synonyms

Telethonin

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98274637-98275779 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 98275256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 130 (R130L)

Ref Sequence

ENSEMBL: ENSMUSP00000008021 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008021] [ENSMUST00000018311] [ENSMUST00000041301] [ENSMUST00000090827]

AlphaFold

O70548

Predicted Effect

probably damaging
Transcript: ENSMUST00000008021
AA Change: R130L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000008021
Gene: ENSMUSG00000007877
AA Change: R130L

Domain	Start	End	E-Value	Type
Pfam:Telethonin	3	167	7.7e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000018311

SMART Domains

Protein: ENSMUSP00000018311
Gene: ENSMUSG00000018167

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
Pfam:MENTAL	48	214	1.1e-65	PFAM
START	240	445	4.43e-67	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000041301

SMART Domains

Protein: ENSMUSP00000035549
Gene: ENSMUSG00000038216

Domain	Start	End	E-Value	Type
Pfam:NNMT_PNMT_TEMT	25	290	1.2e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090827

SMART Domains

Protein: ENSMUSP00000088337
Gene: ENSMUSG00000038208

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Per1	54	306	6.3e-96	PFAM

Meta Mutation Damage Score

0.7091

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Sarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1-Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly. Mutations in this gene are associated with limb-girdle muscular dystrophy type 2G. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit skeletal muscle atrophy, myopathy, increased muscle stiffness, and impaired coordination. Mice homozygous for another knock-out allele exhibit increased response to transverse aortic constriction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	A	8: 13,272,270 (GRCm39)	N1496I	probably damaging	Het
Arglu1	T	C	8: 8,733,941 (GRCm39)	E125G	possibly damaging	Het
Atad2	A	T	15: 57,989,185 (GRCm39)	I225N	possibly damaging	Het
Atrn	T	C	2: 130,777,470 (GRCm39)	F173S	probably damaging	Het
BC024063	T	A	10: 81,945,044 (GRCm39)	H221Q	probably benign	Het
Bnip5	T	A	17: 29,128,387 (GRCm39)	K175N	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cdh24	A	T	14: 54,876,097 (GRCm39)	Y182N	probably damaging	Het
Cdkl4	A	G	17: 80,851,120 (GRCm39)	L194P	probably damaging	Het
Cep152	T	A	2: 125,408,574 (GRCm39)	R1327*	probably null	Het
Ckap5	A	T	2: 91,445,653 (GRCm39)	M1797L	probably benign	Het
Clasp1	A	T	1: 118,474,651 (GRCm39)	N895I	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cotl1	G	T	8: 120,549,456 (GRCm39)	D85E	probably benign	Het
Cryba4	A	C	5: 112,396,039 (GRCm39)		probably null	Het
Dync1h1	A	G	12: 110,625,023 (GRCm39)	K3817E	probably benign	Het
Ehd3	A	T	17: 74,134,480 (GRCm39)	R280*	probably null	Het
Erp29	T	C	5: 121,583,146 (GRCm39)	E260G	possibly damaging	Het
Fam135b	T	A	15: 71,334,417 (GRCm39)	R926W	possibly damaging	Het
Fbn1	T	C	2: 125,192,270 (GRCm39)	N1413S	probably damaging	Het
Fbxw8	A	G	5: 118,251,727 (GRCm39)	V262A	probably damaging	Het
Gabrb1	A	G	5: 72,187,199 (GRCm39)	D164G	probably damaging	Het
Galnt15	T	A	14: 31,780,116 (GRCm39)	I471N	probably damaging	Het
Get1	A	T	16: 95,953,139 (GRCm39)	R77W	probably damaging	Het
Gon4l	A	G	3: 88,808,955 (GRCm39)	N1733S	probably damaging	Het
Hmcn2	A	G	2: 31,242,758 (GRCm39)	T562A	probably benign	Het
Inha	A	G	1: 75,484,144 (GRCm39)	I85V	probably damaging	Het
Kif28	A	C	1: 179,526,244 (GRCm39)	V897G	probably benign	Het
Map1s	G	A	8: 71,366,250 (GRCm39)	R385H	probably damaging	Het
Map2	T	C	1: 66,477,503 (GRCm39)	V1750A	possibly damaging	Het
Mbd1	C	T	18: 74,407,792 (GRCm39)	P273L	probably benign	Het
Megf6	A	G	4: 154,352,172 (GRCm39)	T1226A	probably benign	Het
Muc5ac	T	A	7: 141,353,026 (GRCm39)	C791S	possibly damaging	Het
Nlrc5	A	C	8: 95,213,274 (GRCm39)	H883P	probably damaging	Het
Nrip3	C	T	7: 109,365,777 (GRCm39)	R91H	probably damaging	Het
Or10w1	G	A	19: 13,632,038 (GRCm39)	V82M	probably damaging	Het
Or12j3	C	T	7: 139,952,989 (GRCm39)	C178Y	probably damaging	Het
Or51a10	C	A	7: 103,699,725 (GRCm39)		probably benign	Het
Or8g21	A	T	9: 38,905,816 (GRCm39)	I305K	possibly damaging	Het
Or8k16	A	G	2: 85,520,231 (GRCm39)	T153A	probably benign	Het
Pdgfrb	T	G	18: 61,197,053 (GRCm39)	L163R	probably damaging	Het
Pik3ip1	G	T	11: 3,281,945 (GRCm39)	R34L	possibly damaging	Het
Pip4k2b	A	G	11: 97,615,245 (GRCm39)	F205S	possibly damaging	Het
Pttg1ip	A	C	10: 77,425,487 (GRCm39)	N60T	probably benign	Het
Rab3ip	C	T	10: 116,750,066 (GRCm39)	E356K	probably damaging	Het
Rai1	A	G	11: 60,076,682 (GRCm39)	N249D	probably benign	Het
Rd3l	T	C	12: 111,946,753 (GRCm39)	K8E	probably damaging	Het
Rnf32	A	G	5: 29,408,058 (GRCm39)	K96E	probably damaging	Het
Rsf1	GGCG	GGCGACCGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Slc4a1ap	A	G	5: 31,685,474 (GRCm39)	K251E		Het
Spink5	T	A	18: 44,147,986 (GRCm39)	N875K	probably damaging	Het
Taf6	G	T	5: 138,178,160 (GRCm39)	A447D	probably benign	Het
Tbxas1	A	T	6: 38,999,989 (GRCm39)	I259F	probably damaging	Het
Tyms	T	C	5: 30,266,040 (GRCm39)	E293G		Het
Vmn1r20	C	A	6: 57,408,759 (GRCm39)	F28L	probably benign	Het
Vmn2r120	A	T	17: 57,831,864 (GRCm39)	D308E		Het
Vmn2r69	T	A	7: 85,056,177 (GRCm39)	I654F	possibly damaging	Het
Zfp990	G	T	4: 145,261,509 (GRCm39)	V52L	possibly damaging	Het

Other mutations in Tcap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1845:Tcap	UTSW	11	98,275,205 (GRCm39)	missense	probably damaging	1.00
R5902:Tcap	UTSW	11	98,274,673 (GRCm39)	start codon destroyed	probably benign	0.00
R6474:Tcap	UTSW	11	98,275,003 (GRCm39)	missense	probably benign	0.03
R8252:Tcap	UTSW	11	98,275,171 (GRCm39)	missense	probably benign	0.00
R8822:Tcap	UTSW	11	98,275,264 (GRCm39)	missense	probably benign	0.01
R9750:Tcap	UTSW	11	98,275,228 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGAGGCATGAGACCTACCAC -3'
(R):5'- AAGTGCCTAGCCTGAGACAG -3'

Sequencing Primer
(F):5'- TGGTACAGCGCTCACCATG -3'
(R):5'- GACACAGTGGAGTCTGAGTCACAC -3'

Posted On

2022-01-20