Mutagenetix > Incidental Mutation

Incidental Mutation 'R4624:Tnnt1'

346411

Institutional Source

Beutler Lab

Gene Symbol

Tnnt1

Ensembl Gene

ENSMUSG00000064179

Gene Name

troponin T1, skeletal, slow

Synonyms

Tnt, ssTnT, sTnT, skeletal muscle slow-twitch TnT

MMRRC Submission

041889-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R4624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4507568-4518974 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 4515267 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071798] [ENSMUST00000108587] [ENSMUST00000163538] [ENSMUST00000163560] [ENSMUST00000163710] [ENSMUST00000163722] [ENSMUST00000166161] [ENSMUST00000166268] [ENSMUST00000166959] [ENSMUST00000178163]

AlphaFold

O88346

Predicted Effect

unknown
Transcript: ENSMUST00000071798
AA Change: P41L

SMART Domains

Protein: ENSMUSP00000071704
Gene: ENSMUSG00000064179
AA Change: P41L

Domain	Start	End	E-Value	Type
low complexity region	5	56	N/A	INTRINSIC
Pfam:Troponin	68	210	7.3e-40	PFAM
low complexity region	246	259	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000086502

Predicted Effect

unknown
Transcript: ENSMUST00000108587
AA Change: P42L

SMART Domains

Protein: ENSMUSP00000104228
Gene: ENSMUSG00000064179
AA Change: P42L

Domain	Start	End	E-Value	Type
low complexity region	5	57	N/A	INTRINSIC
Pfam:Troponin	69	205	3e-36	PFAM
Pfam:Troponin	197	260	4.8e-8	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000163538
AA Change: P41L

SMART Domains

Protein: ENSMUSP00000127964
Gene: ENSMUSG00000064179
AA Change: P41L

Domain	Start	End	E-Value	Type
low complexity region	5	56	N/A	INTRINSIC
Pfam:Troponin	68	160	4.4e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163560

Predicted Effect

unknown
Transcript: ENSMUST00000163710
AA Change: P30L

SMART Domains

Protein: ENSMUSP00000129626
Gene: ENSMUSG00000064179
AA Change: P30L

Domain	Start	End	E-Value	Type
coiled coil region	2	29	N/A	INTRINSIC
Pfam:Troponin	57	199	1.9e-39	PFAM
low complexity region	235	248	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000163722
AA Change: P49L

SMART Domains

Protein: ENSMUSP00000129409
Gene: ENSMUSG00000064179
AA Change: P49L

Domain	Start	End	E-Value	Type
low complexity region	17	64	N/A	INTRINSIC
Pfam:Troponin	76	118	1.9e-13	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000166161
AA Change: P29L

SMART Domains

Protein: ENSMUSP00000125795
Gene: ENSMUSG00000064179
AA Change: P29L

Domain	Start	End	E-Value	Type
low complexity region	5	46	N/A	INTRINSIC
Pfam:Troponin	56	198	3.4e-40	PFAM
low complexity region	234	247	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000166268
AA Change: P31L

SMART Domains

Protein: ENSMUSP00000128476
Gene: ENSMUSG00000064179
AA Change: P31L

Domain	Start	End	E-Value	Type
coiled coil region	2	28	N/A	INTRINSIC
Pfam:Troponin	58	200	1.6e-38	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000166959
AA Change: P42L

SMART Domains

Protein: ENSMUSP00000129109
Gene: ENSMUSG00000064179
AA Change: P42L

Domain	Start	End	E-Value	Type
low complexity region	5	57	N/A	INTRINSIC
Pfam:Troponin	69	192	1.5e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169571

Predicted Effect

probably benign
Transcript: ENSMUST00000178163

SMART Domains

Protein: ENSMUSP00000137198
Gene: ENSMUSG00000064179

Domain	Start	End	E-Value	Type
low complexity region	5	40	N/A	INTRINSIC
low complexity region	44	55	N/A	INTRINSIC
Pfam:Troponin	68	210	7.3e-40	PFAM
low complexity region	246	259	N/A	INTRINSIC

Meta Mutation Damage Score

0.5325

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

93% (85/91)

MGI Phenotype

FUNCTION: This gene encodes the slow skeletal tropomyosin-binding subunit of the troponin complex and plays an essential role in the regulation of striated muscle contraction. In humans, mutations in this gene are associated with nemaline myopathy type 5. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Mice homozygous for a null or hypomorphic allele show small and loss of type I slow skeletal muscle fibers with compensatory hypertrophy of type II fast fibers and reduced contractile force and tolerance of skeletal muscle fibers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,505,873 (GRCm39)	T134A	possibly damaging	Het
Adamts18	C	T	8: 114,499,800 (GRCm39)	W371*	probably null	Het
Adgb	C	A	10: 10,278,748 (GRCm39)	V267L	probably benign	Het
Akr1c13	G	T	13: 4,247,869 (GRCm39)	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Ankrd52	A	G	10: 128,225,128 (GRCm39)	H863R	probably damaging	Het
Ap3b1	A	G	13: 94,619,734 (GRCm39)	R766G	unknown	Het
Apol7c	A	G	15: 77,410,595 (GRCm39)	F117S	probably damaging	Het
Bcr	A	T	10: 74,989,752 (GRCm39)	E716V	probably damaging	Het
Borcs6	T	C	11: 68,951,423 (GRCm39)	L267P	probably damaging	Het
Ccdc184	A	T	15: 98,066,638 (GRCm39)	N148Y	probably benign	Het
Ccdc50	A	G	16: 27,255,351 (GRCm39)	K223R	probably null	Het
Cd2	T	G	3: 101,194,747 (GRCm39)	K114Q	probably benign	Het
Cdh19	T	C	1: 110,859,981 (GRCm39)	K167E	probably benign	Het
Cep131	T	C	11: 119,961,658 (GRCm39)	E558G	probably damaging	Het
Cmya5	A	T	13: 93,200,059 (GRCm39)	V3423E	probably damaging	Het
Cnot6l	A	G	5: 96,225,070 (GRCm39)	V541A	probably benign	Het
Cntn5	A	T	9: 9,704,809 (GRCm39)	C663*	probably null	Het
Dnaaf4	A	G	9: 72,871,453 (GRCm39)	I238V	probably benign	Het
Dnah12	T	C	14: 26,456,913 (GRCm39)	I893T	possibly damaging	Het
Dop1a	G	A	9: 86,403,578 (GRCm39)	V129M	probably damaging	Het
Exoc6b	A	G	6: 84,831,791 (GRCm39)		probably benign	Het
Ext2	A	G	2: 93,533,545 (GRCm39)	V671A	probably benign	Het
Fcamr	T	G	1: 130,730,999 (GRCm39)	L28R	probably damaging	Het
Fer1l6	T	C	15: 58,425,554 (GRCm39)	I144T	probably damaging	Het
Frem1	A	G	4: 82,907,343 (GRCm39)	L839P	probably damaging	Het
Fscn2	A	T	11: 120,258,169 (GRCm39)	I364F	probably benign	Het
Gm10291	T	C	3: 78,824,581 (GRCm39)		noncoding transcript	Het
Gm29125	T	C	1: 80,362,676 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,710,823 (GRCm39)	M908V	probably damaging	Het
Helz2	T	C	2: 180,881,101 (GRCm39)	E436G	probably damaging	Het
Hfe	A	T	13: 23,890,061 (GRCm39)	C149*	probably null	Het
Hs1bp3	T	C	12: 8,386,357 (GRCm39)	V253A	probably benign	Het
Kat14	A	G	2: 144,246,140 (GRCm39)		probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kcnh3	T	A	15: 99,124,253 (GRCm39)	D47E	probably damaging	Het
Kcp	A	G	6: 29,482,813 (GRCm39)	F1419L	possibly damaging	Het
Kera	A	G	10: 97,445,493 (GRCm39)	N284S	probably benign	Het
Klhl24	A	G	16: 19,938,873 (GRCm39)	D476G	probably damaging	Het
Krt79	T	A	15: 101,848,241 (GRCm39)	T137S	possibly damaging	Het
Lilrb4a	A	G	10: 51,367,584 (GRCm39)	Y42C	probably damaging	Het
Lnx1	C	T	5: 74,821,121 (GRCm39)		probably benign	Het
Map3k14	A	G	11: 103,121,927 (GRCm39)	Y497H	probably damaging	Het
Mmut	G	A	17: 41,257,946 (GRCm39)	E371K	probably damaging	Het
Nkx2-6	A	G	14: 69,412,375 (GRCm39)	Q181R	probably damaging	Het
Notch1	T	C	2: 26,368,093 (GRCm39)	K631R	possibly damaging	Het
Or5an10	C	T	19: 12,276,347 (GRCm39)	V50I	probably benign	Het
Pcdh9	T	A	14: 94,123,845 (GRCm39)	N775I	probably damaging	Het
Phkb	T	A	8: 86,575,341 (GRCm39)		probably benign	Het
Pick1	T	A	15: 79,130,666 (GRCm39)	I250N	probably damaging	Het
Plec	T	C	15: 76,059,335 (GRCm39)	E3556G	probably damaging	Het
Prex2	C	T	1: 11,359,489 (GRCm39)	Q1566*	probably null	Het
Ptgr2	T	G	12: 84,355,128 (GRCm39)	F287L	possibly damaging	Het
Ptprv	T	C	1: 135,051,869 (GRCm39)		noncoding transcript	Het
Rab5b	G	T	10: 128,519,130 (GRCm39)	H83Q	probably benign	Het
Ranbp6	A	T	19: 29,788,263 (GRCm39)	Y696*	probably null	Het
Rapgef3	G	T	15: 97,656,810 (GRCm39)	D318E	probably damaging	Het
Rmi1	A	G	13: 58,556,950 (GRCm39)	R400G	probably benign	Het
Rsrc1	T	C	3: 67,257,311 (GRCm39)	V241A	probably damaging	Het
Ryr2	A	T	13: 12,121,301 (GRCm39)	I11N	possibly damaging	Het
S100a11	T	C	3: 93,433,321 (GRCm39)	L55P	probably damaging	Het
Sec13	A	G	6: 113,706,652 (GRCm39)	S254P	probably benign	Het
Slc25a36	G	A	9: 96,961,178 (GRCm39)	T147I	probably damaging	Het
Spata31d1c	A	G	13: 65,184,411 (GRCm39)	E651G	probably benign	Het
Stox2	C	A	8: 47,646,851 (GRCm39)	R203L	probably damaging	Het
Tbc1d30	A	T	10: 121,132,691 (GRCm39)	D224E	probably damaging	Het
Tdrd6	A	G	17: 43,936,881 (GRCm39)	L1389P	probably damaging	Het
Tmprss11b	T	C	5: 86,812,895 (GRCm39)	S134G	probably benign	Het
Tmtc2	A	T	10: 105,139,511 (GRCm39)	S672T	probably benign	Het
Tpst2	A	G	5: 112,456,162 (GRCm39)	M234V	probably damaging	Het
Ttbk2	T	C	2: 120,603,804 (GRCm39)	D208G	probably benign	Het
Ube2c	A	G	2: 164,614,093 (GRCm39)	N143S	possibly damaging	Het
Unc45b	T	A	11: 82,816,835 (GRCm39)	M425K	probably benign	Het
Uvssa	G	A	5: 33,547,300 (GRCm39)	E289K	possibly damaging	Het
Vmn2r11	T	A	5: 109,200,101 (GRCm39)	R451W	probably damaging	Het
Vmn2r45	T	C	7: 8,484,341 (GRCm39)	Y488C	probably damaging	Het
Vmn2r55	T	A	7: 12,404,627 (GRCm39)	I259F	possibly damaging	Het
Wdfy3	C	T	5: 102,031,949 (GRCm39)	R2277Q	possibly damaging	Het
Wdr64	T	G	1: 175,599,829 (GRCm39)	M111R	probably benign	Het

Other mutations in Tnnt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00585:Tnnt1	APN	7	4,510,549 (GRCm39)	missense	possibly damaging	0.96
IGL01391:Tnnt1	APN	7	4,517,211 (GRCm39)	critical splice donor site	probably null
IGL01582:Tnnt1	APN	7	4,512,982 (GRCm39)	missense	probably damaging	1.00
R0098:Tnnt1	UTSW	7	4,512,044 (GRCm39)	missense	probably damaging	0.99
R0963:Tnnt1	UTSW	7	4,510,594 (GRCm39)	missense	probably damaging	1.00
R1489:Tnnt1	UTSW	7	4,510,524 (GRCm39)	nonsense	probably null
R2340:Tnnt1	UTSW	7	4,516,615 (GRCm39)	splice site	probably benign
R4224:Tnnt1	UTSW	7	4,513,006 (GRCm39)	missense	probably damaging	1.00
R4969:Tnnt1	UTSW	7	4,510,573 (GRCm39)	missense	probably damaging	1.00
R5245:Tnnt1	UTSW	7	4,513,066 (GRCm39)	missense	probably damaging	1.00
R5822:Tnnt1	UTSW	7	4,519,345 (GRCm39)	nonsense	probably null
R6520:Tnnt1	UTSW	7	4,512,060 (GRCm39)	nonsense	probably null
R6556:Tnnt1	UTSW	7	4,512,576 (GRCm39)	missense	probably damaging	1.00
R6573:Tnnt1	UTSW	7	4,517,333 (GRCm39)	splice site	probably null
R6838:Tnnt1	UTSW	7	4,510,406 (GRCm39)	missense	possibly damaging	0.94
R7318:Tnnt1	UTSW	7	4,513,547 (GRCm39)	splice site	probably null
R7889:Tnnt1	UTSW	7	4,511,582 (GRCm39)	missense	probably damaging	1.00
R8405:Tnnt1	UTSW	7	4,510,592 (GRCm39)	missense	probably damaging	0.98
R9217:Tnnt1	UTSW	7	4,513,381 (GRCm39)	missense	probably benign	0.18
R9621:Tnnt1	UTSW	7	4,511,501 (GRCm39)	missense	probably benign	0.08
X0010:Tnnt1	UTSW	7	4,512,970 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATGGTTTTCTAGAACCCAGGC -3'
(R):5'- ATGTCTGATGCGAGTGACC -3'

Sequencing Primer
(F):5'- ACCCAGGCTGTTATTTTTATATCTG -3'
(R):5'- CTGGGTTTCCTCTTAAGGA -3'

Posted On

2015-09-25