Mutagenetix > Incidental Mutation

Incidental Mutation 'R9217:Tnnt1'

699250

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

Accession Numbers

Essential gene?

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

Stock #

R9217 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4507568-4518974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4513381 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 42 (S42G)

Ref Sequence

ENSEMBL: ENSMUSP00000137198 (fasta)

Gene Model

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

AlphaFold

O88346

Predicted Effect

probably benign
Transcript: ENSMUST00000071798

SMART Domains

Protein: ENSMUSP00000071704
Gene: ENSMUSG00000064179

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

probably benign
Transcript: ENSMUST00000108587

SMART Domains

Protein: ENSMUSP00000104228
Gene: ENSMUSG00000064179

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

probably benign
Transcript: ENSMUST00000163538

SMART Domains

Protein: ENSMUSP00000127964
Gene: ENSMUSG00000064179

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

probably benign
Transcript: ENSMUST00000163710

SMART Domains

Protein: ENSMUSP00000129626
Gene: ENSMUSG00000064179

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

probably benign
Transcript: ENSMUST00000163722

SMART Domains

Protein: ENSMUSP00000129409
Gene: ENSMUSG00000064179

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166161

SMART Domains

Protein: ENSMUSP00000125795
Gene: ENSMUSG00000064179

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

probably benign
Transcript: ENSMUST00000178163
AA Change: S42G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137198
Gene: ENSMUSG00000064179
AA Change: S42G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166268

SMART Domains

Protein: ENSMUSP00000128476
Gene: ENSMUSG00000064179

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166959

SMART Domains

Protein: ENSMUSP00000129109
Gene: ENSMUSG00000064179

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

97% (59/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	T	C	6: 92,808,967 (GRCm39)	V98A	unknown	Het
Abca15	A	T	7: 119,987,439 (GRCm39)	M1242L	probably benign	Het
Abcb9	G	A	5: 124,214,090 (GRCm39)	R576C	possibly damaging	Het
Abl2	A	G	1: 156,452,902 (GRCm39)	S146G	probably damaging	Het
Aga	G	A	8: 53,966,627 (GRCm39)	G60S	probably damaging	Het
Amigo1	T	A	3: 108,095,944 (GRCm39)	V481D	probably damaging	Het
Ano5	C	A	7: 51,243,415 (GRCm39)	P846Q	probably damaging	Het
Ccdc62	C	A	5: 124,092,470 (GRCm39)	T485K	probably benign	Het
Cd177	A	T	7: 24,445,550 (GRCm39)	I631K	possibly damaging	Het
Chil6	T	A	3: 106,313,411 (GRCm39)		probably benign	Het
Clip1	A	G	5: 123,717,441 (GRCm39)	S1283P	probably damaging	Het
Cpt1a	G	A	19: 3,425,111 (GRCm39)	V493I	probably benign	Het
Dcbld1	T	A	10: 52,138,028 (GRCm39)	D97E	probably benign	Het
Decr1	G	A	4: 15,930,969 (GRCm39)	P121L	probably damaging	Het
Ehmt1	A	T	2: 24,729,578 (GRCm39)	L661Q	probably benign	Het
Eif2d	A	G	1: 131,085,972 (GRCm39)	M156V	possibly damaging	Het
Ermn	A	T	2: 57,938,010 (GRCm39)	I201K	probably damaging	Het
Etfbkmt	T	C	6: 149,045,663 (GRCm39)	C6R	probably benign	Het
Evx2	A	T	2: 74,488,109 (GRCm39)		probably null	Het
Fam222a	T	C	5: 114,748,905 (GRCm39)	S34P	probably benign	Het
Fmo6	A	T	1: 162,748,046 (GRCm39)	D339E	probably benign	Het
Fubp1	T	C	3: 151,923,873 (GRCm39)	S142P	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gnb1	A	T	4: 155,625,033 (GRCm39)	Q75L	probably damaging	Het
Gucy2e	C	T	11: 69,126,778 (GRCm39)	A232T	possibly damaging	Het
Haspin	A	T	11: 73,026,936 (GRCm39)	C718S	probably benign	Het
Iqcd	C	T	5: 120,738,707 (GRCm39)	P175L	possibly damaging	Het
Jph1	T	A	1: 17,167,632 (GRCm39)	Q66L	probably benign	Het
Kank1	G	T	19: 25,386,944 (GRCm39)	D206Y	possibly damaging	Het
Klf14	T	C	6: 30,935,470 (GRCm39)	T55A	probably benign	Het
Lclat1	T	C	17: 73,494,879 (GRCm39)	M125T	probably damaging	Het
Lgr5	T	A	10: 115,423,349 (GRCm39)	Q17L	probably benign	Het
Lrmda	A	G	14: 22,648,361 (GRCm39)	I64V	unknown	Het
Lrrc15	A	G	16: 30,092,415 (GRCm39)	L308P	probably damaging	Het
Lyst	C	A	13: 13,871,245 (GRCm39)	Q2661K	probably benign	Het
Map3k21	T	A	8: 126,638,027 (GRCm39)	D204E	possibly damaging	Het
Msln	T	C	17: 25,970,125 (GRCm39)	I277V	probably benign	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nup153	G	A	13: 46,835,138 (GRCm39)	T1389M	probably damaging	Het
Or8c10	A	G	9: 38,279,268 (GRCm39)	Y132C	probably damaging	Het
Plcd1	T	C	9: 118,901,723 (GRCm39)		probably null	Het
Plce1	C	T	19: 38,748,551 (GRCm39)	R1761C	probably damaging	Het
Prrc2b	T	C	2: 32,103,414 (GRCm39)	L964P	probably damaging	Het
Prss43	T	C	9: 110,656,564 (GRCm39)	S84P	possibly damaging	Het
Rffl	T	C	11: 82,703,633 (GRCm39)	T97A	possibly damaging	Het
Riok2	G	C	17: 17,598,057 (GRCm39)	G48A	possibly damaging	Het
Sec24a	A	G	11: 51,617,331 (GRCm39)	M488T	probably benign	Het
Setdb2	C	T	14: 59,646,881 (GRCm39)	D545N	possibly damaging	Het
Slc39a4	T	A	15: 76,498,126 (GRCm39)	H400L	possibly damaging	Het
St7	T	A	6: 17,846,271 (GRCm39)	F175I	probably damaging	Het
Syne1	T	A	10: 5,299,324 (GRCm39)	D977V	probably damaging	Het
Tenm4	C	T	7: 96,534,646 (GRCm39)	T1801I	probably damaging	Het
Terf1	C	T	1: 15,883,295 (GRCm39)	T136I	probably damaging	Het
Trappc8	A	G	18: 21,000,822 (GRCm39)	V287A	probably benign	Het
Ttc3	T	A	16: 94,230,467 (GRCm39)	I870K	possibly damaging	Het
Ttn	A	T	2: 76,574,389 (GRCm39)	N25501K	possibly damaging	Het
Unc13c	A	T	9: 73,485,715 (GRCm39)	W1662R	probably damaging	Het
Wdr47	T	A	3: 108,525,890 (GRCm39)	C138S	probably damaging	Het
Zfp458	A	G	13: 67,408,298 (GRCm39)	S6P	probably damaging	Het
Zfp668	A	C	7: 127,465,804 (GRCm39)	L460*	probably null	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
R4624:Tnnt1	UTSW	7	4,515,267 (GRCm39)	intron	probably benign
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
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'- CCCCAGGGTTTTCATGAAGG -3'
(R):5'- GAGCATTCAATATATGGCCTCGTATG -3'

Sequencing Primer
(F):5'- GAAGCATAGAAGGGCACTTTTC -3'
(R):5'- TAGATTCTCTCTAGACCAGGCAGG -3'

Posted On

2022-02-07