Mutagenetix > Incidental Mutation

Incidental Mutation 'R7385:Tnni2'

573030

Institutional Source

Beutler Lab

Gene Symbol

Tnni2

Ensembl Gene

ENSMUSG00000031097

Gene Name

troponin I, skeletal, fast 2

Synonyms

MMRRC Submission

045467-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7385 (G1)

Quality Score

139.008

Status

Validated

Chromosome

Chromosomal Location

141995553-141998147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141996915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 8 (N8S)

Ref Sequence

ENSEMBL: ENSMUSP00000101591 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097939] [ENSMUST00000105971] [ENSMUST00000105973] [ENSMUST00000105976] [ENSMUST00000105977] [ENSMUST00000118276] [ENSMUST00000122393] [ENSMUST00000145287] [ENSMUST00000149529] [ENSMUST00000210239] [ENSMUST00000210746]

AlphaFold

P13412

Predicted Effect

probably benign
Transcript: ENSMUST00000097939

SMART Domains

Protein: ENSMUSP00000095552
Gene: ENSMUSG00000031098

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
C2	123	222	1.86e-15	SMART
C2	251	361	8.69e-16	SMART
low complexity region	380	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105971
AA Change: N8S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101591
Gene: ENSMUSG00000031097
AA Change: N8S

Domain	Start	End	E-Value	Type
Pfam:Troponin	15	145	1.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105973
AA Change: N3S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000101593
Gene: ENSMUSG00000031097
AA Change: N3S

Domain	Start	End	E-Value	Type
Pfam:Troponin	10	153	1.9e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105976

SMART Domains

Protein: ENSMUSP00000101596
Gene: ENSMUSG00000031098

Domain	Start	End	E-Value	Type
transmembrane domain	37	59	N/A	INTRINSIC
C2	123	222	1.86e-15	SMART
C2	251	361	8.69e-16	SMART
low complexity region	380	388	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105977

SMART Domains

Protein: ENSMUSP00000101597
Gene: ENSMUSG00000031098

Domain	Start	End	E-Value	Type
Pfam:UPF0560	14	88	2.7e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118276

SMART Domains

Protein: ENSMUSP00000113545
Gene: ENSMUSG00000031098

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
C2	129	228	1.86e-15	SMART
C2	257	367	8.69e-16	SMART
low complexity region	386	394	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122393

SMART Domains

Protein: ENSMUSP00000112689
Gene: ENSMUSG00000031098

Domain	Start	End	E-Value	Type
transmembrane domain	43	65	N/A	INTRINSIC
C2	129	228	1.86e-15	SMART
C2	257	367	8.69e-16	SMART
low complexity region	386	394	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145287
AA Change: N8S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121819
Gene: ENSMUSG00000031097
AA Change: N8S

Domain	Start	End	E-Value	Type
Pfam:Troponin	15	135	4.2e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149529
AA Change: N8S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122733
Gene: ENSMUSG00000031097
AA Change: N8S

Domain	Start	End	E-Value	Type
Pfam:Troponin	15	145	1.1e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210239
AA Change: N3S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000210746

Meta Mutation Damage Score

0.0590

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	T	C	1: 179,580,946 (GRCm39)	E1752G	possibly damaging	Het
Aqp3	T	C	4: 41,095,178 (GRCm39)	T68A	probably damaging	Het
Arhgap40	A	G	2: 158,385,147 (GRCm39)	K463R	probably damaging	Het
Asb10	A	T	5: 24,738,736 (GRCm39)	C440*	probably null	Het
Bach1	A	G	16: 87,526,385 (GRCm39)	T616A	probably damaging	Het
Braf	T	A	6: 39,642,042 (GRCm39)		probably null	Het
Cacna1s	A	T	1: 136,020,371 (GRCm39)	N803Y	probably damaging	Het
Cald1	A	G	6: 34,663,000 (GRCm39)	E21G	probably damaging	Het
Caskin1	G	T	17: 24,722,898 (GRCm39)	G589C	probably damaging	Het
Cdc37l1	T	C	19: 28,968,071 (GRCm39)		probably null	Het
Cntnap5b	G	A	1: 100,306,815 (GRCm39)	G844D	probably damaging	Het
Col5a1	T	C	2: 27,914,762 (GRCm39)	L1615P	unknown	Het
Cpt1a	C	A	19: 3,430,155 (GRCm39)	P672T	probably damaging	Het
Defb22	A	G	2: 152,328,117 (GRCm39)	Y23H	probably damaging	Het
Depdc1b	G	C	13: 108,500,166 (GRCm39)	K226N	probably damaging	Het
Derl2	A	G	11: 70,909,764 (GRCm39)		probably benign	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dsg3	C	A	18: 20,673,254 (GRCm39)	T975K	possibly damaging	Het
Eif4enif1	T	A	11: 3,170,269 (GRCm39)	D107E	probably damaging	Het
Fut11	A	G	14: 20,746,325 (GRCm39)	D389G	probably damaging	Het
Gopc	C	T	10: 52,225,328 (GRCm39)	G299E	probably damaging	Het
Gprin1	T	C	13: 54,886,423 (GRCm39)	D617G	probably benign	Het
Grin2d	A	G	7: 45,506,960 (GRCm39)	V505A	probably damaging	Het
Heatr6	T	C	11: 83,650,161 (GRCm39)	Y206H	probably damaging	Het
Hhex	C	A	19: 37,425,713 (GRCm39)	N147K	probably damaging	Het
Igkv4-80	G	A	6: 68,993,699 (GRCm39)	S64F	probably damaging	Het
Jakmip3	A	G	7: 138,625,068 (GRCm39)	K360R	possibly damaging	Het
Kat5	AG	A	19: 5,658,297 (GRCm39)		probably null	Het
Kat5	T	A	19: 5,658,302 (GRCm39)	N191I	probably benign	Het
Kifc5b	A	G	17: 27,144,597 (GRCm39)	D572G	probably damaging	Het
Lrp5	C	A	19: 3,662,197 (GRCm39)		probably null	Het
Lrtm1	A	G	14: 28,749,673 (GRCm39)	M345V	probably benign	Het
Mbd5	T	C	2: 49,162,461 (GRCm39)	V981A	probably benign	Het
Mier3	G	A	13: 111,841,783 (GRCm39)	G115S	possibly damaging	Het
Mrgprd	A	G	7: 144,875,261 (GRCm39)	N44S	probably damaging	Het
Mrps10	C	A	17: 47,689,146 (GRCm39)	P181Q	probably damaging	Het
Myot	T	A	18: 44,470,075 (GRCm39)	C17*	probably null	Het
Myt1	A	G	2: 181,409,498 (GRCm39)		probably null	Het
Ncoa6	C	A	2: 155,249,721 (GRCm39)	L1194F	probably damaging	Het
Or4d11	T	C	19: 12,013,363 (GRCm39)	T248A	probably benign	Het
Or4d6	T	C	19: 12,086,061 (GRCm39)	N57S	probably damaging	Het
Or4e5	T	C	14: 52,727,638 (GRCm39)	Y261C	probably damaging	Het
Or7a39	C	A	10: 78,715,288 (GRCm39)	T94K	probably damaging	Het
Or7e165	T	A	9: 19,694,507 (GRCm39)	I26N	possibly damaging	Het
Osbpl6	G	A	2: 76,379,794 (GRCm39)	G128E	probably damaging	Het
P3h3	A	T	6: 124,832,233 (GRCm39)	Y218N	probably damaging	Het
Paxip1	A	G	5: 27,986,418 (GRCm39)		probably null	Het
Pdia5	T	C	16: 35,250,284 (GRCm39)	Y225C	probably damaging	Het
Pik3c2g	T	G	6: 139,801,079 (GRCm39)	M526R		Het
Prox1	A	G	1: 189,894,323 (GRCm39)	F41L	probably benign	Het
Psd3	A	T	8: 68,453,408 (GRCm39)	F284I	probably damaging	Het
Rev3l	T	A	10: 39,699,678 (GRCm39)	C1392S	probably benign	Het
Rfxank	A	T	8: 70,587,285 (GRCm39)	V212E	probably damaging	Het
Ros1	T	C	10: 52,031,222 (GRCm39)	D482G	probably benign	Het
Sat2	A	T	11: 69,513,763 (GRCm39)	I94F	probably damaging	Het
Scarf2	T	C	16: 17,621,702 (GRCm39)	L384P	probably damaging	Het
Sec14l2	C	A	11: 4,066,750 (GRCm39)	E21*	probably null	Het
Slitrk5	T	A	14: 111,918,131 (GRCm39)	V585E	probably benign	Het
Spata31h1	T	A	10: 82,123,571 (GRCm39)	E3146D	probably benign	Het
Spata31h1	T	C	10: 82,123,729 (GRCm39)	S3094G	probably benign	Het
Tas2r130	T	A	6: 131,607,226 (GRCm39)	M190L	probably benign	Het
Ticrr	G	A	7: 79,341,597 (GRCm39)	S1061N	possibly damaging	Het
Tlr9	C	A	9: 106,102,463 (GRCm39)	H585N	probably damaging	Het
Tmem219	A	T	7: 126,495,947 (GRCm39)	I142N	probably damaging	Het
Tnpo2	G	A	8: 85,776,748 (GRCm39)	R485H	probably damaging	Het
Ttc8	A	G	12: 98,908,547 (GRCm39)	E72G	possibly damaging	Het
Upf1	A	G	8: 70,793,268 (GRCm39)	Y297H	probably damaging	Het
Vmn1r4	A	G	6: 56,933,721 (GRCm39)	K75R	probably damaging	Het
Vmn2r78	G	A	7: 86,571,633 (GRCm39)	G481D	probably benign	Het
Vmn2r96	A	G	17: 18,803,302 (GRCm39)	Y404C	probably damaging	Het
Vps50	T	A	6: 3,602,708 (GRCm39)	S942T	probably benign	Het
Xkr7	C	A	2: 152,895,983 (GRCm39)	S279*	probably null	Het
Zan	G	A	5: 137,432,416 (GRCm39)	Q2294*	probably null	Het
Zan	T	C	5: 137,448,753 (GRCm39)	Y1700C	unknown	Het

Other mutations in Tnni2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02272:Tnni2	APN	7	141,997,166 (GRCm39)	missense	possibly damaging	0.83
R4925:Tnni2	UTSW	7	141,996,430 (GRCm39)	missense	probably benign	0.25
R5213:Tnni2	UTSW	7	141,997,039 (GRCm39)	splice site	probably null
R5646:Tnni2	UTSW	7	141,997,650 (GRCm39)	missense	probably damaging	1.00
R6643:Tnni2	UTSW	7	141,998,016 (GRCm39)	missense	probably damaging	1.00
R8037:Tnni2	UTSW	7	141,997,691 (GRCm39)	missense	probably damaging	1.00
R9002:Tnni2	UTSW	7	141,998,013 (GRCm39)	missense	probably damaging	1.00
R9335:Tnni2	UTSW	7	141,998,003 (GRCm39)	missense	probably damaging	0.99
R9339:Tnni2	UTSW	7	141,997,672 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCCCTATGTACCACCTAAGC -3'
(R):5'- GCAGTGTTCTGACAGGTAGTTC -3'

Sequencing Primer
(F):5'- TGTACCACCTAAGCAAAGAGTCAGG -3'
(R):5'- GACAGGTAGTTCTCCTTCTCAG -3'

Posted On

2019-09-13