Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02272:Tnni2'

287166

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnni2

Ensembl Gene

ENSMUSG00000031097

Gene Name

troponin I, skeletal, fast 2

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02272

Quality Score

Status

Chromosome

Chromosomal Location

141995553-141998147 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 141997166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 52 (Q52K)

Ref Sequence

ENSEMBL: ENSMUSP00000147719 (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

possibly damaging
Transcript: ENSMUST00000105971
AA Change: Q62K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101591
Gene: ENSMUSG00000031097
AA Change: Q62K

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

Predicted Effect

unknown
Transcript: ENSMUST00000105973
AA Change: Q57K

SMART Domains

Protein: ENSMUSP00000101593
Gene: ENSMUSG00000031097
AA Change: Q57K

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

possibly damaging
Transcript: ENSMUST00000145287
AA Change: Q62K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121819
Gene: ENSMUSG00000031097
AA Change: Q62K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149529
AA Change: Q62K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122733
Gene: ENSMUSG00000031097
AA Change: Q62K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210239
AA Change: Q52K

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129618

Predicted Effect

probably benign
Transcript: ENSMUST00000210746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148896

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145964

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124963

Coding Region Coverage

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre1	T	A	17: 57,757,021 (GRCm39)	C759*	probably null	Het
Adgrg6	T	A	10: 14,344,573 (GRCm39)	M127L	probably damaging	Het
Anxa9	A	G	3: 95,213,205 (GRCm39)	V47A	probably benign	Het
Arhgef12	T	A	9: 42,912,748 (GRCm39)	D483V	probably damaging	Het
Arrdc3	C	A	13: 81,039,769 (GRCm39)		probably benign	Het
Ccdc169	A	G	3: 55,058,169 (GRCm39)	E67G	probably damaging	Het
Ccdc191	T	A	16: 43,780,385 (GRCm39)	V731D	possibly damaging	Het
Cdh3	G	T	8: 107,274,468 (GRCm39)		probably null	Het
Cntnap1	G	A	11: 101,069,142 (GRCm39)	V199M	probably damaging	Het
Cntnap3	A	T	13: 64,905,225 (GRCm39)	V852E	probably damaging	Het
Csmd1	A	T	8: 16,249,907 (GRCm39)	S1024T	probably damaging	Het
Cyp3a25	T	C	5: 145,930,075 (GRCm39)		probably benign	Het
Dusp6	T	A	10: 99,101,881 (GRCm39)	V289D	probably damaging	Het
Ecpas	A	T	4: 58,811,731 (GRCm39)	N1439K	probably benign	Het
Epha6	C	T	16: 59,639,300 (GRCm39)	R858Q	probably damaging	Het
Flrt2	T	A	12: 95,746,478 (GRCm39)	F272Y	probably damaging	Het
Gbf1	T	A	19: 46,258,242 (GRCm39)	W846R	probably damaging	Het
Gtpbp2	T	A	17: 46,475,707 (GRCm39)	V152E	probably benign	Het
Hmces	A	G	6: 87,894,837 (GRCm39)		probably null	Het
Hsph1	A	G	5: 149,540,995 (GRCm39)	S852P	probably benign	Het
Kat6b	A	C	14: 21,676,846 (GRCm39)	K394Q	probably damaging	Het
Kdr	G	A	5: 76,122,500 (GRCm39)	T475I	probably benign	Het
Klhl25	A	G	7: 75,516,368 (GRCm39)	T425A	probably benign	Het
Klk1b8	T	A	7: 43,602,217 (GRCm39)	C50S	probably damaging	Het
Kri1	T	C	9: 21,187,464 (GRCm39)	Y343C	probably damaging	Het
Lamb1	T	C	12: 31,355,768 (GRCm39)	S953P	probably benign	Het
Lpin1	A	G	12: 16,597,601 (GRCm39)	V681A	probably damaging	Het
Lpin3	A	G	2: 160,743,581 (GRCm39)	T508A	probably benign	Het
Moxd1	T	A	10: 24,158,598 (GRCm39)	Y417*	probably null	Het
Mthfd1l	T	G	10: 3,991,812 (GRCm39)	I588S	probably damaging	Het
Myo5c	C	A	9: 75,173,442 (GRCm39)	N543K	possibly damaging	Het
Myo9a	T	A	9: 59,791,883 (GRCm39)		probably benign	Het
Nme8	T	C	13: 19,842,996 (GRCm39)	Y393C	probably damaging	Het
Nr2e1	T	G	10: 42,443,975 (GRCm39)	N249T	probably damaging	Het
Pex11g	A	G	8: 3,515,898 (GRCm39)	V45A	probably benign	Het
Pkhd1	C	A	1: 20,279,484 (GRCm39)	G2945W	probably damaging	Het
Plxnd1	A	G	6: 115,970,589 (GRCm39)	F393S	probably damaging	Het
Ppp3cc	A	G	14: 70,473,938 (GRCm39)	V353A	probably damaging	Het
Prss16	T	A	13: 22,187,205 (GRCm39)	Q455L	probably damaging	Het
Ptpn6	A	T	6: 124,698,171 (GRCm39)	V524E	probably damaging	Het
Rap1gap	A	G	4: 137,443,877 (GRCm39)	Y163C	probably damaging	Het
Rnf31	C	T	14: 55,836,239 (GRCm39)	L598F	probably damaging	Het
Sardh	T	G	2: 27,115,003 (GRCm39)	D550A	probably benign	Het
Serpinc1	T	G	1: 160,827,562 (GRCm39)	I387S	probably damaging	Het
Sh3d19	A	T	3: 86,028,474 (GRCm39)	D650V	probably benign	Het
Sipa1l2	T	A	8: 126,218,750 (GRCm39)	T196S	probably damaging	Het
Slc25a46	T	C	18: 31,716,621 (GRCm39)	T294A	probably benign	Het
Srrm2	T	C	17: 24,034,756 (GRCm39)		probably benign	Het
Steap2	T	A	5: 5,727,612 (GRCm39)	N241I	probably benign	Het
Tcaf3	T	C	6: 42,573,594 (GRCm39)	Y206C	probably damaging	Het
Tmem259	T	A	10: 79,814,297 (GRCm39)	Q322L	probably damaging	Het
Ttn	A	G	2: 76,565,372 (GRCm39)	V28285A	possibly damaging	Het
Uba7	T	A	9: 107,853,352 (GRCm39)	S99R	probably benign	Het
Ubxn2b	A	T	4: 6,216,071 (GRCm39)	K331N	probably damaging	Het
Usp50	G	A	2: 126,611,864 (GRCm39)	T232I	probably damaging	Het
Vmn2r116	G	A	17: 23,604,973 (GRCm39)	M95I	probably benign	Het
Vmn2r116	T	A	17: 23,604,978 (GRCm39)	L97Q	probably damaging	Het
Vmn2r24	A	T	6: 123,763,843 (GRCm39)	N240I	possibly damaging	Het
Vmn2r72	T	C	7: 85,399,901 (GRCm39)	R383G	probably benign	Het

Other mutations in Tnni2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7385:Tnni2	UTSW	7	141,996,915 (GRCm39)	missense	probably benign
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

Posted On

2015-04-16