Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00851:Tmod4'

14510

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmod4

Ensembl Gene

ENSMUSG00000005628

Gene Name

tropomodulin 4

Synonyms

skeletal tropomodulin, MTMOD, Sk-Tmod

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

IGL00851

Quality Score

Status

Chromosome

Chromosomal Location

95031787-95036520 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95032891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 9 (E9V)

Ref Sequence

ENSEMBL: ENSMUSP00000116341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005769] [ENSMUST00000009102] [ENSMUST00000107227] [ENSMUST00000131597] [ENSMUST00000173462] [ENSMUST00000172572]

AlphaFold

Q9JLH8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005769
AA Change: E9V

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000005769
Gene: ENSMUSG00000005628
AA Change: E9V

Domain	Start	End	E-Value	Type
Pfam:Tropomodulin	4	143	2.7e-62	PFAM
PDB:1IO0\|A	160	343	6e-77	PDB
SCOP:d1a4ya_	184	289	4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000009102

SMART Domains

Protein: ENSMUSP00000009102
Gene: ENSMUSG00000008958

Domain	Start	End	E-Value	Type
Pfam:YL1	5	216	5.1e-58	PFAM
low complexity region	247	264	N/A	INTRINSIC
YL1_C	294	323	5.99e-9	SMART
low complexity region	335	358	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107227
AA Change: E9V

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102846
Gene: ENSMUSG00000005628
AA Change: E9V

Domain	Start	End	E-Value	Type
Pfam:Tropomodulin	1	144	4.4e-72	PFAM
PDB:1IO0\|A	160	343	6e-77	PDB
SCOP:d1a4ya_	184	289	4e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130545

Predicted Effect

probably damaging
Transcript: ENSMUST00000131597
AA Change: E9V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000116341
Gene: ENSMUSG00000005628
AA Change: E9V

Domain	Start	End	E-Value	Type
Pfam:Tropomodulin	1	144	1.5e-72	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135867

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196728

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199730

Predicted Effect

probably benign
Transcript: ENSMUST00000173462

SMART Domains

Protein: ENSMUSP00000133769
Gene: ENSMUSG00000092607

Domain	Start	End	E-Value	Type
Blast:ZnF_C2H2	42	68	2e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000172572

SMART Domains

Protein: ENSMUSP00000134337
Gene: ENSMUSG00000092607

Domain	Start	End	E-Value	Type
Pfam:zf-SCNM1	44	70	7.6e-19	PFAM
low complexity region	133	148	N/A	INTRINSIC
low complexity region	172	179	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and exhibit no overt myopathy, with normal thin filament lengths, myofibril organization, and skeletal muscle contractile function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,939,230 (GRCm39)	F208S	probably damaging	Het
Ank3	T	C	10: 69,710,663 (GRCm39)	I396T	probably damaging	Het
Atp9b	T	G	18: 80,809,125 (GRCm39)	E215A	probably damaging	Het
Ces1c	T	A	8: 93,849,745 (GRCm39)	I70F	probably benign	Het
Cntnap2	T	C	6: 46,461,006 (GRCm39)	Y681H	probably benign	Het
Diaph2	A	G	X: 128,872,296 (GRCm39)	K631R	unknown	Het
Gprasp2	A	G	X: 134,744,500 (GRCm39)	T620A	probably damaging	Het
Hgd	C	T	16: 37,452,057 (GRCm39)	S403F	probably damaging	Het
Hmcn1	T	C	1: 150,458,052 (GRCm39)	K5245E	probably benign	Het
Kng2	T	C	16: 22,847,580 (GRCm39)	D27G	probably damaging	Het
Myh1	C	T	11: 67,108,736 (GRCm39)	T1384M	probably damaging	Het
Myo1f	A	T	17: 33,800,938 (GRCm39)	M260L	probably benign	Het
Plcb2	A	G	2: 118,558,732 (GRCm39)	I24T	probably benign	Het
Prdx1	C	T	4: 116,550,147 (GRCm39)	R110C	probably benign	Het
Ptges3l	T	C	11: 101,314,616 (GRCm39)	E93G	possibly damaging	Het
Ralgapa1	T	C	12: 55,756,360 (GRCm39)	D1126G	possibly damaging	Het
Rbm48	T	C	5: 3,641,739 (GRCm39)	T169A	probably damaging	Het
Serpinb3b	T	A	1: 107,087,435 (GRCm39)	N25Y	probably damaging	Het
Tekt3	T	C	11: 62,961,226 (GRCm39)	Y132H	probably benign	Het

Other mutations in Tmod4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01339:Tmod4	APN	3	95,035,608 (GRCm39)	missense	probably benign	0.23
IGL01785:Tmod4	APN	3	95,032,929 (GRCm39)	missense	probably benign
IGL02160:Tmod4	APN	3	95,036,424 (GRCm39)	unclassified	probably benign
IGL02303:Tmod4	APN	3	95,032,953 (GRCm39)	missense	probably benign	0.24
2107:Tmod4	UTSW	3	95,037,479 (GRCm39)	splice site	probably null
R0042:Tmod4	UTSW	3	95,037,099 (GRCm39)	missense	possibly damaging	0.90
R1515:Tmod4	UTSW	3	95,035,990 (GRCm39)	missense	possibly damaging	0.76
R4210:Tmod4	UTSW	3	95,035,140 (GRCm39)	missense	probably benign	0.00
R4211:Tmod4	UTSW	3	95,035,140 (GRCm39)	missense	probably benign	0.00
R6093:Tmod4	UTSW	3	95,032,929 (GRCm39)	missense	probably benign
R6181:Tmod4	UTSW	3	95,035,118 (GRCm39)	missense	probably damaging	1.00
R6294:Tmod4	UTSW	3	95,035,617 (GRCm39)	missense	probably benign	0.05
R6351:Tmod4	UTSW	3	95,035,164 (GRCm39)	missense	probably damaging	1.00
R7417:Tmod4	UTSW	3	95,033,174 (GRCm39)	missense	possibly damaging	0.87
R7806:Tmod4	UTSW	3	95,034,915 (GRCm39)	missense	probably benign	0.00
R8272:Tmod4	UTSW	3	95,033,171 (GRCm39)	missense	probably damaging	0.99
R8921:Tmod4	UTSW	3	95,033,289 (GRCm39)	critical splice donor site	probably null
R9508:Tmod4	UTSW	3	95,034,713 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-06