Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01785:Tmod4'

153785

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: 0.153) question?

Stock #

IGL01785

Quality Score

Status

Chromosome

Chromosomal Location

95031787-95036520 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95032929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 22 (T22A)

Ref Sequence

ENSEMBL: ENSMUSP00000116341 (fasta)

Gene Model

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

AlphaFold

Q9JLH8

Predicted Effect

probably benign
Transcript: ENSMUST00000005769
AA Change: T22A

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

SMART Domains

Protein: ENSMUSP00000005769
Gene: ENSMUSG00000005628
AA Change: T22A

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

probably benign
Transcript: ENSMUST00000107227
AA Change: T22A

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

SMART Domains

Protein: ENSMUSP00000102846
Gene: ENSMUSG00000005628
AA Change: T22A

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 benign
Transcript: ENSMUST00000131597
AA Change: T22A

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

SMART Domains

Protein: ENSMUSP00000116341
Gene: ENSMUSG00000005628
AA Change: T22A

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: ENSMUST00000173527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174859

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174508

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196728

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

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

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,965,058 (GRCm39)	Y309*	probably null	Het
Abhd18	G	A	3: 40,860,339 (GRCm39)	R42Q	probably damaging	Het
Ano3	T	A	2: 110,513,060 (GRCm39)	Q645L	probably damaging	Het
Clasp1	T	A	1: 118,425,466 (GRCm39)	L272Q	possibly damaging	Het
Clec1b	A	G	6: 129,380,525 (GRCm39)	D115G	probably damaging	Het
Clec2e	A	T	6: 129,070,364 (GRCm39)		probably benign	Het
Corin	T	C	5: 72,497,219 (GRCm39)	N532S	probably damaging	Het
Csn1s2b	A	G	5: 87,957,772 (GRCm39)	K2R	possibly damaging	Het
Mcm8	A	G	2: 132,669,868 (GRCm39)	D314G	probably benign	Het
Mga	T	A	2: 119,733,393 (GRCm39)	D80E	probably damaging	Het
Msh4	A	G	3: 153,563,144 (GRCm39)	L744P	probably damaging	Het
Myof	A	T	19: 37,968,871 (GRCm39)	L348*	probably null	Het
Or12j3	T	A	7: 139,953,038 (GRCm39)	M162L	probably benign	Het
Or6z1	T	C	7: 6,504,899 (GRCm39)	I109V	probably benign	Het
Otud3	T	C	4: 138,624,208 (GRCm39)	D278G	probably benign	Het
Pdpr	C	A	8: 111,856,288 (GRCm39)	H670Q	probably damaging	Het
Phf21b	C	A	15: 84,692,262 (GRCm39)		probably benign	Het
Polr3a	G	A	14: 24,534,188 (GRCm39)	Q106*	probably null	Het
Ptprm	G	T	17: 66,992,618 (GRCm39)	N1366K	probably damaging	Het
Slc10a5	G	A	3: 10,400,259 (GRCm39)	P134S	probably benign	Het
Slc30a9	A	G	5: 67,503,581 (GRCm39)		probably benign	Het
Stat6	T	A	10: 127,493,096 (GRCm39)	V576D	probably damaging	Het
Tmem132d	T	C	5: 128,061,379 (GRCm39)	I408V	probably benign	Het
Tmem50a	T	C	4: 134,625,758 (GRCm39)	E153G	probably damaging	Het
Tmprss7	C	T	16: 45,500,997 (GRCm39)	G268D	probably damaging	Het
Tor1a	A	G	2: 30,853,715 (GRCm39)		probably null	Het
Trarg1	G	A	11: 76,571,292 (GRCm39)	V103I	probably benign	Het
Ttc29	T	C	8: 79,008,970 (GRCm39)	L280P	probably damaging	Het
Usp20	A	G	2: 30,907,175 (GRCm39)	E594G	probably benign	Het
Vmn1r31	A	C	6: 58,449,709 (GRCm39)	M3R	possibly damaging	Het

Other mutations in Tmod4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00851:Tmod4	APN	3	95,032,891 (GRCm39)	missense	probably damaging	1.00
IGL01339:Tmod4	APN	3	95,035,608 (GRCm39)	missense	probably benign	0.23
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

2014-02-04