Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03243:Tmem30c'

414310

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmem30c

Ensembl Gene

ENSMUSG00000022753

Gene Name

transmembrane protein 30C

Synonyms

4933409A18Rik, 4933401B01Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL03243

Quality Score

Status

Chromosome

Chromosomal Location

57266139-57292865 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57276150 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 203 (S203T)

Ref Sequence

ENSEMBL: ENSMUSP00000113896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023434] [ENSMUST00000119407] [ENSMUST00000120112]

Predicted Effect

probably benign
Transcript: ENSMUST00000023434
AA Change: S203T

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

SMART Domains

Protein: ENSMUSP00000023434
Gene: ENSMUSG00000022753
AA Change: S203T

Domain	Start	End	E-Value	Type
Pfam:CDC50	54	339	2.7e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119407
AA Change: S203T

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

SMART Domains

Protein: ENSMUSP00000112989
Gene: ENSMUSG00000022753
AA Change: S203T

Domain	Start	End	E-Value	Type
Pfam:CDC50	53	340	2.6e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120112
AA Change: S203T

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

SMART Domains

Protein: ENSMUSP00000113896
Gene: ENSMUSG00000022753
AA Change: S203T

Domain	Start	End	E-Value	Type
Pfam:CDC50	53	283	9.9e-68	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180871

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	C	8: 43,568,696	T586A	probably benign	Het
Agtr1b	T	C	3: 20,315,795	T216A	probably benign	Het
Ankdd1a	T	C	9: 65,501,470	R505G	probably benign	Het
Anxa3	A	T	5: 96,828,692		probably benign	Het
Atp6v1c2	C	T	12: 17,289,121	V210I	probably benign	Het
BC034090	G	A	1: 155,225,655	P288S	possibly damaging	Het
Catsper2	T	C	2: 121,406,819	H200R	probably benign	Het
Cntnap5c	G	T	17: 58,102,176	A470S	probably benign	Het
Fcho2	G	A	13: 98,777,384		probably benign	Het
Frem1	A	C	4: 83,013,969	L165R	probably damaging	Het
Gm5155	A	T	7: 17,918,649		noncoding transcript	Het
Gpn1	G	A	5: 31,510,831		probably null	Het
Gpr179	T	C	11: 97,351,475	N181S	probably benign	Het
Heatr5b	A	T	17: 78,763,080		probably benign	Het
Kat6a	A	G	8: 22,910,222	N333S	possibly damaging	Het
Lrp5	T	C	19: 3,630,159	T442A	probably benign	Het
Myo15	G	T	11: 60,496,518	L722F	probably damaging	Het
Nlrp9c	T	G	7: 26,365,032	D957A	probably damaging	Het
Nupl1	T	A	14: 60,221,616	T521S	probably benign	Het
Olfr58	T	G	9: 19,783,268	I45S	probably damaging	Het
Plek	C	A	11: 16,995,319	V4L	possibly damaging	Het
Sell	T	A	1: 164,065,342	H42Q	possibly damaging	Het
Slfn8	A	T	11: 83,003,707	I702K	probably damaging	Het
Svep1	T	C	4: 58,133,387	I573V	probably benign	Het
Tgm1	T	A	14: 55,705,907	I526F	probably damaging	Het
Tox	T	C	4: 6,697,597	N402S	possibly damaging	Het
Trav7d-4	C	A	14: 52,770,098		probably benign	Het
Unc13d	A	T	11: 116,067,844	V784D	probably benign	Het
Vmn2r68	A	G	7: 85,233,755	V263A	possibly damaging	Het
Zfp385c	A	T	11: 100,634,747	V56D	probably damaging	Het
Znrf2	A	T	6: 54,884,769	I222L	possibly damaging	Het

Other mutations in Tmem30c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Tmem30c	APN	16	57270074	missense	probably damaging	1.00
IGL01115:Tmem30c	APN	16	57276117	splice site	probably benign
IGL01574:Tmem30c	APN	16	57276742	missense	possibly damaging	0.60
IGL02060:Tmem30c	APN	16	57290898	missense	probably benign
R0689:Tmem30c	UTSW	16	57270173	missense	probably damaging	1.00
R0699:Tmem30c	UTSW	16	57276789	missense	possibly damaging	0.69
R0763:Tmem30c	UTSW	16	57270176	missense	possibly damaging	0.90
R1353:Tmem30c	UTSW	16	57277665	missense	probably damaging	1.00
R1518:Tmem30c	UTSW	16	57266492	missense	probably damaging	0.99
R1707:Tmem30c	UTSW	16	57266480	missense	possibly damaging	0.79
R1843:Tmem30c	UTSW	16	57276780	missense	probably benign	0.02
R1865:Tmem30c	UTSW	16	57269989	splice site	probably benign
R2021:Tmem30c	UTSW	16	57281362	missense	probably damaging	1.00
R3419:Tmem30c	UTSW	16	57277668	missense	probably benign	0.25
R5007:Tmem30c	UTSW	16	57266505	missense	probably benign	0.00
R5204:Tmem30c	UTSW	16	57270022	missense	possibly damaging	0.89
R5626:Tmem30c	UTSW	16	57276143	missense	possibly damaging	0.74
R5863:Tmem30c	UTSW	16	57270055	missense	probably benign	0.02
R5869:Tmem30c	UTSW	16	57266562	missense	probably damaging	0.99
R6133:Tmem30c	UTSW	16	57277737	missense	probably damaging	1.00
R6359:Tmem30c	UTSW	16	57276150	missense	probably benign	0.00
R6813:Tmem30c	UTSW	16	57281259	critical splice donor site	probably null
R7268:Tmem30c	UTSW	16	57266414	missense	probably damaging	0.98
R7387:Tmem30c	UTSW	16	57270023	missense	probably benign	0.05

Posted On

2016-08-02