Mutagenetix > Incidental Mutations

Incidental Mutation 'R0763:Tmem30c'

72530

Institutional Source

Beutler Lab

Gene Symbol

Tmem30c

Ensembl Gene

ENSMUSG00000022753

Gene Name

transmembrane protein 30C

Synonyms

4933409A18Rik, 4933401B01Rik

MMRRC Submission

038943-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

57266139-57292865 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 57270176 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 223 (I223F)

Ref Sequence

ENSEMBL: ENSMUSP00000113896 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023434
AA Change: I223F

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023434
Gene: ENSMUSG00000022753
AA Change: I223F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119407
AA Change: I223F

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112989
Gene: ENSMUSG00000022753
AA Change: I223F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120112
AA Change: I223F

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113896
Gene: ENSMUSG00000022753
AA Change: I223F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231600

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 93.8%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	C	6: 88,838,279	F290V	probably damaging	Het
Adam26b	G	A	8: 43,520,564	S467L	probably damaging	Het
Adgrv1	T	A	13: 81,499,125	I3099F	probably damaging	Het
Akap6	A	G	12: 53,142,214	D2137G	possibly damaging	Het
Arhgdig	T	C	17: 26,200,301	Y48C	probably damaging	Het
Astn1	A	G	1: 158,509,890	I389V	possibly damaging	Het
Atp8a1	T	C	5: 67,659,883	D920G	probably benign	Het
BC016579	T	A	16: 45,629,455	N200I	probably damaging	Het
Casc3	T	C	11: 98,831,318	Y661H	probably damaging	Het
Cep120	A	C	18: 53,721,737	V442G	probably benign	Het
Cfap65	A	G	1: 74,904,682	Y1557H	probably damaging	Het
Chd2	G	T	7: 73,447,274	Q1485K	possibly damaging	Het
Cntrl	T	C	2: 35,171,066	F1967L	probably benign	Het
Csmd1	G	A	8: 17,027,284	T119M	possibly damaging	Het
Dnah9	T	C	11: 66,155,530	H64R	probably benign	Het
Ep400	T	C	5: 110,665,837	R2899G	probably damaging	Het
Fam205a1	A	G	4: 42,851,238	V306A	probably damaging	Het
Foxl2	A	C	9: 98,956,033	T125P	probably damaging	Het
Foxred1	A	T	9: 35,207,473		probably null	Het
H2-Eb1	T	A	17: 34,314,159		probably benign	Het
Heatr3	T	C	8: 88,158,241	S378P	probably damaging	Het
Hectd4	T	C	5: 121,307,033		probably benign	Het
Hps3	T	G	3: 20,003,279	R780S	probably damaging	Het
Ifi44	G	A	3: 151,749,498	A30V	probably damaging	Het
Il12rb1	G	A	8: 70,813,290		probably benign	Het
Invs	G	A	4: 48,392,628	G281R	possibly damaging	Het
Itgax	C	A	7: 128,147,940		probably benign	Het
Jade1	G	T	3: 41,613,783	C762F	possibly damaging	Het
Lama1	C	T	17: 67,772,818	P1229S	probably damaging	Het
Mmp15	C	A	8: 95,368,228	D243E	probably benign	Het
Mug2	A	G	6: 122,075,294	T1004A	probably benign	Het
Myh14	A	T	7: 44,665,367	V44E	probably damaging	Het
N4bp2l1	C	A	5: 150,594,404	R11S	possibly damaging	Het
Notch4	T	A	17: 34,565,332	C36*	probably null	Het
Nwd1	A	G	8: 72,671,044	D637G	probably damaging	Het
Ogfod1	T	C	8: 94,055,636	I238T	probably benign	Het
Palm2	G	A	4: 57,688,441	E95K	probably damaging	Het
Papln	A	G	12: 83,791,865	D1256G	possibly damaging	Het
Ppp1r26	T	C	2: 28,450,367	L3P	probably damaging	Het
Rbm10	C	T	X: 20,637,664		probably benign	Het
Slc17a5	A	T	9: 78,553,090		probably benign	Het
Slc25a17	A	G	15: 81,323,706		probably benign	Het
Socs4	T	C	14: 47,290,655	F349S	probably damaging	Het
Tchhl1	A	C	3: 93,471,571	E527D	probably benign	Het
Tm7sf3	A	G	6: 146,606,289	L425S	possibly damaging	Het
Tmem266	G	T	9: 55,414,955	V112L	probably damaging	Het
Tomm70a	G	A	16: 57,122,172	G104D	probably benign	Het
Ttc17	G	T	2: 94,332,803	A834E	probably benign	Het
Ttn	C	T	2: 76,731,190	V20664M	probably damaging	Het
Zbed5	T	C	5: 129,902,179	V323A	probably benign	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
IGL03243:Tmem30c	APN	16	57276150	missense	probably benign	0.00
R0689:Tmem30c	UTSW	16	57270173	missense	probably damaging	1.00
R0699:Tmem30c	UTSW	16	57276789	missense	possibly damaging	0.69
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

Predicted Primers

PCR Primer
(F):5'- TTACCAGCAGGTAAGCCTTCAGCG -3'
(R):5'- TCTACTAGGGCCTGTGATTCCAGTG -3'

Sequencing Primer
(F):5'- CCTTCAGCGAAGGCGTG -3'
(R):5'- ttccttccttcctccctcc -3'

Posted On

2013-09-30