Mutagenetix > Incidental Mutation

Incidental Mutation 'R8236:Tmem30c'

637379

Institutional Source

Beutler Lab

Gene Symbol

Tmem30c

Ensembl Gene

ENSMUSG00000022753

Gene Name

transmembrane protein 30C

Synonyms

4933401B01Rik, 4933409A18Rik

MMRRC Submission

067668-MU

Accession Numbers

Essential gene?

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

Stock #

R8236 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57086502-57113228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 57096542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 193 (D193G)

Ref Sequence

ENSEMBL: ENSMUSP00000023434 (fasta)

Gene Model

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

AlphaFold

Q9D4D7

Predicted Effect

probably null
Transcript: ENSMUST00000023434
AA Change: D193G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023434
Gene: ENSMUSG00000022753
AA Change: D193G

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

Predicted Effect

probably null
Transcript: ENSMUST00000119407
AA Change: D193G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112989
Gene: ENSMUSG00000022753
AA Change: D193G

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

Predicted Effect

probably null
Transcript: ENSMUST00000120112
AA Change: D193G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113896
Gene: ENSMUSG00000022753
AA Change: D193G

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.8%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	C	T	1: 85,974,115 (GRCm39)	A144V	possibly damaging	Het
Actr8	A	G	14: 29,704,585 (GRCm39)	I51M	probably damaging	Het
Afm	A	T	5: 90,671,747 (GRCm39)	D143V	probably damaging	Het
Ankfy1	T	A	11: 72,645,181 (GRCm39)	S753R	possibly damaging	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
Bicdl1	T	C	5: 115,787,618 (GRCm39)	H527R	probably benign	Het
Birc6	G	C	17: 74,918,126 (GRCm39)	L1845F	probably damaging	Het
Brip1	C	A	11: 86,029,938 (GRCm39)	D569Y	probably damaging	Het
Cab39	T	C	1: 85,776,092 (GRCm39)	L263P	probably damaging	Het
Cblb	C	A	16: 51,986,392 (GRCm39)	P545Q	possibly damaging	Het
Cdk5rap2	G	T	4: 70,160,722 (GRCm39)	P1579Q	probably benign	Het
Cdt1	A	G	8: 123,298,767 (GRCm39)	E468G	probably damaging	Het
Col28a1	A	G	6: 8,097,024 (GRCm39)		probably null	Het
Coro2a	A	G	4: 46,548,796 (GRCm39)	I166T	possibly damaging	Het
Ctnnd2	G	A	15: 30,647,164 (GRCm39)	A287T	probably benign	Het
Dcc	C	T	18: 72,088,089 (GRCm39)	V50I	probably benign	Het
Defb30	A	T	14: 63,287,216 (GRCm39)	M19K	unknown	Het
Dync2h1	C	A	9: 7,080,363 (GRCm39)		probably benign	Het
Edc4	A	G	8: 106,618,905 (GRCm39)	T1291A	possibly damaging	Het
Epyc	A	T	10: 97,517,067 (GRCm39)	N302Y	probably damaging	Het
Espn	G	A	4: 152,233,487 (GRCm39)	T106I	probably damaging	Het
Fam135a	T	C	1: 24,059,729 (GRCm39)		probably null	Het
Fam171b	G	A	2: 83,710,550 (GRCm39)	E741K	probably damaging	Het
Fgfr1	G	T	8: 26,052,288 (GRCm39)	E205*	probably null	Het
Flt3	A	G	5: 147,293,670 (GRCm39)	S469P	probably benign	Het
Gdpd3	A	G	7: 126,367,838 (GRCm39)	K224E	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm43518	C	T	5: 124,072,285 (GRCm39)	Q17*	probably null	Het
Gm4353	T	C	7: 115,682,618 (GRCm39)	Y321C	probably damaging	Het
Gphn	A	G	12: 78,711,311 (GRCm39)	H631R	probably damaging	Het
Hook1	T	A	4: 95,903,042 (GRCm39)		probably null	Het
Il9	T	A	13: 56,630,058 (GRCm39)		probably benign	Het
Itpr2	A	G	6: 146,292,281 (GRCm39)		probably null	Het
Lhcgr	A	T	17: 89,050,014 (GRCm39)	L504*	probably null	Het
Mical3	A	G	6: 120,989,504 (GRCm39)	V272A		Het
Mup10	A	G	4: 60,537,562 (GRCm39)	I63T	probably damaging	Het
Mxi1	C	G	19: 53,358,029 (GRCm39)	P165R	probably damaging	Het
Nanog	A	T	6: 122,690,131 (GRCm39)	I179F	probably benign	Het
Or5w14	T	A	2: 87,542,104 (GRCm39)	I49F	possibly damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pip	A	G	6: 41,824,596 (GRCm39)	D28G	probably damaging	Het
Ppp2r3d	T	C	9: 124,440,067 (GRCm38)	H53R		Het
Psmd6	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	GCAGAGCGGGCAGGGCATCTCACTGACCCTGTCACCTACCCAGAGCGGGCAGGGCATCTCACTGACC	14: 14,119,882 (GRCm38)		probably null	Het
Ptpn4	A	G	1: 119,606,552 (GRCm39)	V781A	possibly damaging	Het
Ptprt	C	T	2: 161,528,988 (GRCm39)		probably null	Het
Rtf1	T	C	2: 119,531,695 (GRCm39)	S141P	probably damaging	Het
Slc2a1	G	C	4: 118,990,454 (GRCm39)	S226T	probably benign	Het
Smyd3	A	C	1: 179,233,205 (GRCm39)		probably null	Het
Sos1	T	C	17: 80,715,712 (GRCm39)	E1015G	probably benign	Het
Sult1b1	G	T	5: 87,669,383 (GRCm39)	T155N	probably damaging	Het
Tcam1	A	G	11: 106,177,243 (GRCm39)	I412V	probably benign	Het
Tet2	G	A	3: 133,193,547 (GRCm39)	P296S	probably benign	Het
Trem2	G	T	17: 48,658,934 (GRCm39)	W233L	probably benign	Het
Trpm3	C	A	19: 22,964,772 (GRCm39)	D1422E	probably benign	Het
Ttbk1	T	G	17: 46,781,655 (GRCm39)	D366A	probably damaging	Het
Ttyh1	G	A	7: 4,128,547 (GRCm39)	G148D	probably benign	Het
Ubr2	T	C	17: 47,262,835 (GRCm39)	M1259V	probably benign	Het
Zfp608	T	A	18: 55,032,281 (GRCm39)	D553V	probably damaging	Het
Zkscan2	A	G	7: 123,079,135 (GRCm39)	S941P	probably benign	Het
Zranb1	T	C	7: 132,551,393 (GRCm39)	Y15H	probably damaging	Het

Other mutations in Tmem30c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00514:Tmem30c	APN	16	57,090,437 (GRCm39)	missense	probably damaging	1.00
IGL01115:Tmem30c	APN	16	57,096,480 (GRCm39)	splice site	probably benign
IGL01574:Tmem30c	APN	16	57,097,105 (GRCm39)	missense	possibly damaging	0.60
IGL02060:Tmem30c	APN	16	57,111,261 (GRCm39)	missense	probably benign
IGL03243:Tmem30c	APN	16	57,096,513 (GRCm39)	missense	probably benign	0.00
R0689:Tmem30c	UTSW	16	57,090,536 (GRCm39)	missense	probably damaging	1.00
R0699:Tmem30c	UTSW	16	57,097,152 (GRCm39)	missense	possibly damaging	0.69
R0763:Tmem30c	UTSW	16	57,090,539 (GRCm39)	missense	possibly damaging	0.90
R1353:Tmem30c	UTSW	16	57,098,028 (GRCm39)	missense	probably damaging	1.00
R1518:Tmem30c	UTSW	16	57,086,855 (GRCm39)	missense	probably damaging	0.99
R1707:Tmem30c	UTSW	16	57,086,843 (GRCm39)	missense	possibly damaging	0.79
R1843:Tmem30c	UTSW	16	57,097,143 (GRCm39)	missense	probably benign	0.02
R1865:Tmem30c	UTSW	16	57,090,352 (GRCm39)	splice site	probably benign
R2021:Tmem30c	UTSW	16	57,101,725 (GRCm39)	missense	probably damaging	1.00
R3419:Tmem30c	UTSW	16	57,098,031 (GRCm39)	missense	probably benign	0.25
R5007:Tmem30c	UTSW	16	57,086,868 (GRCm39)	missense	probably benign	0.00
R5204:Tmem30c	UTSW	16	57,090,385 (GRCm39)	missense	possibly damaging	0.89
R5626:Tmem30c	UTSW	16	57,096,506 (GRCm39)	missense	possibly damaging	0.74
R5863:Tmem30c	UTSW	16	57,090,418 (GRCm39)	missense	probably benign	0.02
R5869:Tmem30c	UTSW	16	57,086,925 (GRCm39)	missense	probably damaging	0.99
R6133:Tmem30c	UTSW	16	57,098,100 (GRCm39)	missense	probably damaging	1.00
R6359:Tmem30c	UTSW	16	57,096,513 (GRCm39)	missense	probably benign	0.00
R6813:Tmem30c	UTSW	16	57,101,622 (GRCm39)	critical splice donor site	probably null
R7268:Tmem30c	UTSW	16	57,086,777 (GRCm39)	missense	probably damaging	0.98
R7387:Tmem30c	UTSW	16	57,090,386 (GRCm39)	missense	probably benign	0.05
R8693:Tmem30c	UTSW	16	57,086,855 (GRCm39)	missense	probably damaging	1.00
R8794:Tmem30c	UTSW	16	57,090,553 (GRCm39)	missense	probably benign	0.00
R9140:Tmem30c	UTSW	16	57,090,482 (GRCm39)	missense	probably damaging	0.99
R9629:Tmem30c	UTSW	16	57,096,585 (GRCm39)	missense	probably benign	0.03
R9682:Tmem30c	UTSW	16	57,111,180 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AATGGTGGTGCCCAAGATG -3'
(R):5'- CAGCATGTATGGCCTGTAGG -3'

Sequencing Primer
(F):5'- AACTGGGTAGCCTGGTCTACAC -3'
(R):5'- GCGTGTTGAGTGTCTAGATAAAAAC -3'

Posted On

2020-07-13