Mutagenetix > Incidental Mutation

Incidental Mutation 'R9629:Tmem30c'

725392

Institutional Source

Beutler Lab

Gene Symbol

Tmem30c

Ensembl Gene

ENSMUSG00000022753

Gene Name

transmembrane protein 30C

Synonyms

4933401B01Rik, 4933409A18Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

57086502-57113228 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 57096585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 179 (I179L)

Ref Sequence

ENSEMBL: ENSMUSP00000112989 (fasta)

Gene Model

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

AlphaFold

Q9D4D7

Predicted Effect

probably benign
Transcript: ENSMUST00000023434
AA Change: I179L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000023434
Gene: ENSMUSG00000022753
AA Change: I179L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119407
AA Change: I179L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000112989
Gene: ENSMUSG00000022753
AA Change: I179L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000120112
AA Change: I179L

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000113896
Gene: ENSMUSG00000022753
AA Change: I179L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	C	14: 35,532,134 (GRCm39)	E147G	probably damaging	Het
Agrn	G	A	4: 156,257,094 (GRCm39)	Q1217*	probably null	Het
Ankrd13c	G	C	3: 157,653,313 (GRCm39)	K50N	probably benign	Het
Anks3	C	T	16: 4,775,565 (GRCm39)	S144N	probably damaging	Het
Apob	A	T	12: 8,059,054 (GRCm39)	D2512V	probably damaging	Het
Arhgap45	A	G	10: 79,863,694 (GRCm39)	K815E	probably damaging	Het
Atr	T	A	9: 95,747,098 (GRCm39)	C127S	probably benign	Het
B4galnt4	A	G	7: 140,648,575 (GRCm39)	D697G	probably damaging	Het
C2cd3	C	T	7: 100,029,249 (GRCm39)	L134F	probably damaging	Het
Celsr2	C	T	3: 108,308,915 (GRCm39)	G1697D	probably damaging	Het
Cep170	A	G	1: 176,583,821 (GRCm39)	S88P	possibly damaging	Het
Cnot1	A	G	8: 96,455,874 (GRCm39)	V1961A	probably damaging	Het
Cntnap4	A	G	8: 113,568,349 (GRCm39)	N795S	probably damaging	Het
Cog2	T	A	8: 125,260,125 (GRCm39)	V256D	possibly damaging	Het
Col14a1	A	G	15: 55,382,545 (GRCm39)	Y515C		Het
Cox7a1	A	G	7: 29,884,583 (GRCm39)	Q30R	probably damaging	Het
Cs	T	C	10: 128,196,885 (GRCm39)	S427P	probably damaging	Het
Dbr1	T	A	9: 99,464,523 (GRCm39)	C101S		Het
Dhcr7	C	A	7: 143,401,212 (GRCm39)	Y461*	probably null	Het
Dis3l2	T	A	1: 86,974,784 (GRCm39)	M691K	probably benign	Het
Dnah17	T	C	11: 117,979,804 (GRCm39)	D1751G	probably damaging	Het
Dock10	A	T	1: 80,481,389 (GRCm39)	I536K		Het
Dok6	G	T	18: 89,491,988 (GRCm39)	F196L	possibly damaging	Het
Epx	C	T	11: 87,755,651 (GRCm39)	D678N	probably damaging	Het
Fcrlb	G	C	1: 170,739,735 (GRCm39)	P56A	probably benign	Het
Flrt3	T	C	2: 140,502,816 (GRCm39)	R271G	possibly damaging	Het
Galnt15	T	A	14: 31,774,301 (GRCm39)	L479Q	probably damaging	Het
Gfy	G	A	7: 44,827,785 (GRCm39)	L104F	probably benign	Het
Gltp	C	T	5: 114,814,382 (GRCm39)	M80I	probably benign	Het
Gm21560	G	A	14: 6,218,250 (GRCm38)	T76I	probably benign	Het
Gm5150	A	G	3: 16,044,829 (GRCm39)	I132T	probably benign	Het
Hdac9	T	C	12: 34,439,389 (GRCm39)	H437R	probably damaging	Het
Hpgd	C	A	8: 56,751,419 (GRCm39)	F82L		Het
Ifi207	GAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGACTATTGGATGGTGTTGATAGAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGAT	GAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGACTATTGGATGGTGTTGATAGAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGAT	1: 173,556,561 (GRCm39)		probably benign	Het
Ilrun	A	T	17: 28,012,913 (GRCm39)	F95I	probably damaging	Het
Itgb5	C	T	16: 33,696,295 (GRCm39)	T162I	probably damaging	Het
Jakmip3	G	A	7: 138,625,118 (GRCm39)		probably null	Het
Kctd1	A	T	18: 15,196,611 (GRCm39)	M4K	unknown	Het
Kirrel1	C	A	3: 87,003,025 (GRCm39)	E123*	probably null	Het
Krt87	G	C	15: 101,389,048 (GRCm39)	P95A	probably benign	Het
Man1a	A	T	10: 53,796,158 (GRCm39)	H511Q	probably damaging	Het
Megf8	A	G	7: 25,043,194 (GRCm39)	D1372G	possibly damaging	Het
Mrgprd	A	G	7: 144,875,189 (GRCm39)	D20G	probably benign	Het
Mrpl54	C	T	10: 81,101,528 (GRCm39)	G78S	probably damaging	Het
Myl1	T	A	1: 66,969,448 (GRCm39)	E61D	probably benign	Het
Myo7a	G	T	7: 97,712,937 (GRCm39)	H1679Q	probably benign	Het
Naca	A	G	10: 127,878,226 (GRCm39)	E1086G	unknown	Het
Nagpa	C	G	16: 5,017,829 (GRCm39)	D258H	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nr2f6	G	A	8: 71,827,171 (GRCm39)	L377F	probably damaging	Het
Ntsr1	G	A	2: 180,183,274 (GRCm39)	R328H	probably damaging	Het
Nup93	G	A	8: 95,033,267 (GRCm39)	S592N	probably damaging	Het
Or10a2	A	T	7: 106,673,164 (GRCm39)	N43I	probably damaging	Het
Or4k40	T	A	2: 111,251,137 (GRCm39)	H53L	probably benign	Het
Or8g36	T	C	9: 39,422,497 (GRCm39)	D173G	probably benign	Het
Pard3	T	C	8: 128,136,153 (GRCm39)	V842A	possibly damaging	Het
Phospho2	T	A	2: 69,626,295 (GRCm39)	N150K	probably damaging	Het
Piwil1	T	C	5: 128,831,051 (GRCm39)	S791P	probably damaging	Het
Pkhd1	A	G	1: 20,462,437 (GRCm39)	V2039A	possibly damaging	Het
Ppp1r3c	A	G	19: 36,711,404 (GRCm39)	I122T	probably benign	Het
Prrc2c	A	G	1: 162,519,959 (GRCm39)	Y2131H	possibly damaging	Het
Qtrt2	T	C	16: 43,683,540 (GRCm39)	M311V	possibly damaging	Het
Rbbp4	T	C	4: 129,212,243 (GRCm39)	D346G	probably damaging	Het
Slc13a5	A	G	11: 72,138,578 (GRCm39)	I455T	probably damaging	Het
Slc28a3	A	T	13: 58,717,187 (GRCm39)	Y366*	probably null	Het
Srgap1	T	A	10: 121,705,746 (GRCm39)	Q226L	probably benign	Het
Syt17	A	G	7: 118,007,379 (GRCm39)	V362A	probably damaging	Het
Tas2r117	T	C	6: 132,780,374 (GRCm39)	S171P	probably benign	Het
Tfap2b	A	T	1: 19,289,468 (GRCm39)	I198F	probably damaging	Het
Tg	A	T	15: 66,555,587 (GRCm39)	I760F	possibly damaging	Het
Tmem123	T	C	9: 7,790,984 (GRCm39)	V95A	possibly damaging	Het
Tmem198b	C	A	10: 128,638,386 (GRCm39)	G59V	probably damaging	Het
Tmprss2	A	T	16: 97,369,702 (GRCm39)	D357E	probably benign	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Trex1	A	T	9: 108,887,632 (GRCm39)	C120S	probably damaging	Het
Ttc8	A	G	12: 98,886,965 (GRCm39)	S13G	possibly damaging	Het
Ttll7	T	C	3: 146,621,487 (GRCm39)	I362T	probably damaging	Het
Usp34	A	T	11: 23,314,364 (GRCm39)	T769S		Het
Vmn1r185	G	T	7: 26,311,439 (GRCm39)	T22K	probably damaging	Het
Vmn1r39	T	G	6: 66,781,578 (GRCm39)	M247L	probably benign	Het
Vmn2r96	A	G	17: 18,803,257 (GRCm39)	D389G	probably benign	Het
Xirp1	C	T	9: 119,846,379 (GRCm39)	V835I	probably benign	Het
Ylpm1	T	G	12: 85,044,036 (GRCm39)	I258S	unknown	Het
Zfp971	A	T	2: 177,675,417 (GRCm39)	S339C	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
R8236:Tmem30c	UTSW	16	57,096,542 (GRCm39)	missense	probably null	1.00
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
R9682:Tmem30c	UTSW	16	57,111,180 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CAATGGTGGTGCCCAAGATG -3'
(R):5'- TCAGCATGTATGGCCTGTAG -3'

Sequencing Primer
(F):5'- CTGGTCTACACAGTGAGTTCAGGAC -3'
(R):5'- GGCGTGTTGAGTGTCTAGATAAAAAC -3'

Posted On

2022-09-12