Mutagenetix > Incidental Mutations

Incidental Mutation 'R5168:Tmem236'

397377

Institutional Source

Beutler Lab

Gene Symbol

Tmem236

Ensembl Gene

ENSMUSG00000061531

Gene Name

transmembrane protein 236

Synonyms

Fam23a, 2010003H20Rik

MMRRC Submission

042748-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5168 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14174523-14221993 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 14192328 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000076722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077517]

Predicted Effect

probably null
Transcript: ENSMUST00000077517

SMART Domains

Protein: ENSMUSP00000076722
Gene: ENSMUSG00000061531

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	45	67	N/A	INTRINSIC
transmembrane domain	82	104	N/A	INTRINSIC
low complexity region	119	143	N/A	INTRINSIC
transmembrane domain	256	275	N/A	INTRINSIC
transmembrane domain	295	314	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120155

Meta Mutation Damage Score

0.9492

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.5%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,086,070	N478D	probably benign	Het
Acsl1	T	A	8: 46,513,266		probably benign	Het
Aox1	T	A	1: 58,049,402	C116S	probably damaging	Het
Bag6	T	C	17: 35,144,695	L785P	probably damaging	Het
Calcr	T	C	6: 3,708,610	N192S	probably benign	Het
Cntrl	T	A	2: 35,157,655	L1414H	probably damaging	Het
Cntrob	T	A	11: 69,299,990	I849F	possibly damaging	Het
Col6a3	C	T	1: 90,773,639	W2518*	probably null	Het
Cxcl15	T	A	5: 90,795,283	I48K	probably damaging	Het
Dab2	T	C	15: 6,336,443		probably benign	Het
Ddx54	A	G	5: 120,617,032	E82G	probably benign	Het
Dock1	T	C	7: 135,118,908	W1249R	probably damaging	Het
Fam205a1	C	T	4: 42,851,488	V223I	probably damaging	Het
Fras1	A	C	5: 96,708,757	M2000L	probably benign	Het
Gm13103	T	C	4: 143,853,198	V451A	probably benign	Het
Gm1966	T	C	7: 106,596,847		noncoding transcript	Het
Gpr31b	A	T	17: 13,051,439	I281N	probably damaging	Het
Haus5	T	C	7: 30,657,711	T432A	possibly damaging	Het
Hecw2	A	G	1: 53,913,300	S925P	probably damaging	Het
Katnal1	A	G	5: 148,921,322	M26T	possibly damaging	Het
Mccc1	C	T	3: 35,990,780	W71*	probably null	Het
Muc6	G	A	7: 141,639,559		probably benign	Het
Nrbp1	T	A	5: 31,250,137	V397D	probably damaging	Het
Nt5dc1	T	A	10: 34,397,240	E187D	probably benign	Het
Olfr378	T	A	11: 73,425,843	I47F	probably benign	Het
Olfr564	C	T	7: 102,804,321	A281V	probably benign	Het
Polr1c	G	T	17: 46,247,709		probably benign	Het
Ralgapa1	A	G	12: 55,758,032	V493A	probably benign	Het
Ryr2	T	C	13: 11,752,321	T1228A	probably benign	Het
Slc26a3	G	A	12: 31,468,554	V674I	possibly damaging	Het
Srp68	C	A	11: 116,265,474	E147D	probably damaging	Het
Tacr3	T	C	3: 134,829,559	I96T	probably damaging	Het
Tmem62	T	A	2: 120,993,607	N254K	probably benign	Het
Tmem79	A	T	3: 88,333,344	L99Q	probably damaging	Het
Trav6-5	A	T	14: 53,491,516	N78Y	probably benign	Het
Trim33	C	T	3: 103,341,681	Q807*	probably null	Het
Ugt1a10	A	G	1: 88,055,809	T110A	probably benign	Het
Vcl	C	T	14: 21,010,102	T603I	probably damaging	Het
Vps8	A	T	16: 21,457,445	T243S	probably damaging	Het
Vps8	A	C	16: 21,533,099	I323L	probably benign	Het
Zfp746	G	C	6: 48,064,395	Q465E	possibly damaging	Het

Other mutations in Tmem236

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Tmem236	APN	2	14219378	missense	probably damaging	1.00
IGL01363:Tmem236	APN	2	14174630	missense	probably damaging	1.00
IGL01980:Tmem236	APN	2	14218905	missense	probably benign	0.16
IGL02749:Tmem236	APN	2	14219321	missense	probably damaging	1.00
R0172:Tmem236	UTSW	2	14218883	missense	probably benign	0.06
R1470:Tmem236	UTSW	2	14218921	missense	probably benign	0.22
R1470:Tmem236	UTSW	2	14218921	missense	probably benign	0.22
R1519:Tmem236	UTSW	2	14192280	missense	probably benign	0.00
R1923:Tmem236	UTSW	2	14219306	missense	probably damaging	1.00
R2147:Tmem236	UTSW	2	14219050	missense	probably benign	0.03
R4226:Tmem236	UTSW	2	14174626	nonsense	probably null
R4551:Tmem236	UTSW	2	14219153	missense	probably benign	0.02
R4904:Tmem236	UTSW	2	14195992	missense	probably benign
R5283:Tmem236	UTSW	2	14174833	missense	probably benign	0.01
R5306:Tmem236	UTSW	2	14219164	nonsense	probably null
R5334:Tmem236	UTSW	2	14219060	missense	possibly damaging	0.85
R6516:Tmem236	UTSW	2	14195980	missense	probably benign	0.00
R6604:Tmem236	UTSW	2	14174701	missense	probably benign	0.03
R7689:Tmem236	UTSW	2	14192265	missense	probably damaging	0.99
X0062:Tmem236	UTSW	2	14219278	missense	probably damaging	1.00
Z1177:Tmem236	UTSW	2	14174727	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCATGCTCAAACATTTGG -3'
(R):5'- TGTGCAAACTATTTATCAGTGGGTG -3'

Sequencing Primer
(F):5'- GCAGTGAGCTTCTTAGAAAAAGC -3'
(R):5'- GTATCATATACACAAGCACAGAAGTG -3'

Posted On

2016-07-06