Mutagenetix > Incidental Mutation

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

Essential gene?

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

Stock #

R5168 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14179335-14226804 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 14197139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000076722 (fasta)

Gene Model

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

AlphaFold

A2ARJ3

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 (GRCm39)	N478D	probably benign	Het
Acsl1	T	A	8: 46,966,303 (GRCm39)		probably benign	Het
Aox1	T	A	1: 58,088,561 (GRCm39)	C116S	probably damaging	Het
Bag6	T	C	17: 35,363,671 (GRCm39)	L785P	probably damaging	Het
Calcr	T	C	6: 3,708,610 (GRCm39)	N192S	probably benign	Het
Cntrl	T	A	2: 35,047,667 (GRCm39)	L1414H	probably damaging	Het
Cntrob	T	A	11: 69,190,816 (GRCm39)	I849F	possibly damaging	Het
Col6a3	C	T	1: 90,701,361 (GRCm39)	W2518*	probably null	Het
Cxcl15	T	A	5: 90,943,142 (GRCm39)	I48K	probably damaging	Het
Dab2	T	C	15: 6,365,924 (GRCm39)		probably benign	Het
Ddx54	A	G	5: 120,755,097 (GRCm39)	E82G	probably benign	Het
Dock1	T	C	7: 134,720,637 (GRCm39)	W1249R	probably damaging	Het
Fras1	A	C	5: 96,856,616 (GRCm39)	M2000L	probably benign	Het
Gpr31b	A	T	17: 13,270,326 (GRCm39)	I281N	probably damaging	Het
Gvin3	T	C	7: 106,196,054 (GRCm39)		noncoding transcript	Het
Haus5	T	C	7: 30,357,136 (GRCm39)	T432A	possibly damaging	Het
Hecw2	A	G	1: 53,952,459 (GRCm39)	S925P	probably damaging	Het
Katnal1	A	G	5: 148,858,132 (GRCm39)	M26T	possibly damaging	Het
Mccc1	C	T	3: 36,044,929 (GRCm39)	W71*	probably null	Het
Muc6	G	A	7: 141,223,981 (GRCm39)		probably benign	Het
Nrbp1	T	A	5: 31,407,481 (GRCm39)	V397D	probably damaging	Het
Nt5dc1	T	A	10: 34,273,236 (GRCm39)	E187D	probably benign	Het
Or1e19	T	A	11: 73,316,669 (GRCm39)	I47F	probably benign	Het
Or51f23	C	T	7: 102,453,528 (GRCm39)	A281V	probably benign	Het
Polr1c	G	T	17: 46,558,635 (GRCm39)		probably benign	Het
Pramel27	T	C	4: 143,579,768 (GRCm39)	V451A	probably benign	Het
Ralgapa1	A	G	12: 55,804,817 (GRCm39)	V493A	probably benign	Het
Ryr2	T	C	13: 11,767,207 (GRCm39)	T1228A	probably benign	Het
Slc26a3	G	A	12: 31,518,553 (GRCm39)	V674I	possibly damaging	Het
Spata31f1a	C	T	4: 42,851,488 (GRCm39)	V223I	probably damaging	Het
Srp68	C	A	11: 116,156,300 (GRCm39)	E147D	probably damaging	Het
Tacr3	T	C	3: 134,535,320 (GRCm39)	I96T	probably damaging	Het
Tmem62	T	A	2: 120,824,088 (GRCm39)	N254K	probably benign	Het
Tmem79	A	T	3: 88,240,651 (GRCm39)	L99Q	probably damaging	Het
Trav6-5	A	T	14: 53,728,973 (GRCm39)	N78Y	probably benign	Het
Trim33	C	T	3: 103,248,997 (GRCm39)	Q807*	probably null	Het
Ugt1a10	A	G	1: 87,983,531 (GRCm39)	T110A	probably benign	Het
Vcl	C	T	14: 21,060,170 (GRCm39)	T603I	probably damaging	Het
Vps8	A	T	16: 21,276,195 (GRCm39)	T243S	probably damaging	Het
Vps8	A	C	16: 21,351,849 (GRCm39)	I323L	probably benign	Het
Zfp746	G	C	6: 48,041,329 (GRCm39)	Q465E	possibly damaging	Het

Other mutations in Tmem236

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Tmem236	APN	2	14,224,189 (GRCm39)	missense	probably damaging	1.00
IGL01363:Tmem236	APN	2	14,179,441 (GRCm39)	missense	probably damaging	1.00
IGL01980:Tmem236	APN	2	14,223,716 (GRCm39)	missense	probably benign	0.16
IGL02749:Tmem236	APN	2	14,224,132 (GRCm39)	missense	probably damaging	1.00
R0172:Tmem236	UTSW	2	14,223,694 (GRCm39)	missense	probably benign	0.06
R1470:Tmem236	UTSW	2	14,223,732 (GRCm39)	missense	probably benign	0.22
R1470:Tmem236	UTSW	2	14,223,732 (GRCm39)	missense	probably benign	0.22
R1519:Tmem236	UTSW	2	14,197,091 (GRCm39)	missense	probably benign	0.00
R1923:Tmem236	UTSW	2	14,224,117 (GRCm39)	missense	probably damaging	1.00
R2147:Tmem236	UTSW	2	14,223,861 (GRCm39)	missense	probably benign	0.03
R4226:Tmem236	UTSW	2	14,179,437 (GRCm39)	nonsense	probably null
R4551:Tmem236	UTSW	2	14,223,964 (GRCm39)	missense	probably benign	0.02
R4904:Tmem236	UTSW	2	14,200,803 (GRCm39)	missense	probably benign
R5283:Tmem236	UTSW	2	14,179,644 (GRCm39)	missense	probably benign	0.01
R5306:Tmem236	UTSW	2	14,223,975 (GRCm39)	nonsense	probably null
R5334:Tmem236	UTSW	2	14,223,871 (GRCm39)	missense	possibly damaging	0.85
R6516:Tmem236	UTSW	2	14,200,791 (GRCm39)	missense	probably benign	0.00
R6604:Tmem236	UTSW	2	14,179,512 (GRCm39)	missense	probably benign	0.03
R7689:Tmem236	UTSW	2	14,197,076 (GRCm39)	missense	probably damaging	0.99
R8390:Tmem236	UTSW	2	14,224,168 (GRCm39)	missense	probably damaging	1.00
R9157:Tmem236	UTSW	2	14,223,889 (GRCm39)	missense	probably benign	0.00
R9630:Tmem236	UTSW	2	14,223,815 (GRCm39)	missense	probably benign
X0062:Tmem236	UTSW	2	14,224,089 (GRCm39)	missense	probably damaging	1.00
Z1177:Tmem236	UTSW	2	14,179,538 (GRCm39)	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