Mutagenetix > Incidental Mutation

Incidental Mutation 'R1923:Tmem236'

213200

Institutional Source

Beutler Lab

Gene Symbol

Tmem236

Ensembl Gene

ENSMUSG00000061531

Gene Name

transmembrane protein 236

Synonyms

Fam23a, 2010003H20Rik

MMRRC Submission

039941-MU

Accession Numbers

Essential gene?

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

Stock #

R1923 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14179335-14226804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14224117 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 302 (I302T)

Ref Sequence

ENSEMBL: ENSMUSP00000076722 (fasta)

Gene Model

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

AlphaFold

A2ARJ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000077517
AA Change: I302T

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

SMART Domains

Protein: ENSMUSP00000076722
Gene: ENSMUSG00000061531
AA Change: I302T

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

Meta Mutation Damage Score

0.1617

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 78,903,743 (GRCm39)	E163G	probably damaging	Het
4921513D11Rik	A	G	17: 79,935,562 (GRCm39)		probably benign	Het
Acox3	T	A	5: 35,749,459 (GRCm39)	F195I	possibly damaging	Het
Acsl6	T	C	11: 54,216,417 (GRCm39)	Y135H	probably damaging	Het
Ankhd1	C	A	18: 36,781,083 (GRCm39)	A2045E	probably benign	Het
Ap5z1	A	G	5: 142,458,096 (GRCm39)	H423R	probably benign	Het
Arsk	T	A	13: 76,214,985 (GRCm39)		probably benign	Het
Bpi	G	A	2: 158,103,083 (GRCm39)	G76D	probably damaging	Het
Carmil3	A	G	14: 55,739,861 (GRCm39)	T983A	probably damaging	Het
Ccdc192	A	T	18: 57,666,959 (GRCm39)	D12V	probably damaging	Het
Chmp2b	A	T	16: 65,342,213 (GRCm39)	M125K	possibly damaging	Het
Clca3a2	T	A	3: 144,511,491 (GRCm39)	I26L	probably damaging	Het
Cubn	T	C	2: 13,315,337 (GRCm39)	Y3032C	probably damaging	Het
Ehbp1	T	A	11: 22,101,850 (GRCm39)	D226V	probably damaging	Het
Enpp6	A	T	8: 47,535,541 (GRCm39)	D362V	probably damaging	Het
Fam53b	A	G	7: 132,317,521 (GRCm39)	S374P	probably damaging	Het
Fmn1	T	C	2: 113,260,066 (GRCm39)		probably benign	Het
Fndc7	C	T	3: 108,784,003 (GRCm39)	R202H	probably benign	Het
Frmd4b	T	G	6: 97,265,415 (GRCm39)	D951A	probably benign	Het
Git2	A	G	5: 114,877,162 (GRCm39)	Y107H	probably damaging	Het
Gm11595	A	T	11: 99,663,365 (GRCm39)	V105E	unknown	Het
Krt26	CTAGTA	CTA	11: 99,224,352 (GRCm39)		probably benign	Het
Lrriq4	C	A	3: 30,713,242 (GRCm39)	Q448K	probably benign	Het
Ly6g5c	A	G	17: 35,330,863 (GRCm39)	I128M	possibly damaging	Het
Mroh9	T	A	1: 162,903,860 (GRCm39)	S51C	probably damaging	Het
Myh3	A	G	11: 66,970,828 (GRCm39)	S2G	probably benign	Het
Nat8f4	A	G	6: 85,878,497 (GRCm39)	Y9H	probably damaging	Het
Negr1	T	C	3: 156,267,836 (GRCm39)	V2A	probably benign	Het
Or2y1	C	T	11: 49,386,131 (GRCm39)	T257I	probably damaging	Het
Or7g19	C	T	9: 18,856,781 (GRCm39)	T279I	probably benign	Het
Or8k32	T	G	2: 86,368,857 (GRCm39)	Y132S	probably damaging	Het
Otog	G	A	7: 45,895,707 (GRCm39)	C107Y	probably damaging	Het
Pdgfra	C	A	5: 75,324,394 (GRCm39)	T83K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Retreg1	A	G	15: 25,969,924 (GRCm39)	D109G	probably damaging	Het
Rgs12	T	A	5: 35,189,613 (GRCm39)	W674R	probably damaging	Het
Rgs18	T	C	1: 144,631,818 (GRCm39)	D98G	possibly damaging	Het
Rnf146	A	G	10: 29,223,715 (GRCm39)	F57S	probably damaging	Het
Skic3	T	A	13: 76,282,889 (GRCm39)	V737D	probably damaging	Het
Slc22a20	C	A	19: 6,021,464 (GRCm39)	V513L	probably benign	Het
Stox2	G	T	8: 47,646,661 (GRCm39)	F266L	probably damaging	Het
Tbx21	C	T	11: 96,990,863 (GRCm39)	V272M	probably damaging	Het
Tmc7	A	G	7: 118,144,850 (GRCm39)	F570S	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trpm3	T	C	19: 22,862,776 (GRCm39)	L506S	probably damaging	Het
Uggt1	T	C	1: 36,218,694 (GRCm39)	I78V	probably damaging	Het
Xpo4	A	T	14: 57,828,328 (GRCm39)	V844D	probably damaging	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably 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
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
R5168:Tmem236	UTSW	2	14,197,139 (GRCm39)	critical splice donor site	probably null
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'- CTCAAAGAGATGTTCGGGCG -3'
(R):5'- CACATGCATAATCAGGAGGACTTAG -3'

Sequencing Primer
(F):5'- AAGCTTCCTCATGTGGGC -3'
(R):5'- ATCAGGAGGACTTAGTATCTTGAC -3'

Posted On

2014-07-14