Mutagenetix > Incidental Mutation

Incidental Mutation 'R0524:Tmem232'

48810

Institutional Source

Beutler Lab

Gene Symbol

Tmem232

Ensembl Gene

ENSMUSG00000045036

Gene Name

transmembrane protein 232

Synonyms

LOC381107, E130009J12Rik

MMRRC Submission

038717-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R0524 (G1)

Quality Score

216

Status

Not validated

Chromosome

Chromosomal Location

65256005-65540782 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65485942 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 87 (S87P)

Ref Sequence

ENSEMBL: ENSMUSP00000083927 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062161] [ENSMUST00000086722]

AlphaFold

Q5K6N0

Predicted Effect

probably damaging
Transcript: ENSMUST00000062161
AA Change: S87P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055652
Gene: ENSMUSG00000045036
AA Change: S87P

Domain	Start	End	E-Value	Type
Pfam:TMEM232	40	488	5.3e-235	PFAM
coiled coil region	598	634	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000086722
AA Change: S87P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083927
Gene: ENSMUSG00000045036
AA Change: S87P

Domain	Start	End	E-Value	Type
low complexity region	61	67	N/A	INTRINSIC
coiled coil region	598	634	N/A	INTRINSIC

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.4%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd3	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	1: 180,747,059		probably benign	Het
Adamts16	T	C	13: 70,800,894	E216G	probably benign	Het
Aoc3	C	A	11: 101,337,511	P715T	probably damaging	Het
Bnipl	T	C	3: 95,249,829	D33G	probably benign	Het
Celsr2	T	C	3: 108,401,587	H1701R	probably damaging	Het
Clca3b	T	A	3: 144,825,321	H756L	probably benign	Het
Clca4a	A	G	3: 144,969,393	W159R	probably damaging	Het
Ddx49	A	T	8: 70,296,924	I252N	probably damaging	Het
Duox2	T	C	2: 122,281,836	T1290A	possibly damaging	Het
Fam111a	T	A	19: 12,588,048	I431K	probably damaging	Het
Fam135b	A	T	15: 71,462,284	D1020E	probably benign	Het
Flii	A	G	11: 60,720,061	V514A	probably damaging	Het
Frmpd1	G	A	4: 45,256,902	V157M	probably damaging	Het
Frmpd1	A	G	4: 45,283,774	D865G	probably benign	Het
Gm6970	T	A	19: 47,170,494	K214M	unknown	Het
Gsr	G	A	8: 33,669,180		probably null	Het
Hps3	A	T	3: 20,012,776	V542E	probably damaging	Het
Kcnj5	A	G	9: 32,322,974	I15T	probably benign	Het
Kif2b	T	C	11: 91,575,724	R578G	probably benign	Het
Lamb2	A	G	9: 108,484,372	R676G	possibly damaging	Het
Mrpl40	A	G	16: 18,873,552	F94S	possibly damaging	Het
Myo7b	C	T	18: 32,013,424	V103M	possibly damaging	Het
Nmt2	T	A	2: 3,305,437	W69R	probably benign	Het
Nsd3	C	A	8: 25,700,577	Q1130K	possibly damaging	Het
Olfml1	T	C	7: 107,590,177	S150P	probably damaging	Het
Olfr123	A	T	17: 37,795,605	K54*	probably null	Het
Olfr1471	A	G	19: 13,445,864	N284S	probably damaging	Het
Pask	A	T	1: 93,310,834	W1310R	probably damaging	Het
Pcdh18	T	C	3: 49,755,642	Q408R	probably damaging	Het
Pfkm	A	G	15: 98,131,607	I700V	probably benign	Het
Pias1	A	G	9: 62,952,178	V16A	probably damaging	Het
Pnpla8	C	T	12: 44,283,618	Q318*	probably null	Het
Ppp1cc	C	T	5: 122,172,770	R142*	probably null	Het
Pygl	T	A	12: 70,207,724	N149I	probably damaging	Het
Rapgef6	T	A	11: 54,690,284	S1285T	probably benign	Het
Rdh13	A	C	7: 4,444,297	C10W	probably damaging	Het
Rgr	A	T	14: 37,038,295	C273S	probably benign	Het
Ripk4	G	T	16: 97,755,287	Y22*	probably null	Het
Slc34a2	G	A	5: 53,064,873	W302*	probably null	Het
Smarce1	G	A	11: 99,214,062	T263M	probably damaging	Het
Sypl	C	T	12: 32,967,565	P94L	possibly damaging	Het
Tet3	A	G	6: 83,379,942	I878T	probably damaging	Het
Tmem260	A	G	14: 48,472,478	T163A	probably benign	Het
Ttn	T	C	2: 76,725,452	Y30403C	probably damaging	Het
Ubash3b	A	T	9: 41,016,608	M468K	probably benign	Het
Ulk4	A	G	9: 121,252,651		probably null	Het
Vmn1r72	A	G	7: 11,669,792	F243S	probably benign	Het
Wrap73	A	G	4: 154,145,307	Y45C	probably damaging	Het
Zfp704	T	C	3: 9,609,364	D119G	unknown	Het
Zfp719	A	G	7: 43,589,253		probably null	Het

Other mutations in Tmem232

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00897:Tmem232	APN	17	65256574	missense	possibly damaging	0.71
IGL00954:Tmem232	APN	17	65500153	missense	probably damaging	1.00
IGL01530:Tmem232	APN	17	65256548	nonsense	probably null
IGL02881:Tmem232	APN	17	65450370	missense	probably damaging	1.00
IGL02969:Tmem232	APN	17	65256563	missense	possibly damaging	0.69
IGL02972:Tmem232	APN	17	65476673	missense	probably benign	0.00
IGL03028:Tmem232	APN	17	65256389	missense	probably benign	0.14
IGL03293:Tmem232	APN	17	65450374	missense	probably damaging	1.00
R0380:Tmem232	UTSW	17	65256448	missense	probably benign	0.23
R0432:Tmem232	UTSW	17	65256503	missense	probably damaging	0.99
R0548:Tmem232	UTSW	17	65382620	missense	probably benign	0.22
R1345:Tmem232	UTSW	17	65450406	missense	possibly damaging	0.60
R1521:Tmem232	UTSW	17	65484501	missense	probably damaging	0.99
R1954:Tmem232	UTSW	17	65484487	missense	probably benign	0.01
R1955:Tmem232	UTSW	17	65484487	missense	probably benign	0.01
R2012:Tmem232	UTSW	17	65500172	missense	probably benign	0.21
R2294:Tmem232	UTSW	17	65450441	missense	probably benign	0.00
R2369:Tmem232	UTSW	17	65402997	missense	probably damaging	1.00
R2384:Tmem232	UTSW	17	65402857	missense	probably damaging	1.00
R2894:Tmem232	UTSW	17	65450413	missense	probably damaging	1.00
R3431:Tmem232	UTSW	17	65265302	splice site	probably null
R3788:Tmem232	UTSW	17	65382633	missense	possibly damaging	0.71
R3789:Tmem232	UTSW	17	65382525	missense	probably benign	0.02
R3789:Tmem232	UTSW	17	65382633	missense	possibly damaging	0.71
R4155:Tmem232	UTSW	17	65436333	missense	probably damaging	0.97
R4691:Tmem232	UTSW	17	65265242	missense	possibly damaging	0.88
R4838:Tmem232	UTSW	17	65430888	missense	probably benign	0.04
R5340:Tmem232	UTSW	17	65402998	missense	possibly damaging	0.92
R5619:Tmem232	UTSW	17	65486511	missense	probably benign	0.06
R6176:Tmem232	UTSW	17	65485872	missense	probably damaging	1.00
R6192:Tmem232	UTSW	17	65430805	missense	probably damaging	1.00
R6223:Tmem232	UTSW	17	65500196	start codon destroyed	probably null	0.99
R6256:Tmem232	UTSW	17	65478402	missense	possibly damaging	0.89
R6782:Tmem232	UTSW	17	65500124	missense	possibly damaging	0.88
R6856:Tmem232	UTSW	17	65450310	missense	possibly damaging	0.57
R7262:Tmem232	UTSW	17	65500117	missense	probably benign
R7459:Tmem232	UTSW	17	65256389	missense	probably benign	0.14
R7699:Tmem232	UTSW	17	65265218	missense	probably damaging	0.97
R7700:Tmem232	UTSW	17	65265218	missense	probably damaging	0.97
R8284:Tmem232	UTSW	17	65402995	missense	probably damaging	1.00
R8523:Tmem232	UTSW	17	65478371	missense	probably damaging	1.00
R8821:Tmem232	UTSW	17	65436372	missense	probably damaging	1.00
R9016:Tmem232	UTSW	17	65430783	missense	probably benign	0.30
R9420:Tmem232	UTSW	17	65485886	missense	probably damaging	1.00
R9617:Tmem232	UTSW	17	65500185	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTTGAAAGAAGCCATGTAAGTGAGAA -3'
(R):5'- GGGGATAGTCAGCTACCTTTAAGTGAGA -3'

Sequencing Primer
(F):5'- atctgcctgcctctgcc -3'
(R):5'- CTACCTTTAAGTGAGAGTAAGCAGC -3'

Posted On

2013-06-12