Mutagenetix > Incidental Mutations

Incidental Mutation 'R6256:Tmem232'

506146

Institutional Source

Beutler Lab

Gene Symbol

Tmem232

Ensembl Gene

ENSMUSG00000045036

Gene Name

transmembrane protein 232

Synonyms

LOC381107, E130009J12Rik

MMRRC Submission

044373-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R6256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65256005-65540782 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 65478402 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 188 (Q188K)

Ref Sequence

ENSEMBL: ENSMUSP00000083927 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062161
AA Change: Q188K

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000055652
Gene: ENSMUSG00000045036
AA Change: Q188K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086722
AA Change: Q188K

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000083927
Gene: ENSMUSG00000045036
AA Change: Q188K

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,451,428	Q361L	probably damaging	Het
Abca7	A	G	10: 80,002,622	T577A	probably damaging	Het
Acad12	A	T	5: 121,614,086	V54E	probably benign	Het
Ago4	A	G	4: 126,520,226	Y91H	probably damaging	Het
Akr1b10	T	C	6: 34,387,688	V28A	probably damaging	Het
Ccdc33	T	A	9: 58,101,918		probably null	Het
Ccdc7a	T	C	8: 128,935,593		probably null	Het
Ces1f	A	T	8: 93,265,794	V343E	probably damaging	Het
Cftr	T	C	6: 18,274,661	L896P	probably damaging	Het
Csmd3	G	A	15: 47,669,729	P2375S	probably damaging	Het
Dnajb14	G	C	3: 137,908,362	A345P	probably damaging	Het
Dnajb14	C	T	3: 137,908,363	A345V	probably damaging	Het
Dnase1	G	A	16: 4,037,621	R24K	probably benign	Het
Dnmbp	C	T	19: 43,852,281	V560M	probably damaging	Het
Dopey2	T	A	16: 93,807,214	I1981N	possibly damaging	Het
Eif3a	A	C	19: 60,771,026	S770A	possibly damaging	Het
Fbxl7	A	T	15: 26,553,002	C60S	probably benign	Het
Fras1	A	T	5: 96,733,843	D2478V	possibly damaging	Het
Hrnr	A	G	3: 93,322,611	D52G	probably damaging	Het
Jmjd1c	T	A	10: 67,220,408	L823M	probably damaging	Het
Kdm1a	G	T	4: 136,568,600	C172*	probably null	Het
Kdm6b	C	T	11: 69,406,729	E295K	probably damaging	Het
Mepe	A	T	5: 104,337,074	M27L	probably benign	Het
Mogat2	A	T	7: 99,219,895	H305Q	probably damaging	Het
Mst1r	T	A	9: 107,917,266	Y1215N	probably damaging	Het
Muc5ac	A	T	7: 141,789,795	H48L	possibly damaging	Het
Myo7b	T	C	18: 31,983,695	D953G	probably damaging	Het
Ocel1	T	C	8: 71,371,828		probably benign	Het
Pcdhb6	A	G	18: 37,335,925	D633G	probably damaging	Het
Ppm1l	A	G	3: 69,497,897	I176V	probably benign	Het
Sall3	C	T	18: 80,969,861	R1120H	possibly damaging	Het
Sbf1	G	A	15: 89,300,867	P1018S	probably benign	Het
Setbp1	T	C	18: 78,857,257	Y1065C	probably damaging	Het
Slc25a2	T	C	18: 37,637,723		probably null	Het
Slc4a2	C	A	5: 24,435,890	T729K	probably damaging	Het
Sptlc2	T	C	12: 87,355,531	E207G	probably damaging	Het
Sult6b1	A	T	17: 78,906,914	F27I	probably benign	Het
Syf2	A	T	4: 134,934,578	K84N	probably damaging	Het
Tmem209	A	T	6: 30,497,167	N183K	probably benign	Het
Tomm70a	A	T	16: 57,152,692	T598S	probably benign	Het
Ttll13	A	G	7: 80,258,304	T556A	probably benign	Het
Vmn2r120	A	T	17: 57,524,700	L363*	probably null	Het
Xpo6	G	T	7: 126,108,619	Q872K	probably damaging	Het
Xrra1	A	C	7: 99,914,464	S553R	probably damaging	Het
Zfy1	A	T	Y: 738,765	V147E	unknown	Homo
Zfy2	T	C	Y: 2,116,267	I258V	probably benign	Homo

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
R0524:Tmem232	UTSW	17	65485942	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- CACTGAAGAGACACTGCCTG -3'
(R):5'- AGCACTTCAGTCTTGACATAACCG -3'

Sequencing Primer
(F):5'- AGACACTGCCTGGCCCAG -3'
(R):5'- TGAGCATTTACTGGTGCG -3'

Posted On

2018-02-28