Mutagenetix > Incidental Mutations

Incidental Mutation 'R4155:Tmem232'

315113

Institutional Source

Beutler Lab

Gene Symbol

Tmem232

Ensembl Gene

ENSMUSG00000045036

Gene Name

transmembrane protein 232

Synonyms

LOC381107, E130009J12Rik

MMRRC Submission

040999-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R4155 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65256005-65540782 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65436333 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 321 (M321K)

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: M321K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055652
Gene: ENSMUSG00000045036
AA Change: M321K

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: M321K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000083927
Gene: ENSMUSG00000045036
AA Change: M321K

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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	T	A	3: 145,938,263	F69I	possibly damaging	Het
Akt3	A	G	1: 177,096,977	I184T	possibly damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Armc2	A	G	10: 42,011,867	V40A	probably damaging	Het
Ash2l	A	G	8: 25,817,454	Y485H	probably damaging	Het
Atr	T	A	9: 95,888,124	C1202*	probably null	Het
Bcl11b	A	T	12: 107,917,425		probably null	Het
Birc6	C	A	17: 74,596,939	S1242R	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,512,904		probably benign	Het
Bsx	A	G	9: 40,876,336	E102G	probably benign	Het
Casq2	A	T	3: 102,133,102		probably null	Het
Ccpg1	C	A	9: 73,012,167	Q355K	probably benign	Het
Copa	T	G	1: 172,101,425	N251K	probably damaging	Het
Cst8	C	A	2: 148,800,076	A31E	possibly damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Ecd	A	G	14: 20,324,564	S503P	probably damaging	Het
Fam155a	T	A	8: 9,233,023	Y342F	possibly damaging	Het
Fbn2	C	A	18: 58,023,287	E2487*	probably null	Het
Hoxd9	A	G	2: 74,699,323	I308V	probably benign	Het
Ica1l	G	A	1: 60,013,893	A162V	possibly damaging	Het
Kcnj15	A	T	16: 95,296,307	K263*	probably null	Het
Mettl4	T	C	17: 94,740,575	M213V	probably benign	Het
Ncan	C	A	8: 70,110,077	E510D	possibly damaging	Het
Ndufs4	A	T	13: 114,307,854	S129R	probably benign	Het
Olfr1262	A	G	2: 90,002,660	S85G	probably benign	Het
Olfr305	T	A	7: 86,364,062	I92L	probably benign	Het
Olfr601	T	C	7: 103,359,156	T13A	probably benign	Het
Olfr933	A	T	9: 38,976,155	T160S	probably damaging	Het
P2rx5	A	G	11: 73,171,829	T455A	probably damaging	Het
Pcdh1	T	A	18: 38,203,106	T159S	probably damaging	Het
Poln	A	G	5: 34,009,649	V755A	possibly damaging	Het
Pou4f1	C	T	14: 104,467,717	S6N	possibly damaging	Het
Rpap1	C	T	2: 119,774,179	R416H	probably damaging	Het
Samd4	T	A	14: 47,052,946	M170K	possibly damaging	Het
Srgn	A	G	10: 62,497,834	F55L	possibly damaging	Het
Tmcc1	C	T	6: 116,133,804	G176D	probably benign	Het
Tnfsf11	A	G	14: 78,299,869	M118T	probably benign	Het
Tns1	T	A	1: 73,914,631	N1848Y	probably damaging	Het
Ttc27	T	G	17: 74,840,460	I669S	probably benign	Het
Uaca	A	G	9: 60,871,753	S1141G	probably benign	Het
Usp34	T	A	11: 23,417,676	V1671E	probably damaging	Het
Wdr64	T	A	1: 175,769,606	L73H	probably benign	Het
Zfp410	G	A	12: 84,327,432	R181H	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GACATTGTGGTAAACGAGCATTC -3'
(R):5'- TGGTGCTTATGACTCCAGCC -3'

Sequencing Primer
(F):5'- ATTATTACCGATTTATACACACCAGG -3'
(R):5'- ATGACTCCAGCCTAGTATTGC -3'

Posted On

2015-05-14