Mutagenetix > Incidental Mutation

Incidental Mutation 'R5775:Tmem132b'

448722

Institutional Source

Beutler Lab

Gene Symbol

Tmem132b

Ensembl Gene

ENSMUSG00000070498

Gene Name

transmembrane protein 132B

Synonyms

MMRRC Submission

043374-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R5775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125531774-125792583 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 125638330 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000031446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031446] [ENSMUST00000031446]

AlphaFold

F7BAB2

Predicted Effect

probably null
Transcript: ENSMUST00000031446

SMART Domains

Protein: ENSMUSP00000031446
Gene: ENSMUSG00000070498

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:TMEM132D_N	44	173	2.9e-53	PFAM
Pfam:TMEM132	432	774	5.9e-145	PFAM
Pfam:TMEM132D_C	870	953	1.3e-36	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000031446

SMART Domains

Protein: ENSMUSP00000031446
Gene: ENSMUSG00000070498

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:TMEM132D_N	44	173	2.9e-53	PFAM
Pfam:TMEM132	432	774	5.9e-145	PFAM
Pfam:TMEM132D_C	870	953	1.3e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184422

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (59/61)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	A	G	12: 113,546,266	D753G	possibly damaging	Het
AF067061	T	A	13: 120,263,939	C46*	probably null	Het
Arpc2	T	A	1: 74,255,949		probably null	Het
Atxn2	C	T	5: 121,813,449	T619M	probably damaging	Het
Cacna1s	T	C	1: 136,108,122	Y1120H	probably damaging	Het
Calm5	T	C	13: 3,854,435	L20S	probably damaging	Het
Carmil1	T	C	13: 24,276,537	I20V	probably benign	Het
Cd177	T	C	7: 24,752,268	E441G	probably damaging	Het
Cd63	T	A	10: 128,910,430	C9S	probably damaging	Het
Cep250	A	C	2: 155,969,374	D380A	possibly damaging	Het
Col5a3	G	T	9: 20,801,072	P509Q	unknown	Het
Cyp11b2	A	G	15: 74,853,478	V264A	probably benign	Het
Dennd6a	T	A	14: 26,619,373	L214*	probably null	Het
Dna2	A	G	10: 62,949,242	N46S	possibly damaging	Het
Elovl1	G	A	4: 118,430,897	V77I	probably benign	Het
Eml1	A	T	12: 108,506,554	Y207F	probably damaging	Het
Epha6	C	T	16: 59,818,994	R839Q	possibly damaging	Het
Erlec1	A	T	11: 30,943,848	S105T	probably benign	Het
Esp3	T	A	17: 40,633,577	S37T	possibly damaging	Het
Foxh1	G	A	15: 76,669,849	A8V	probably benign	Het
Fut1	A	C	7: 45,619,462	D280A	probably damaging	Het
Gm13998	G	T	2: 119,878,411		noncoding transcript	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
H2afz	T	C	3: 137,865,619	Y61H	probably damaging	Het
Kcns1	T	C	2: 164,164,766	I426V	probably damaging	Het
Kdm4c	T	G	4: 74,359,431	V774G	probably damaging	Het
Mrc2	G	A	11: 105,337,813	V673I	probably benign	Het
Mtnr1b	G	A	9: 15,862,872	A297V	possibly damaging	Het
Olfr1173	A	T	2: 88,274,701	M116K	probably damaging	Het
Olfr889	A	T	9: 38,116,127	E110D	probably damaging	Het
Osbpl5	A	T	7: 143,704,529	V346D	probably benign	Het
Pdzrn4	A	T	15: 92,757,681	E485V	probably damaging	Het
Pgpep1	G	A	8: 70,652,451	T53M	probably damaging	Het
Pigo	T	C	4: 43,023,475	D233G	probably damaging	Het
Pmm1	A	T	15: 81,951,955	I152N	probably benign	Het
Pot1a	A	T	6: 25,757,298		probably null	Het
Ppp1r12b	G	T	1: 134,876,042	L460I	probably benign	Het
Prrc2a	T	C	17: 35,158,487	D565G	unknown	Het
Psd	C	A	19: 46,314,772	E724*	probably null	Het
Rasa2	C	T	9: 96,577,468		probably null	Het
Rsbn1	A	T	3: 103,962,572	Q783L	possibly damaging	Het
Ryr2	T	C	13: 11,769,962	Y1035C	probably damaging	Het
Sec24d	C	T	3: 123,290,460	A96V	probably benign	Het
Sec61a2	A	T	2: 5,882,774		probably null	Het
Sec62	A	G	3: 30,793,287		probably benign	Het
Tnip3	A	G	6: 65,614,757	S247G	probably benign	Het
Traf3	A	G	12: 111,252,728	K263R	possibly damaging	Het
Tubgcp3	A	T	8: 12,625,056	I713N	probably damaging	Het
Unc5c	A	G	3: 141,828,520	E860G	probably damaging	Het
Usp44	A	G	10: 93,845,978	S97G	possibly damaging	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Vps37a	A	G	8: 40,529,119	H109R	probably damaging	Het
Wfikkn2	G	T	11: 94,238,288	D342E	probably benign	Het
Zfp354b	A	T	11: 50,922,820	F426Y	probably benign	Het
Zfp462	C	A	4: 55,010,590	T852N	probably damaging	Het
Zfp987	T	G	4: 146,124,935	S312R	probably benign	Het

Other mutations in Tmem132b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Tmem132b	APN	5	125698728	missense	probably benign
IGL01518:Tmem132b	APN	5	125778791	missense	probably damaging	1.00
IGL02542:Tmem132b	APN	5	125622494	missense	probably damaging	1.00
IGL02652:Tmem132b	APN	5	125787575	missense	probably damaging	1.00
IGL02671:Tmem132b	APN	5	125778727	missense	probably damaging	0.97
IGL02951:Tmem132b	APN	5	125787547	missense	probably damaging	0.99
R0456:Tmem132b	UTSW	5	125787724	missense	probably damaging	0.99
R0462:Tmem132b	UTSW	5	125785926	missense	probably damaging	1.00
R0724:Tmem132b	UTSW	5	125783421	missense	possibly damaging	0.95
R1137:Tmem132b	UTSW	5	125783542	missense	possibly damaging	0.94
R1168:Tmem132b	UTSW	5	125787019	missense	probably damaging	0.99
R1418:Tmem132b	UTSW	5	125638249	missense	probably benign	0.01
R1689:Tmem132b	UTSW	5	125787614	missense	possibly damaging	0.95
R1744:Tmem132b	UTSW	5	125778844	critical splice donor site	probably null
R1835:Tmem132b	UTSW	5	125785899	missense	probably damaging	1.00
R2016:Tmem132b	UTSW	5	125623016	missense	probably benign
R2033:Tmem132b	UTSW	5	125749289	missense	probably damaging	0.98
R2097:Tmem132b	UTSW	5	125638208	missense	probably damaging	0.99
R2114:Tmem132b	UTSW	5	125622551	missense	probably damaging	1.00
R2116:Tmem132b	UTSW	5	125622551	missense	probably damaging	1.00
R2117:Tmem132b	UTSW	5	125622551	missense	probably damaging	1.00
R2870:Tmem132b	UTSW	5	125638268	missense	probably benign
R2870:Tmem132b	UTSW	5	125638268	missense	probably benign
R3807:Tmem132b	UTSW	5	125787580	missense	probably damaging	1.00
R4825:Tmem132b	UTSW	5	125783433	missense	probably benign
R5149:Tmem132b	UTSW	5	125622925	missense	probably damaging	0.99
R5484:Tmem132b	UTSW	5	125787733	missense	probably damaging	1.00
R5623:Tmem132b	UTSW	5	125623352	missense	probably damaging	0.99
R5624:Tmem132b	UTSW	5	125622646	missense	probably benign	0.04
R7012:Tmem132b	UTSW	5	125698590	missense	probably damaging	1.00
R7142:Tmem132b	UTSW	5	125622673	missense	probably damaging	1.00
R7308:Tmem132b	UTSW	5	125787646	missense	possibly damaging	0.88
R7414:Tmem132b	UTSW	5	125787491	missense	probably damaging	1.00
R7452:Tmem132b	UTSW	5	125638268	missense	probably benign
R7650:Tmem132b	UTSW	5	125787010	missense	probably benign	0.04
R8111:Tmem132b	UTSW	5	125622793	missense	probably benign	0.00
R8326:Tmem132b	UTSW	5	125787554	missense	probably damaging	1.00
R8525:Tmem132b	UTSW	5	125638316	missense	probably benign	0.01
R8900:Tmem132b	UTSW	5	125778820	missense	probably damaging	0.96
R9147:Tmem132b	UTSW	5	125787103	missense	probably damaging	1.00
R9148:Tmem132b	UTSW	5	125787103	missense	probably damaging	1.00
R9179:Tmem132b	UTSW	5	125623051	missense	probably benign	0.02
R9215:Tmem132b	UTSW	5	125787116	missense	probably damaging	0.99
R9231:Tmem132b	UTSW	5	125783467	missense	probably damaging	1.00
R9284:Tmem132b	UTSW	5	125787647	missense	possibly damaging	0.67
R9311:Tmem132b	UTSW	5	125785965	missense	possibly damaging	0.56
R9436:Tmem132b	UTSW	5	125698569	missense	possibly damaging	0.53
R9484:Tmem132b	UTSW	5	125783356	missense	probably damaging	0.98
R9775:Tmem132b	UTSW	5	125787502	missense	probably benign	0.07
Z1176:Tmem132b	UTSW	5	125787886	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GTGAAGCCTATTTTCTCATGAGTC -3'
(R):5'- AGTTCTTCATCGAAACAACAGC -3'

Sequencing Primer
(F):5'- GCCTATTTTCTCATGAGTCTACTTTC -3'
(R):5'- ATGGTTGTCAGACTCTAAACTGTG -3'

Posted On

2016-12-15