Mutagenetix > Incidental Mutation

Incidental Mutation 'R0613:Tmem132e'

54901

Institutional Source

Beutler Lab

Gene Symbol

Tmem132e

Ensembl Gene

ENSMUSG00000020701

Gene Name

transmembrane protein 132E

Synonyms

LOC270893

MMRRC Submission

038802-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.517) question?

Stock #

R0613 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82279726-82337158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82329164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 481 (V481D)

Ref Sequence

ENSEMBL: ENSMUSP00000052484 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054245] [ENSMUST00000092852]

AlphaFold

Q6IEE6

Predicted Effect

probably damaging
Transcript: ENSMUST00000054245
AA Change: V481D

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

SMART Domains

Protein: ENSMUSP00000052484
Gene: ENSMUSG00000020701
AA Change: V481D

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:TMEM132D_N	45	176	1.1e-52	PFAM
low complexity region	202	216	N/A	INTRINSIC
low complexity region	241	262	N/A	INTRINSIC
low complexity region	318	328	N/A	INTRINSIC
Pfam:TMEM132	451	797	1.7e-136	PFAM
low complexity region	827	837	N/A	INTRINSIC
low complexity region	841	854	N/A	INTRINSIC
Pfam:TMEM132D_C	867	944	2e-34	PFAM
low complexity region	967	998	N/A	INTRINSIC
low complexity region	1016	1027	N/A	INTRINSIC
low complexity region	1036	1043	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092852
AA Change: V389D

PolyPhen 2 Score 0.726 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000090528
Gene: ENSMUSG00000020701
AA Change: V389D

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	226	236	N/A	INTRINSIC
low complexity region	471	489	N/A	INTRINSIC
low complexity region	735	745	N/A	INTRINSIC
low complexity region	749	762	N/A	INTRINSIC
transmembrane domain	798	820	N/A	INTRINSIC
low complexity region	875	906	N/A	INTRINSIC
low complexity region	924	935	N/A	INTRINSIC
low complexity region	944	951	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202598

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.3%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acd	A	T	8: 106,427,200 (GRCm39)		probably null	Het
Adcy9	A	G	16: 4,237,403 (GRCm39)	S3P	probably damaging	Het
Adgrl4	T	C	3: 151,248,859 (GRCm39)		probably benign	Het
Aff3	T	C	1: 38,249,004 (GRCm39)	E700G	probably benign	Het
Ahctf1	A	G	1: 179,596,979 (GRCm39)	S56P	probably damaging	Het
Atp12a	T	A	14: 56,611,978 (GRCm39)	I384N	probably damaging	Het
Brca1	A	T	11: 101,399,036 (GRCm39)	S1519T	probably benign	Het
Ccl25	T	C	8: 4,399,850 (GRCm39)	V94A	probably benign	Het
Cep170	T	C	1: 176,602,246 (GRCm39)	T287A	probably benign	Het
Ces1a	A	G	8: 93,752,209 (GRCm39)	S383P	probably benign	Het
Cntnap3	A	T	13: 64,906,228 (GRCm39)	F793I	probably damaging	Het
Ctsm	T	C	13: 61,687,496 (GRCm39)	R89G	probably damaging	Het
Cyp2j12	T	G	4: 95,990,316 (GRCm39)	T417P	probably damaging	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Edn2	T	A	4: 120,019,061 (GRCm39)		probably null	Het
Emc1	T	A	4: 139,102,383 (GRCm39)		probably benign	Het
Entrep1	T	A	19: 23,963,853 (GRCm39)	N239Y	probably damaging	Het
Fras1	T	C	5: 96,848,347 (GRCm39)		probably benign	Het
Fsip2	A	T	2: 82,824,139 (GRCm39)	D6624V	probably damaging	Het
Gpr107	A	G	2: 31,068,297 (GRCm39)	Y253C	probably damaging	Het
Gpr108	A	G	17: 57,545,174 (GRCm39)		probably benign	Het
Grik1	A	G	16: 87,848,221 (GRCm39)		probably null	Het
Gtf3c1	G	A	7: 125,243,306 (GRCm39)	P1766L	possibly damaging	Het
Gucy2c	A	T	6: 136,737,721 (GRCm39)	N293K	probably damaging	Het
Hps6	C	A	19: 45,992,260 (GRCm39)	P66T	probably benign	Het
Hspa9	A	T	18: 35,081,033 (GRCm39)	V216E	probably damaging	Het
Igsf8	T	A	1: 172,145,156 (GRCm39)	M224K	probably benign	Het
Igsf9b	T	C	9: 27,238,216 (GRCm39)	V569A	probably damaging	Het
Itgb4	A	T	11: 115,884,168 (GRCm39)	I952F	probably damaging	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Khdrbs2	A	G	1: 32,696,603 (GRCm39)	H344R	possibly damaging	Het
Kmo	C	A	1: 175,465,458 (GRCm39)	R71S	probably damaging	Het
Lrrc31	A	G	3: 30,739,184 (GRCm39)		probably benign	Het
Map1b	T	A	13: 99,578,149 (GRCm39)	D168V	probably damaging	Het
Mfsd6	T	C	1: 52,697,855 (GRCm39)		probably benign	Het
Mgst1	G	A	6: 138,133,243 (GRCm39)	G186D	probably damaging	Het
Mrc1	C	T	2: 14,299,630 (GRCm39)	A740V	probably damaging	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Mtor	T	C	4: 148,610,503 (GRCm39)	Y1605H	possibly damaging	Het
Ncoa4	T	A	14: 31,898,509 (GRCm39)	L443Q	probably damaging	Het
Nelfa	G	A	5: 34,060,807 (GRCm39)		probably benign	Het
Nepn	T	A	10: 52,277,353 (GRCm39)	L363Q	probably damaging	Het
Nfat5	A	G	8: 108,092,927 (GRCm39)	T630A	possibly damaging	Het
Nipal4	A	T	11: 46,041,211 (GRCm39)	V328E	probably benign	Het
Or11h4b	T	A	14: 50,918,861 (GRCm39)	I77F	probably benign	Het
Or2y1e	T	A	11: 49,218,575 (GRCm39)	S112R	possibly damaging	Het
Or4c122	A	T	2: 89,079,469 (GRCm39)	C178S	probably damaging	Het
Or4d2b	A	T	11: 87,780,053 (GRCm39)	V223E	possibly damaging	Het
Or6c76	T	A	10: 129,612,131 (GRCm39)	M116K	probably damaging	Het
Or8d2	T	A	9: 38,759,909 (GRCm39)	C166*	probably null	Het
Otogl	A	T	10: 107,652,931 (GRCm39)	N1140K	probably damaging	Het
Ppip5k2	A	C	1: 97,680,465 (GRCm39)	Y236*	probably null	Het
Prelid1	C	T	13: 55,472,156 (GRCm39)	R111*	probably null	Het
Prpf8	T	C	11: 75,394,270 (GRCm39)	L1771P	probably damaging	Het
Ptprb	A	T	10: 116,138,230 (GRCm39)	Y378F	possibly damaging	Het
Ptprb	A	G	10: 116,138,283 (GRCm39)	T396A	possibly damaging	Het
Rab3il1	T	C	19: 10,005,728 (GRCm39)	L174P	probably damaging	Het
Rab4a	T	C	8: 124,550,574 (GRCm39)	V18A	possibly damaging	Het
Scn3a	T	A	2: 65,302,628 (GRCm39)	M1273L	possibly damaging	Het
Sdhc	A	T	1: 170,957,413 (GRCm39)	V156E	probably benign	Het
Slco3a1	T	C	7: 73,996,382 (GRCm39)		probably benign	Het
Syne3	T	C	12: 104,924,371 (GRCm39)	T343A	probably benign	Het
Syt11	A	G	3: 88,669,776 (GRCm39)	C39R	probably damaging	Het
Tll2	G	T	19: 41,093,429 (GRCm39)	D462E	probably damaging	Het
Tmem161b	C	T	13: 84,399,439 (GRCm39)	L17F	probably damaging	Het
Vmn2r105	T	A	17: 20,428,578 (GRCm39)	I833F	probably damaging	Het
Vstm2a	A	T	11: 16,213,140 (GRCm39)	N175I	probably damaging	Het
Xpnpep1	G	T	19: 52,994,784 (GRCm39)	D238E	probably damaging	Het
Zfp112	G	A	7: 23,826,453 (GRCm39)	G807D	probably benign	Het
Zfp518b	A	T	5: 38,830,946 (GRCm39)	V353E	probably damaging	Het
Zfp69	T	C	4: 120,791,544 (GRCm39)	E39G	probably benign	Het
Zfp865	A	G	7: 5,032,090 (GRCm39)	H25R	possibly damaging	Het

Other mutations in Tmem132e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Tmem132e	APN	11	82,329,200 (GRCm39)	missense	probably damaging	1.00
IGL01586:Tmem132e	APN	11	82,325,495 (GRCm39)	missense	probably damaging	1.00
IGL01729:Tmem132e	APN	11	82,325,942 (GRCm39)	missense	possibly damaging	0.89
IGL02592:Tmem132e	APN	11	82,325,462 (GRCm39)	missense	probably damaging	1.00
R0029:Tmem132e	UTSW	11	82,335,587 (GRCm39)	missense	probably damaging	1.00
R0501:Tmem132e	UTSW	11	82,325,894 (GRCm39)	missense	possibly damaging	0.90
R0612:Tmem132e	UTSW	11	82,334,198 (GRCm39)	missense	probably damaging	1.00
R1311:Tmem132e	UTSW	11	82,335,122 (GRCm39)	missense	probably damaging	1.00
R1430:Tmem132e	UTSW	11	82,329,122 (GRCm39)	missense	probably damaging	1.00
R1607:Tmem132e	UTSW	11	82,328,196 (GRCm39)	missense	probably benign	0.39
R1710:Tmem132e	UTSW	11	82,334,343 (GRCm39)	missense	probably damaging	1.00
R1913:Tmem132e	UTSW	11	82,334,243 (GRCm39)	missense	probably damaging	1.00
R1951:Tmem132e	UTSW	11	82,335,908 (GRCm39)	missense	possibly damaging	0.84
R2018:Tmem132e	UTSW	11	82,335,989 (GRCm39)	missense	probably benign	0.26
R2051:Tmem132e	UTSW	11	82,331,264 (GRCm39)	missense	probably damaging	1.00
R2076:Tmem132e	UTSW	11	82,325,894 (GRCm39)	missense	possibly damaging	0.90
R2100:Tmem132e	UTSW	11	82,335,357 (GRCm39)	missense	probably damaging	1.00
R2325:Tmem132e	UTSW	11	82,325,341 (GRCm39)	missense	probably damaging	1.00
R2924:Tmem132e	UTSW	11	82,335,149 (GRCm39)	missense	probably damaging	1.00
R3436:Tmem132e	UTSW	11	82,335,156 (GRCm39)	missense	probably damaging	1.00
R3437:Tmem132e	UTSW	11	82,335,156 (GRCm39)	missense	probably damaging	1.00
R4594:Tmem132e	UTSW	11	82,325,894 (GRCm39)	missense	possibly damaging	0.83
R4704:Tmem132e	UTSW	11	82,334,357 (GRCm39)	missense	probably damaging	0.97
R4754:Tmem132e	UTSW	11	82,335,677 (GRCm39)	nonsense	probably null
R4764:Tmem132e	UTSW	11	82,325,338 (GRCm39)	missense	probably damaging	0.99
R5245:Tmem132e	UTSW	11	82,333,464 (GRCm39)	missense	probably damaging	0.96
R5720:Tmem132e	UTSW	11	82,333,276 (GRCm39)	splice site	probably null
R5793:Tmem132e	UTSW	11	82,335,684 (GRCm39)	missense	probably damaging	1.00
R5984:Tmem132e	UTSW	11	82,335,923 (GRCm39)	missense	probably damaging	1.00
R6980:Tmem132e	UTSW	11	82,329,212 (GRCm39)	critical splice donor site	probably null
R7052:Tmem132e	UTSW	11	82,328,189 (GRCm39)	missense	probably damaging	0.99
R7637:Tmem132e	UTSW	11	82,325,342 (GRCm39)	missense	probably damaging	1.00
R7918:Tmem132e	UTSW	11	82,336,116 (GRCm39)	missense	probably damaging	1.00
R8262:Tmem132e	UTSW	11	82,325,666 (GRCm39)	missense	probably benign	0.33
R8772:Tmem132e	UTSW	11	82,325,137 (GRCm39)	missense	probably damaging	0.99
R9248:Tmem132e	UTSW	11	82,335,308 (GRCm39)	missense	probably damaging	1.00
Z1177:Tmem132e	UTSW	11	82,335,930 (GRCm39)	missense	probably damaging	0.97
Z1177:Tmem132e	UTSW	11	82,326,004 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAATCTGTGCCGATCATCTGAGGAG -3'
(R):5'- GGAATGTCCACATCTGTGGGACTG -3'

Sequencing Primer
(F):5'- TATCTGAGCCAATGGTAGAAGCC -3'
(R):5'- GGACTGAGTTGTTTCTGACAC -3'

Posted On

2013-07-11