Mutagenetix > Incidental Mutation

Incidental Mutation 'R7637:Tmem132e'

590021

Institutional Source

Beutler Lab

Gene Symbol

Tmem132e

Ensembl Gene

ENSMUSG00000020701

Gene Name

transmembrane protein 132E

Synonyms

LOC270893

MMRRC Submission

045695-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.517) question?

Stock #

R7637 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82279726-82337158 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 82325342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 114 (L114Q)

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: L114Q

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

SMART Domains

Protein: ENSMUSP00000052484
Gene: ENSMUSG00000020701
AA Change: L114Q

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

probably damaging
Transcript: ENSMUST00000092852
AA Change: L114Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090528
Gene: ENSMUSG00000020701
AA Change: L114Q

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

Meta Mutation Damage Score

0.2248

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,109,778 (GRCm39)	Q651L	probably benign	Het
Adam8	C	T	7: 139,565,343 (GRCm39)	V624I	probably damaging	Het
Cltc	T	C	11: 86,621,158 (GRCm39)	H287R	probably damaging	Het
Cmya5	T	C	13: 93,219,720 (GRCm39)	K3243R	possibly damaging	Het
Dock5	G	A	14: 68,023,789 (GRCm39)	T1124M	possibly damaging	Het
Fam8a1	A	T	13: 46,824,723 (GRCm39)	M237L	probably benign	Het
Fars2	G	T	13: 36,388,758 (GRCm39)	K82N	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gm57858	T	A	3: 36,101,025 (GRCm39)	Q49L	probably damaging	Het
Gnat3	A	G	5: 18,208,770 (GRCm39)	D158G		Het
Grhl2	A	C	15: 37,328,574 (GRCm39)	N400T	probably damaging	Het
Grin2c	A	T	11: 115,147,085 (GRCm39)		probably null	Het
Hipk4	A	G	7: 27,222,973 (GRCm39)	Y11C	probably damaging	Het
Hspa9	G	T	18: 35,071,740 (GRCm39)	A620E	not run	Het
Igkv12-89	A	G	6: 68,812,083 (GRCm39)	S29P	probably benign	Het
Itga8	A	T	2: 12,113,998 (GRCm39)	D1039E	probably damaging	Het
Itgae	A	T	11: 73,004,457 (GRCm39)	D248V	probably damaging	Het
Kmt2c	T	C	5: 25,520,093 (GRCm39)	K2006E	probably damaging	Het
Litafd	C	T	16: 8,501,510 (GRCm39)	P59L	unknown	Het
Mdga1	C	T	17: 30,051,353 (GRCm39)	G934R	probably benign	Het
Mov10	T	C	3: 104,703,201 (GRCm39)	N896S	probably benign	Het
Ndufb6	A	T	4: 40,273,080 (GRCm39)		probably null	Het
Nlk	T	C	11: 78,481,831 (GRCm39)		probably null	Het
Notch2	T	A	3: 98,053,939 (GRCm39)	S2201T	probably damaging	Het
Or5i1	A	T	2: 87,613,778 (GRCm39)	D298V	probably damaging	Het
Pank1	A	C	19: 34,799,388 (GRCm39)		probably null	Het
Pdlim3	T	C	8: 46,362,102 (GRCm39)	F126S	probably damaging	Het
Pds5a	C	A	5: 65,795,947 (GRCm39)	G648C	probably benign	Het
Plekhh3	T	C	11: 101,055,153 (GRCm39)	I567V	unknown	Het
Ppfia2	T	C	10: 106,701,264 (GRCm39)		probably null	Het
Prl3d1	A	G	13: 27,284,052 (GRCm39)	D207G	probably damaging	Het
Prss23	T	A	7: 89,159,454 (GRCm39)	D205V	probably benign	Het
Pygl	C	T	12: 70,244,569 (GRCm39)		probably null	Het
Qsox2	A	G	2: 26,111,032 (GRCm39)	F111S	probably damaging	Het
Sart3	T	C	5: 113,909,413 (GRCm39)	N95S	probably benign	Het
Scpep1	A	G	11: 88,820,046 (GRCm39)	F414S	probably damaging	Het
Selenbp1	C	A	3: 94,844,659 (GRCm39)	Y105*	probably null	Het
Sirpa	A	G	2: 129,458,365 (GRCm39)	D327G	probably benign	Het
Sowahc	G	A	10: 59,058,005 (GRCm39)	R47H	probably damaging	Het
Szt2	T	C	4: 118,251,025 (GRCm39)	Y361C	probably damaging	Het
Taf3	A	G	2: 9,945,804 (GRCm39)	V600A	probably benign	Het
Tie1	T	C	4: 118,330,175 (GRCm39)	I1042M	probably damaging	Het
Tmx3	A	G	18: 90,555,233 (GRCm39)	T317A	probably damaging	Het
Tppp3	A	G	8: 106,194,924 (GRCm39)	V69A	probably benign	Het
Tpr	T	C	1: 150,299,267 (GRCm39)	Y1156H	probably damaging	Het
Trank1	A	C	9: 111,194,364 (GRCm39)	D796A	possibly damaging	Het
Tsc2	G	A	17: 24,826,466 (GRCm39)	P928S	probably benign	Het
Unc80	G	T	1: 66,711,843 (GRCm39)	V2722F	possibly damaging	Het
Vmn1r199	G	T	13: 22,566,845 (GRCm39)	L46F	probably benign	Het
Vps13a	A	T	19: 16,727,513 (GRCm39)	H196Q	probably benign	Het
Wnt10a	T	A	1: 74,832,633 (GRCm39)	C75*	probably null	Het
Zfp335	A	G	2: 164,734,459 (GRCm39)		probably null	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
R0613:Tmem132e	UTSW	11	82,329,164 (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
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'- GGCTAGCCTTCTTCCTAAAGG -3'
(R):5'- TAGTAGAGCTCAACCTGCTGGC -3'

Sequencing Primer
(F):5'- TCCTAAAGGAAGCGCGGC -3'
(R):5'- AAGCGACATGAGCTCCGC -3'

Posted On

2019-10-24