Mutagenetix > Incidental Mutation

Incidental Mutation 'R0839:Tmem33'

78095

Institutional Source

Beutler Lab

Gene Symbol

Tmem33

Ensembl Gene

ENSMUSG00000037720

Gene Name

transmembrane protein 33

Synonyms

2700052H22Rik, 5430406L04Rik, 1110006G02Rik, 1600019D15Rik, 2410089A21Rik

MMRRC Submission

039018-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.168) question?

Stock #

R0839 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67417908-67448804 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67421651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 60 (L60Q)

Ref Sequence

ENSEMBL: ENSMUSP00000124765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037918] [ENSMUST00000160352] [ENSMUST00000161233] [ENSMUST00000161369] [ENSMUST00000162074] [ENSMUST00000162543] [ENSMUST00000201979]

AlphaFold

Q9CR67

Predicted Effect

probably damaging
Transcript: ENSMUST00000037918
AA Change: L60Q

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

SMART Domains

Protein: ENSMUSP00000042852
Gene: ENSMUSG00000037720
AA Change: L60Q

Domain	Start	End	E-Value	Type
Pfam:UPF0121	1	247	9.8e-126	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160352
AA Change: L60Q

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

SMART Domains

Protein: ENSMUSP00000124766
Gene: ENSMUSG00000037720
AA Change: L60Q

Domain	Start	End	E-Value	Type
Pfam:UPF0121	1	246	2.8e-126	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161233

Predicted Effect

probably damaging
Transcript: ENSMUST00000161369
AA Change: L60Q

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

SMART Domains

Protein: ENSMUSP00000124390
Gene: ENSMUSG00000037720
AA Change: L60Q

Domain	Start	End	E-Value	Type
Pfam:UPF0121	7	245	1.8e-100	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162074

Predicted Effect

probably damaging
Transcript: ENSMUST00000162543
AA Change: L60Q

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

SMART Domains

Protein: ENSMUSP00000124765
Gene: ENSMUSG00000037720
AA Change: L60Q

Domain	Start	End	E-Value	Type
Pfam:UPF0121	1	119	2.1e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201816

Predicted Effect

probably benign
Transcript: ENSMUST00000201979

SMART Domains

Protein: ENSMUSP00000144531
Gene: ENSMUSG00000037720

Domain	Start	End	E-Value	Type
Pfam:UPF0121	7	61	5.9e-7	PFAM

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	A	3: 121,920,527 (GRCm39)	V1083M	probably damaging	Het
Aco2	A	G	15: 81,791,736 (GRCm39)		probably null	Het
AI661453	A	T	17: 47,747,752 (GRCm39)	Q8L	probably null	Het
Ankrd42	T	C	7: 92,261,980 (GRCm39)	D295G	possibly damaging	Het
Ccdc73	A	T	2: 104,821,442 (GRCm39)	I464L	probably benign	Het
Cdc5l	A	C	17: 45,704,073 (GRCm39)	M717R	probably benign	Het
Col4a1	G	A	8: 11,271,015 (GRCm39)	P809S	probably damaging	Het
Dctn1	T	C	6: 83,167,459 (GRCm39)	M358T	possibly damaging	Het
Dgkz	A	G	2: 91,765,456 (GRCm39)	S799P	probably benign	Het
Dna2	T	C	10: 62,805,561 (GRCm39)	C933R	probably damaging	Het
Dock6	T	C	9: 21,729,188 (GRCm39)	N1275S	probably benign	Het
Ect2l	A	G	10: 18,017,652 (GRCm39)	I659T	probably benign	Het
Ets1	T	A	9: 32,645,357 (GRCm39)	Y201*	probably null	Het
Gle1	T	A	2: 29,848,462 (GRCm39)	C679S	probably benign	Het
Gm10118	T	G	10: 63,762,643 (GRCm39)		probably benign	Het
Guk1	G	A	11: 59,075,921 (GRCm39)	R146C	probably damaging	Het
H2-Q7	A	G	17: 35,658,688 (GRCm39)	S109G	probably damaging	Het
Igfn1	A	G	1: 135,882,418 (GRCm39)	V2809A	probably damaging	Het
Izumo1	T	A	7: 45,276,536 (GRCm39)	D366E	probably benign	Het
Kctd20	A	T	17: 29,176,872 (GRCm39)	M1L	possibly damaging	Het
Lct	C	T	1: 128,214,346 (GRCm39)	A1809T	probably benign	Het
Manea	T	C	4: 26,327,983 (GRCm39)	I353V	probably damaging	Het
Mybl2	T	C	2: 162,917,688 (GRCm39)	Y65H	probably benign	Het
Myh11	C	T	16: 14,021,042 (GRCm39)	E1744K	probably damaging	Het
Neb	T	C	2: 52,167,560 (GRCm39)	D1922G	probably damaging	Het
Nepro	C	A	16: 44,556,382 (GRCm39)	D513E	probably benign	Het
Nnt	A	T	13: 119,531,192 (GRCm39)	I185K	possibly damaging	Het
Npat	A	T	9: 53,456,480 (GRCm39)	Q17L	probably damaging	Het
Nup155	A	G	15: 8,175,071 (GRCm39)	E956G	possibly damaging	Het
Or1e35	T	A	11: 73,798,138 (GRCm39)	Y60F	probably damaging	Het
Or1x6	A	G	11: 50,939,254 (GRCm39)	I107V	probably benign	Het
Or2a14	T	A	6: 43,130,558 (GRCm39)	F106L	probably benign	Het
Or4q3	A	G	14: 50,583,545 (GRCm39)	V118A	probably damaging	Het
Or8g18	A	T	9: 39,149,146 (GRCm39)	N191K	possibly damaging	Het
Or8g4	A	T	9: 39,661,687 (GRCm39)	I2L	probably benign	Het
Or9e1	G	A	11: 58,732,478 (GRCm39)	M179I	probably benign	Het
Pah	T	C	10: 87,357,924 (GRCm39)	S16P	probably damaging	Het
Pcdh15	C	A	10: 74,462,614 (GRCm39)	P1365Q	probably null	Het
Pds5b	G	T	5: 150,688,427 (GRCm39)	V640F	probably benign	Het
Pgam5	A	T	5: 110,414,996 (GRCm39)	H72Q	probably benign	Het
Plagl2	C	A	2: 153,074,461 (GRCm39)	A147S	probably damaging	Het
Ppfia4	A	T	1: 134,256,545 (GRCm39)	L113Q	probably null	Het
Ppp1r12a	T	C	10: 108,034,722 (GRCm39)	V89A	probably damaging	Het
Ptprc	A	G	1: 138,028,870 (GRCm39)	Y443H	possibly damaging	Het
Ralgapb	T	C	2: 158,315,203 (GRCm39)		probably null	Het
Rgsl1	A	G	1: 153,677,980 (GRCm39)		probably null	Het
Rubcn	A	C	16: 32,647,713 (GRCm39)	I681M	probably damaging	Het
Scaf11	A	G	15: 96,321,434 (GRCm39)	L169S	probably damaging	Het
Scgb1b27	A	G	7: 33,721,276 (GRCm39)	K55E	probably benign	Het
Sos1	A	T	17: 80,741,159 (GRCm39)	I542N	probably damaging	Het
Syf2	T	A	4: 134,663,374 (GRCm39)	V182D	probably damaging	Het
Tapbp	T	C	17: 34,144,717 (GRCm39)	V271A	probably benign	Het
Tmf1	A	G	6: 97,153,284 (GRCm39)	V263A	probably damaging	Het
Vps13c	T	C	9: 67,806,020 (GRCm39)	V798A	probably benign	Het
Zfp384	C	A	6: 125,013,631 (GRCm39)	D550E	probably benign	Het

Other mutations in Tmem33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:Tmem33	APN	5	67,441,538 (GRCm39)	missense	probably damaging	1.00
IGL02076:Tmem33	APN	5	67,443,446 (GRCm39)	missense	probably damaging	1.00
IGL03106:Tmem33	APN	5	67,421,139 (GRCm39)	missense	probably damaging	1.00
commonplace	UTSW	5	67,421,802 (GRCm39)	critical splice donor site	probably null
R0573:Tmem33	UTSW	5	67,421,603 (GRCm39)	intron	probably benign
R1129:Tmem33	UTSW	5	67,421,803 (GRCm39)	splice site	probably null
R1438:Tmem33	UTSW	5	67,424,634 (GRCm39)	splice site	probably null
R1692:Tmem33	UTSW	5	67,425,897 (GRCm39)	missense	probably null	0.57
R4513:Tmem33	UTSW	5	67,443,468 (GRCm39)	missense	probably benign	0.02
R4763:Tmem33	UTSW	5	67,443,479 (GRCm39)	missense	probably benign	0.22
R6298:Tmem33	UTSW	5	67,425,894 (GRCm39)	nonsense	probably null
R6673:Tmem33	UTSW	5	67,443,468 (GRCm39)	missense	probably benign	0.02
R6813:Tmem33	UTSW	5	67,421,802 (GRCm39)	critical splice donor site	probably null
R7186:Tmem33	UTSW	5	67,421,130 (GRCm39)	missense	possibly damaging	0.68
R7378:Tmem33	UTSW	5	67,443,476 (GRCm39)	missense	probably benign
R8402:Tmem33	UTSW	5	67,424,718 (GRCm39)	splice site	probably benign
R9747:Tmem33	UTSW	5	67,425,922 (GRCm39)	missense	possibly damaging	0.88

Predicted Primers

PCR Primer
(F):5'- TGACTGCTCGTTGAAAAGCTGAGG -3'
(R):5'- CTCCACTGTCCCAGCAATGAAAGG -3'

Sequencing Primer
(F):5'- CCCAGAGTGTGGAGTACATTTG -3'
(R):5'- TCCCAGCAATGAAAGGATACTTG -3'

Posted On

2013-10-16