Mutagenetix > Incidental Mutation

Incidental Mutation 'R2277:Tmem45a'

242874

Institutional Source

Beutler Lab

Gene Symbol

Tmem45a

Ensembl Gene

ENSMUSG00000022754

Gene Name

transmembrane protein 45a

Synonyms

C630002M10Rik

MMRRC Submission

040276-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R2277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56625524-56706529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56643882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 89 (L89Q)

Ref Sequence

ENSEMBL: ENSMUSP00000155931 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023435] [ENSMUST00000135672] [ENSMUST00000232373]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000023435
AA Change: L89Q

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

SMART Domains

Protein: ENSMUSP00000023435
Gene: ENSMUSG00000022754
AA Change: L89Q

Domain	Start	End	E-Value	Type
transmembrane domain	10	27	N/A	INTRINSIC
transmembrane domain	51	73	N/A	INTRINSIC
transmembrane domain	88	110	N/A	INTRINSIC
Pfam:DUF716	119	239	8.9e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135672

Predicted Effect

probably damaging
Transcript: ENSMUST00000232373
AA Change: L89Q

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13d	T	C	19: 4,331,012 (GRCm39)	H165R	probably benign	Het
Arhgap21	T	C	2: 20,868,037 (GRCm39)	I829V	possibly damaging	Het
Atxn1	T	C	13: 45,710,544 (GRCm39)	N796S	probably damaging	Het
Bdp1	C	A	13: 100,197,838 (GRCm39)	S849I	probably benign	Het
Bdp1	T	A	13: 100,197,847 (GRCm39)	E846V	probably damaging	Het
Cdh4	C	A	2: 179,439,317 (GRCm39)	H155N	possibly damaging	Het
Cela3a	T	C	4: 137,133,187 (GRCm39)	I62V	possibly damaging	Het
Cr2	T	C	1: 194,839,676 (GRCm39)	R960G	possibly damaging	Het
Ddx42	T	A	11: 106,133,765 (GRCm39)	D580E	probably damaging	Het
Dnah17	T	C	11: 117,987,387 (GRCm39)	K1308E	possibly damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Gh	T	C	11: 106,191,613 (GRCm39)	E143G	probably damaging	Het
Hcn3	C	A	3: 89,055,168 (GRCm39)	R693L	probably benign	Het
Hdlbp	G	A	1: 93,335,900 (GRCm39)	R1199*	probably null	Het
Hook2	C	T	8: 85,729,560 (GRCm39)	Q667*	probably null	Het
Ibtk	T	C	9: 85,585,204 (GRCm39)	I1147V	probably benign	Het
Itpk1	T	C	12: 102,536,519 (GRCm39)	T376A	probably benign	Het
Lars1	C	T	18: 42,368,567 (GRCm39)	V425I	probably benign	Het
Lgi4	T	G	7: 30,760,037 (GRCm39)	L78V	probably damaging	Het
Madd	A	T	2: 90,974,028 (GRCm39)	C1419S	possibly damaging	Het
Mamld1	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA	X: 70,162,421 (GRCm39)		probably benign	Het
Mpp2	T	C	11: 101,955,127 (GRCm39)	E166G	probably damaging	Het
Mrgprb5	A	G	7: 47,818,579 (GRCm39)	L52P	probably damaging	Het
Nlrp2	T	C	7: 5,331,128 (GRCm39)	T423A	probably benign	Het
Nphs1	T	A	7: 30,166,989 (GRCm39)	L732*	probably null	Het
Pcdhb10	T	C	18: 37,545,677 (GRCm39)	I251T	possibly damaging	Het
Plcg1	T	A	2: 160,597,725 (GRCm39)	M789K	possibly damaging	Het
Pom121l2	T	C	13: 22,168,417 (GRCm39)	I896T	probably benign	Het
Ptpn4	T	C	1: 119,612,321 (GRCm39)	D24G	probably damaging	Het
Rbm28	T	C	6: 29,135,513 (GRCm39)		probably null	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rhebl1	A	T	15: 98,776,167 (GRCm39)	D162E	probably benign	Het
Runx1t1	T	C	4: 13,771,501 (GRCm39)	V15A	probably benign	Het
Serpina10	T	A	12: 103,593,002 (GRCm39)	I291F	probably benign	Het
Slc23a2	A	G	2: 131,933,179 (GRCm39)	I93T	possibly damaging	Het
Slc25a29	T	C	12: 108,792,852 (GRCm39)	E242G	probably benign	Het
Sulf1	A	C	1: 12,867,018 (GRCm39)	R67S	probably benign	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Top3a	A	C	11: 60,636,700 (GRCm39)	V655G	possibly damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het

Other mutations in Tmem45a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01609:Tmem45a	APN	16	56,631,928 (GRCm39)	missense	probably benign	0.01
IGL03189:Tmem45a	APN	16	56,631,936 (GRCm39)	nonsense	probably null
R1481:Tmem45a	UTSW	16	56,631,965 (GRCm39)	missense	possibly damaging	0.62
R1698:Tmem45a	UTSW	16	56,643,933 (GRCm39)	missense	probably benign	0.10
R1748:Tmem45a	UTSW	16	56,642,701 (GRCm39)	missense	possibly damaging	0.94
R1759:Tmem45a	UTSW	16	56,642,765 (GRCm39)	missense	probably benign
R1921:Tmem45a	UTSW	16	56,642,665 (GRCm39)	missense	probably benign	0.11
R2279:Tmem45a	UTSW	16	56,643,882 (GRCm39)	missense	probably damaging	1.00
R3899:Tmem45a	UTSW	16	56,627,101 (GRCm39)	missense	probably damaging	1.00
R4941:Tmem45a	UTSW	16	56,642,652 (GRCm39)	missense	possibly damaging	0.62
R5489:Tmem45a	UTSW	16	56,646,074 (GRCm39)	splice site	probably null
R6914:Tmem45a	UTSW	16	56,646,145 (GRCm39)	missense	probably benign	0.00
R6942:Tmem45a	UTSW	16	56,646,145 (GRCm39)	missense	probably benign	0.00
R7064:Tmem45a	UTSW	16	56,642,767 (GRCm39)	missense	probably benign	0.00
R7197:Tmem45a	UTSW	16	56,632,026 (GRCm39)	missense	probably damaging	0.99
R7746:Tmem45a	UTSW	16	56,646,100 (GRCm39)	missense	probably damaging	0.98
R9301:Tmem45a	UTSW	16	56,627,134 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATAGCCCTGCCAATCAAGG -3'
(R):5'- AGGCATTTGACAGAAAGCTCAG -3'

Sequencing Primer
(F):5'- CTACATCAATGCACACTGATAGATAG -3'
(R):5'- CATTTGACAGAAAGCTCAGAAGGAG -3'

Posted On

2014-10-16