Mutagenetix > Incidental Mutation

Incidental Mutation 'R7746:Tmem45a'

596859

Institutional Source

Beutler Lab

Gene Symbol

Tmem45a

Ensembl Gene

ENSMUSG00000022754

Gene Name

transmembrane protein 45a

Synonyms

C630002M10Rik

MMRRC Submission

045802-MU

Accession Numbers

Essential gene?

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

Stock #

R7746 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56625524-56706529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56646100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 40 (L40P)

Ref Sequence

ENSEMBL: ENSMUSP00000023435 (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: L40P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023435
Gene: ENSMUSG00000022754
AA Change: L40P

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 damaging
Transcript: ENSMUST00000135672
AA Change: L40P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232373
AA Change: L40P

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	T	2: 68,559,339 (GRCm39)	Q184L	probably benign	Het
9030624G23Rik	T	G	12: 24,124,674 (GRCm39)	S68R	possibly damaging	Het
Acyp1	G	T	12: 85,325,832 (GRCm39)	R56S	unknown	Het
Angpt2	C	T	8: 18,742,080 (GRCm39)	R492Q	probably damaging	Het
Ankrd36	T	C	11: 5,637,451 (GRCm39)	L1340P	possibly damaging	Het
Arhgef33	G	C	17: 80,654,549 (GRCm39)		probably null	Het
Bach1	G	A	16: 87,526,521 (GRCm39)	S661N	probably benign	Het
Bik	T	C	15: 83,425,535 (GRCm39)	I12T	possibly damaging	Het
C3	C	T	17: 57,525,859 (GRCm39)	R841H	probably damaging	Het
Cacna1s	G	T	1: 135,996,756 (GRCm39)	R119L	probably damaging	Het
Cic	G	A	7: 24,988,207 (GRCm39)	V1632M	probably damaging	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Dchs2	A	G	3: 83,035,364 (GRCm39)	H37R	possibly damaging	Het
Dvl1	A	G	4: 155,940,696 (GRCm39)	I439V	possibly damaging	Het
Fat1	G	A	8: 45,404,670 (GRCm39)	D474N	probably damaging	Het
Foxs1	T	A	2: 152,775,028 (GRCm39)	E8D	probably benign	Het
Garnl3	T	C	2: 32,882,269 (GRCm39)	D822G	probably damaging	Het
Gm44501	C	T	17: 40,889,720 (GRCm39)	A78V	possibly damaging	Het
Gpr19	C	A	6: 134,846,355 (GRCm39)	A443S	probably damaging	Het
Helb	T	C	10: 119,931,007 (GRCm39)	R729G	probably null	Het
Lnpep	G	T	17: 17,758,824 (GRCm39)	T840K	probably benign	Het
Mctp2	T	C	7: 71,835,544 (GRCm39)	N551S	probably benign	Het
Mgam	T	G	6: 40,645,127 (GRCm39)	F635V	probably damaging	Het
Mlc1	G	A	15: 88,848,373 (GRCm39)	A262V	probably damaging	Het
Msantd5f9	C	T	4: 73,838,099 (GRCm39)	S29N	possibly damaging	Het
Muc5b	A	G	7: 141,415,976 (GRCm39)	Y2974C	probably benign	Het
Nprl3	A	T	11: 32,198,150 (GRCm39)	Y208*	probably null	Het
Or2n1d	C	T	17: 38,646,285 (GRCm39)	P79L	probably benign	Het
Or8k40	A	T	2: 86,584,437 (GRCm39)	L215Q	probably damaging	Het
Pkn2	A	G	3: 142,499,868 (GRCm39)	F915S	probably damaging	Het
Pkn3	G	A	2: 29,980,596 (GRCm39)	C829Y	probably benign	Het
Polr1a	C	T	6: 71,918,496 (GRCm39)	P685S	probably damaging	Het
Ppp4r3b	A	G	11: 29,123,352 (GRCm39)	D16G	probably benign	Het
Ppwd1	C	T	13: 104,353,714 (GRCm39)	R348H	probably damaging	Het
Pxdc1	T	C	13: 34,823,046 (GRCm39)	T98A	probably benign	Het
Rhbdl1	T	C	17: 26,055,167 (GRCm39)	I68V	probably benign	Het
Ror2	A	G	13: 53,271,261 (GRCm39)	C365R	probably damaging	Het
Samd4b	A	T	7: 28,103,328 (GRCm39)	H43Q	probably damaging	Het
Sbf2	A	T	7: 110,040,633 (GRCm39)	V398D	probably benign	Het
Sbno2	T	C	10: 79,894,708 (GRCm39)	I1012M	probably damaging	Het
Serpinb9h	A	T	13: 33,581,841 (GRCm39)	I133L	probably damaging	Het
Strn	T	C	17: 78,984,801 (GRCm39)	T281A	probably benign	Het
Syt4	T	A	18: 31,577,318 (GRCm39)	D12V	probably benign	Het
Tafa1	T	C	6: 96,092,737 (GRCm39)		probably null	Het
Tnn	G	A	1: 159,942,255 (GRCm39)	P1081L	probably damaging	Het
Unc80	T	C	1: 66,716,544 (GRCm39)	V2888A	probably benign	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
R2277:Tmem45a	UTSW	16	56,643,882 (GRCm39)	missense	probably damaging	1.00
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
R9301:Tmem45a	UTSW	16	56,627,134 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGTAATTGGGTTAAGTACTAAGCAAC -3'
(R):5'- CCACACAGCAGTAGATTTGGTG -3'

Sequencing Primer
(F):5'- GCTCATGAAATACTCAAAAGG -3'
(R):5'- CAGCAGTAGATTTGGTGGGGAC -3'

Posted On

2019-11-26