Mutagenetix > Incidental Mutation

Incidental Mutation 'R3085:Tmem40'

265576

Institutional Source

Beutler Lab

Gene Symbol

Tmem40

Ensembl Gene

ENSMUSG00000059900

Gene Name

transmembrane protein 40

Synonyms

9030407H20Rik

MMRRC Submission

040574-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R3085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115706092-115739371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115718576 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 43 (D43G)

Ref Sequence

ENSEMBL: ENSMUSP00000130407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072933] [ENSMUST00000112946] [ENSMUST00000166254] [ENSMUST00000170625]

AlphaFold

Q4FJU9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072933
AA Change: D43G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072704
Gene: ENSMUSG00000059900
AA Change: D43G

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
low complexity region	45	71	N/A	INTRINSIC
low complexity region	75	88	N/A	INTRINSIC
low complexity region	120	139	N/A	INTRINSIC
transmembrane domain	151	173	N/A	INTRINSIC
transmembrane domain	177	199	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112946
AA Change: D84G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108568
Gene: ENSMUSG00000059900
AA Change: D84G

Domain	Start	End	E-Value	Type
low complexity region	45	56	N/A	INTRINSIC
low complexity region	86	112	N/A	INTRINSIC
low complexity region	116	129	N/A	INTRINSIC
Pfam:TMEM40	146	265	2.4e-74	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166254
AA Change: D43G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131697
Gene: ENSMUSG00000059900
AA Change: D43G

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
low complexity region	45	71	N/A	INTRINSIC
low complexity region	75	88	N/A	INTRINSIC
low complexity region	120	139	N/A	INTRINSIC
transmembrane domain	151	173	N/A	INTRINSIC
transmembrane domain	177	199	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170625
AA Change: D43G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130407
Gene: ENSMUSG00000059900
AA Change: D43G

Domain	Start	End	E-Value	Type
low complexity region	4	15	N/A	INTRINSIC
low complexity region	95	114	N/A	INTRINSIC
transmembrane domain	126	148	N/A	INTRINSIC
transmembrane domain	152	174	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,270,536 (GRCm39)		probably benign	Het
Adrm1	T	C	2: 179,816,094 (GRCm39)		probably null	Het
Aldh18a1	T	C	19: 40,562,813 (GRCm39)	I76V	probably benign	Het
Atp1b2	T	C	11: 69,493,705 (GRCm39)	K125E	possibly damaging	Het
Cabyr	T	C	18: 12,884,023 (GRCm39)	V170A	probably damaging	Het
Cdh8	T	C	8: 99,923,018 (GRCm39)	T293A	probably benign	Het
Cenpc1	A	T	5: 86,185,476 (GRCm39)	V345D	probably benign	Het
Col4a3	A	G	1: 82,628,979 (GRCm39)	E131G	unknown	Het
Col4a4	C	T	1: 82,507,285 (GRCm39)		probably null	Het
Creb3l1	G	T	2: 91,825,789 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,341,445 (GRCm39)	D601G	probably benign	Het
Dipk1a	G	T	5: 108,062,290 (GRCm39)	D28E	probably damaging	Het
Dnaaf4	T	A	9: 72,879,688 (GRCm39)	N289K	probably benign	Het
Eml6	T	C	11: 29,759,332 (GRCm39)	E807G	probably damaging	Het
Exog	C	A	9: 119,291,518 (GRCm39)	T241K	probably benign	Het
Eya1	T	C	1: 14,344,314 (GRCm39)	D109G	probably benign	Het
Fat2	C	T	11: 55,142,997 (GRCm39)	R4284H	possibly damaging	Het
Fbxw13	C	A	9: 109,013,299 (GRCm39)	G130*	probably null	Het
Fcrl5	A	G	3: 87,353,771 (GRCm39)	Y372C	probably damaging	Het
Gli3	T	C	13: 15,835,526 (GRCm39)	S435P	probably damaging	Het
Gsg1l	C	T	7: 125,490,852 (GRCm39)	R284H	probably benign	Het
Havcr1	C	T	11: 46,647,052 (GRCm39)	T162I	probably damaging	Het
Igdcc4	T	C	9: 65,039,340 (GRCm39)	F947S	probably damaging	Het
Irx1	G	T	13: 72,111,411 (GRCm39)	A66E	probably damaging	Het
Klf11	T	C	12: 24,705,490 (GRCm39)	S315P	probably benign	Het
Kynu	A	G	2: 43,492,312 (GRCm39)	M190V	probably benign	Het
Lrp2	T	C	2: 69,297,479 (GRCm39)	T3161A	probably benign	Het
Macrod1	G	T	19: 7,173,859 (GRCm39)	A208S	probably damaging	Het
Mamdc2	G	A	19: 23,288,296 (GRCm39)	H581Y	possibly damaging	Het
Megf8	T	A	7: 25,048,444 (GRCm39)	Y1706N	probably damaging	Het
Mthfd1l	G	A	10: 4,040,007 (GRCm39)	R806H	probably benign	Het
Nags	T	A	11: 102,036,810 (GRCm39)	V133D	probably damaging	Het
Nrg3	C	A	14: 38,092,906 (GRCm39)	D560Y	probably damaging	Het
Or4f60	C	A	2: 111,902,320 (GRCm39)	G203*	probably null	Het
Or4k36	A	G	2: 111,146,461 (GRCm39)	I212M	probably benign	Het
Or4p23	A	G	2: 88,576,488 (GRCm39)	F248S	probably damaging	Het
Or5af2	T	C	11: 58,708,553 (GRCm39)	S240P	probably damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pde6d	T	C	1: 86,475,248 (GRCm39)		probably null	Het
Plekhf1	T	C	7: 37,921,001 (GRCm39)	E189G	probably benign	Het
Ppm1b	A	T	17: 85,321,288 (GRCm39)	I477L	probably benign	Het
Rad51ap2	C	A	12: 11,506,758 (GRCm39)	Q227K	possibly damaging	Het
Rnf125	T	C	18: 21,110,787 (GRCm39)	V15A	probably benign	Het
Rnps1	C	T	17: 24,631,393 (GRCm39)		probably benign	Het
Robo1	A	G	16: 72,798,898 (GRCm39)	I953V	possibly damaging	Het
Sash1	A	T	10: 8,618,186 (GRCm39)		probably null	Het
Smarcc2	T	C	10: 128,324,028 (GRCm39)		probably benign	Het
Stx12	T	A	4: 132,584,672 (GRCm39)	E224V	probably damaging	Het
Sun1	T	C	5: 139,221,356 (GRCm39)	V357A	probably benign	Het
Synpo2l	T	C	14: 20,712,248 (GRCm39)	D350G	probably damaging	Het
Tex15	A	T	8: 34,064,913 (GRCm39)	N1448Y	probably benign	Het
Tfpi	A	G	2: 84,273,227 (GRCm39)		probably benign	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Tshz2	T	A	2: 169,725,871 (GRCm39)	C156S	probably benign	Het
Vmn2r101	T	A	17: 19,809,077 (GRCm39)		probably null	Het
Vmn2r85	T	C	10: 130,261,081 (GRCm39)	M419V	probably benign	Het
Wdr73	G	A	7: 80,550,990 (GRCm39)		probably benign	Het
Zc3hc1	C	T	6: 30,374,763 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,682,664 (GRCm39)	Y3368H	unknown	Het
Zfp263	G	A	16: 3,567,580 (GRCm39)	E632K	probably damaging	Het
Zfp266	A	G	9: 20,412,240 (GRCm39)	L111P	probably damaging	Het
Zfp626	T	A	7: 27,517,587 (GRCm39)	S189R	probably benign	Het
Zfp772	T	C	7: 7,206,699 (GRCm39)	R331G	possibly damaging	Het
Zkscan5	G	A	5: 145,157,889 (GRCm39)	C797Y	probably damaging	Het

Other mutations in Tmem40

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0403:Tmem40	UTSW	6	115,710,946 (GRCm39)	splice site	probably benign
R1740:Tmem40	UTSW	6	115,715,960 (GRCm39)	missense	probably benign
R2238:Tmem40	UTSW	6	115,708,038 (GRCm39)	nonsense	probably null
R2909:Tmem40	UTSW	6	115,713,342 (GRCm39)	critical splice donor site	probably null
R5437:Tmem40	UTSW	6	115,735,992 (GRCm39)	intron	probably benign
R5806:Tmem40	UTSW	6	115,713,373 (GRCm39)	missense	probably benign	0.33
R6086:Tmem40	UTSW	6	115,710,628 (GRCm39)	missense	possibly damaging	0.85
R7202:Tmem40	UTSW	6	115,707,420 (GRCm39)	missense	probably damaging	0.99
R9130:Tmem40	UTSW	6	115,710,980 (GRCm39)	missense	possibly damaging	0.71
R9469:Tmem40	UTSW	6	115,719,321 (GRCm39)	missense	possibly damaging	0.73
R9680:Tmem40	UTSW	6	115,718,517 (GRCm39)	missense	possibly damaging	0.73
R9749:Tmem40	UTSW	6	115,719,306 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CTCGATGTTGTTATAAACTCAGCCC -3'
(R):5'- TTCAGAAGAGTAGTCCTCCCTC -3'

Sequencing Primer
(F):5'- CCTCCTAAATGCTGGGATTAAAGCG -3'
(R):5'- AGAAGAGTAGTCCTCCCTCTTAGC -3'

Posted On

2015-02-05