Mutagenetix > Incidental Mutation

Incidental Mutation 'R9749:Tmem40'

732402

Institutional Source

Beutler Lab

Gene Symbol

Tmem40

Ensembl Gene

ENSMUSG00000059900

Gene Name

transmembrane protein 40

Synonyms

9030407H20Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R9749 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

115706092-115739371 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115719306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 53 (D53G)

Ref Sequence

ENSEMBL: ENSMUSP00000108568 (fasta)

Gene Model

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

AlphaFold

Q4FJU9

Predicted Effect

probably benign
Transcript: ENSMUST00000072933
AA Change: D12G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000072704
Gene: ENSMUSG00000059900
AA Change: D12G

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

probably benign
Transcript: ENSMUST00000112946
AA Change: D53G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000108568
Gene: ENSMUSG00000059900
AA Change: D53G

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

probably benign
Transcript: ENSMUST00000166254
AA Change: D12G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131697
Gene: ENSMUSG00000059900
AA Change: D12G

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

probably benign
Transcript: ENSMUST00000170625
AA Change: D12G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130407
Gene: ENSMUSG00000059900
AA Change: D12G

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,080,521 (GRCm39)	I382F	possibly damaging	Het
Adamtsl3	A	G	7: 82,099,394 (GRCm39)	S183G	probably benign	Het
Adamtsl4	T	C	3: 95,591,457 (GRCm39)	H170R	probably benign	Het
Adcy2	T	C	13: 68,773,974 (GRCm39)	D1023G	probably damaging	Het
Agrn	C	A	4: 156,258,114 (GRCm39)	V1083F	probably benign	Het
Arhgap21	T	C	2: 20,854,026 (GRCm39)	T1789A	probably benign	Het
Atr	T	C	9: 95,819,703 (GRCm39)		probably null	Het
Bcl2l13	T	C	6: 120,842,633 (GRCm39)	S109P	possibly damaging	Het
Bik	A	T	15: 83,425,540 (GRCm39)	T14S	possibly damaging	Het
Car7	A	G	8: 105,275,054 (GRCm39)	D164G	probably damaging	Het
Cat	T	A	2: 103,285,445 (GRCm39)	K499M	probably benign	Het
Ccar2	T	A	14: 70,388,728 (GRCm39)	Q161L	probably benign	Het
Cd109	T	G	9: 78,592,166 (GRCm39)	V760G	probably damaging	Het
Cep350	A	T	1: 155,828,985 (GRCm39)	H246Q	probably benign	Het
Cfap91	A	G	16: 38,128,487 (GRCm39)	I496T	probably damaging	Het
Chst13	T	C	6: 90,295,251 (GRCm39)	D54G	probably damaging	Het
Cilk1	T	A	9: 78,060,999 (GRCm39)	V215E	probably damaging	Het
Col4a4	A	G	1: 82,463,353 (GRCm39)	S1046P	unknown	Het
Col6a5	T	C	9: 105,739,190 (GRCm39)	Q2581R	probably damaging	Het
Cox5b-ps	G	A	13: 21,685,515 (GRCm39)	A25V	probably benign	Het
Csmd2	A	T	4: 128,389,921 (GRCm39)	I2219F		Het
Cux2	G	A	5: 122,007,780 (GRCm39)	S627L	possibly damaging	Het
Cyp2a22	A	T	7: 26,638,715 (GRCm39)	W24R	probably null	Het
Dhrs7c	A	T	11: 67,702,479 (GRCm39)	T156S	probably damaging	Het
Dnah9	A	G	11: 65,986,202 (GRCm39)	V1144A	probably damaging	Het
Folh1	T	C	7: 86,368,908 (GRCm39)	T740A	probably damaging	Het
Foxo4	G	A	X: 100,301,955 (GRCm39)	S209N	probably benign	Het
Gm10300	A	G	4: 131,802,029 (GRCm39)	T8A	unknown	Het
Gns	T	A	10: 121,214,057 (GRCm39)	I244N	probably benign	Het
Gsdmd	A	G	15: 75,735,411 (GRCm39)	K52E	probably damaging	Het
H1f0	A	G	15: 78,913,217 (GRCm39)	D99G	probably benign	Het
Hapln4	T	C	8: 70,539,724 (GRCm39)	Y252H	probably damaging	Het
Hmcn1	A	C	1: 150,632,339 (GRCm39)	I866S	possibly damaging	Het
Hrnr	C	T	3: 93,231,384 (GRCm39)	R541C	unknown	Het
Igkv4-57-1	A	G	6: 69,521,408 (GRCm39)	I98T	probably damaging	Het
Itih3	T	A	14: 30,641,279 (GRCm39)	D253V	probably damaging	Het
Kansl1l	T	A	1: 66,760,970 (GRCm39)	E869D	probably damaging	Het
Kif13a	T	C	13: 46,914,227 (GRCm39)	Q502R	probably damaging	Het
Lama5	T	A	2: 179,825,433 (GRCm39)	Q2447L	probably benign	Het
Lcn6	A	T	2: 25,570,034 (GRCm39)	M1L	probably benign	Het
Lrrtm1	T	C	6: 77,220,855 (GRCm39)	V104A	probably damaging	Het
Map3k13	T	C	16: 21,740,581 (GRCm39)	L636P	probably benign	Het
Melk	T	A	4: 44,307,067 (GRCm39)	H74Q	possibly damaging	Het
Mixl1	A	T	1: 180,522,311 (GRCm39)	M190K	probably benign	Het
Mttp	A	G	3: 137,830,989 (GRCm39)	S27P	probably damaging	Het
Myh6	T	C	14: 55,190,943 (GRCm39)	I911V	probably damaging	Het
Ncapd3	T	A	9: 26,956,873 (GRCm39)	I262N	probably benign	Het
Ncapg2	C	A	12: 116,411,368 (GRCm39)	S1051*	probably null	Het
Nckap1	G	A	2: 80,401,568 (GRCm39)	Q39*	probably null	Het
Nemp1	A	G	10: 127,524,198 (GRCm39)	D76G	probably benign	Het
Or12e10	A	C	2: 87,640,202 (GRCm39)	K13Q	probably benign	Het
Or2a20	G	A	6: 43,194,258 (GRCm39)	W137*	probably null	Het
Or2l13	A	T	16: 19,306,113 (GRCm39)	H175L	possibly damaging	Het
Or4a2	T	A	2: 89,248,662 (GRCm39)	I32F	possibly damaging	Het
Or8k36-ps1	T	C	2: 86,437,909 (GRCm39)	E2G	probably benign	Het
Osbpl5	C	A	7: 143,249,308 (GRCm39)	V578L	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Rabl3	A	G	16: 37,377,190 (GRCm39)	D49G	possibly damaging	Het
Rngtt	A	G	4: 33,368,618 (GRCm39)	I384V	possibly damaging	Het
Robo1	T	C	16: 72,105,257 (GRCm39)		probably benign	Het
Rtcb	C	A	10: 85,785,453 (GRCm39)	R125L	probably damaging	Het
Rtn4rl2	C	A	2: 84,702,954 (GRCm39)	R206L	probably damaging	Het
Sbk2	A	T	7: 4,960,333 (GRCm39)	I279N	probably benign	Het
Scaf1	A	G	7: 44,656,576 (GRCm39)	S768P	unknown	Het
Slc6a9	A	G	4: 117,721,198 (GRCm39)	H316R	probably damaging	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,453,579 (GRCm39)		probably benign	Het
Tas2r136	G	T	6: 132,755,106 (GRCm39)	T7K	probably damaging	Het
Tbc1d9	T	A	8: 83,968,339 (GRCm39)		probably null	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tram1	A	T	1: 13,640,238 (GRCm39)	V272D	possibly damaging	Het
Trpc4	G	A	3: 54,102,302 (GRCm39)	D67N	probably damaging	Het
Ttc6	A	T	12: 57,701,559 (GRCm39)	T591S	probably benign	Het
Ube2g1	A	T	11: 72,570,199 (GRCm39)	E144V	probably benign	Het
Unc80	A	G	1: 66,544,179 (GRCm39)	D434G	probably damaging	Het
Vmn1r168	C	A	7: 23,240,237 (GRCm39)	N31K	probably damaging	Het
Vmn1r79	A	T	7: 11,910,450 (GRCm39)	T111S	probably damaging	Het
Vmn2r118	C	T	17: 55,915,415 (GRCm39)		probably null	Het
Vps35l	C	A	7: 118,352,107 (GRCm39)	D195E	probably benign	Het
Yy1	A	G	12: 108,772,417 (GRCm39)	D231G	possibly damaging	Het
Zfp748	A	G	13: 67,690,573 (GRCm39)	V229A	probably benign	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
R3085:Tmem40	UTSW	6	115,718,576 (GRCm39)	missense	possibly damaging	0.85
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

Predicted Primers

PCR Primer
(F):5'- TGGAAAATCGCTTCTCTGCTACAG -3'
(R):5'- AGTTATGCATTTGAAGACAGCATAC -3'

Sequencing Primer
(F):5'- ACAGCTTTGATGTGGCCATC -3'
(R):5'- GAGTTCAAGACTAGCCTGGTCTAC -3'

Posted On

2022-11-14