Mutagenetix > Incidental Mutation

Incidental Mutation 'R4591:Tmem245'

342807

Institutional Source

Beutler Lab

Gene Symbol

Tmem245

Ensembl Gene

ENSMUSG00000055296

Gene Name

transmembrane protein 245

Synonyms

D730040F13Rik, A630051L19Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.298) question?

Stock #

R4591 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56866923-56947437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 56910204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 515 (A515S)

Ref Sequence

ENSEMBL: ENSMUSP00000103234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068792] [ENSMUST00000107609] [ENSMUST00000132816]

AlphaFold

B1AZA5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068792
AA Change: A523S

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000067421
Gene: ENSMUSG00000055296
AA Change: A523S

Domain	Start	End	E-Value	Type
low complexity region	4	25	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	109	131	N/A	INTRINSIC
transmembrane domain	144	166	N/A	INTRINSIC
transmembrane domain	181	203	N/A	INTRINSIC
transmembrane domain	212	231	N/A	INTRINSIC
transmembrane domain	235	252	N/A	INTRINSIC
low complexity region	309	330	N/A	INTRINSIC
transmembrane domain	351	373	N/A	INTRINSIC
transmembrane domain	457	479	N/A	INTRINSIC
Pfam:UPF0118	589	838	1.7e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082661

Predicted Effect

probably damaging
Transcript: ENSMUST00000107609
AA Change: A515S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103234
Gene: ENSMUSG00000055296
AA Change: A515S

Domain	Start	End	E-Value	Type
low complexity region	4	25	N/A	INTRINSIC
transmembrane domain	50	72	N/A	INTRINSIC
transmembrane domain	109	131	N/A	INTRINSIC
transmembrane domain	144	166	N/A	INTRINSIC
transmembrane domain	181	203	N/A	INTRINSIC
transmembrane domain	212	231	N/A	INTRINSIC
transmembrane domain	235	252	N/A	INTRINSIC
low complexity region	309	330	N/A	INTRINSIC
transmembrane domain	351	373	N/A	INTRINSIC
transmembrane domain	449	471	N/A	INTRINSIC
Pfam:UPF0118	585	842	1.1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125082

Predicted Effect

probably damaging
Transcript: ENSMUST00000132816
AA Change: A118S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117449
Gene: ENSMUSG00000055296
AA Change: A118S

Domain	Start	End	E-Value	Type
transmembrane domain	52	74	N/A	INTRINSIC
Pfam:UPF0118	182	433	4.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155625

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	C	3: 68,777,599 (GRCm39)	S187P	possibly damaging	Het
4932438H23Rik	T	C	16: 90,852,959 (GRCm39)	N59S	probably damaging	Het
Abca15	A	T	7: 119,981,636 (GRCm39)	D1030V	probably damaging	Het
Acmsd	A	T	1: 127,676,934 (GRCm39)	N153I	probably damaging	Het
Adprh	C	A	16: 38,266,345 (GRCm39)	V266L	probably benign	Het
Aldh5a1	G	A	13: 25,107,991 (GRCm39)	P217S	probably damaging	Het
Alpk2	A	T	18: 65,438,894 (GRCm39)	L1300Q	probably benign	Het
Alyref	C	T	11: 120,486,799 (GRCm39)	R154Q	probably benign	Het
Ano6	T	A	15: 95,841,308 (GRCm39)	C468*	probably null	Het
Aox3	A	T	1: 58,191,815 (GRCm39)	I456F	probably damaging	Het
Art4	A	G	6: 136,831,755 (GRCm39)	Y129H	probably damaging	Het
Asb16	C	A	11: 102,167,551 (GRCm39)	H306N	probably damaging	Het
Atp8a2	C	A	14: 59,892,078 (GRCm39)	R1090L	probably benign	Het
Brap	G	T	5: 121,800,113 (GRCm39)	V1F	probably null	Het
C1qb	C	A	4: 136,609,528 (GRCm39)	G31W	probably damaging	Het
Cacna2d4	T	C	6: 119,275,425 (GRCm39)	Y666H	probably benign	Het
Casr	T	C	16: 36,320,732 (GRCm39)	N472S	probably benign	Het
Ccdc91	T	G	6: 147,491,963 (GRCm39)	S282A	unknown	Het
Cd300lg	A	G	11: 101,937,006 (GRCm39)	T164A	probably benign	Het
Cd79b	A	T	11: 106,202,872 (GRCm39)	D243E	probably damaging	Het
Cdh6	C	A	15: 13,051,572 (GRCm39)	V354F	possibly damaging	Het
Cdhr2	A	G	13: 54,863,497 (GRCm39)	N126S	probably benign	Het
Cep192	A	T	18: 67,968,039 (GRCm39)	N841I	probably damaging	Het
Cngb1	T	C	8: 95,980,012 (GRCm39)	T963A	probably damaging	Het
Col16a1	A	G	4: 129,955,592 (GRCm39)		probably null	Het
Coro1a	A	G	7: 126,302,164 (GRCm39)	V61A	probably damaging	Het
Crocc	T	A	4: 140,745,983 (GRCm39)	D1712V	probably damaging	Het
Ddn	T	C	15: 98,705,687 (GRCm39)	D3G	possibly damaging	Het
Dnal1	T	C	12: 84,180,627 (GRCm39)	F89S	probably benign	Het
Dusp3	T	A	11: 101,864,446 (GRCm39)		probably benign	Het
Dyrk3	C	A	1: 131,057,895 (GRCm39)	G58C	probably damaging	Het
Fat1	T	C	8: 45,479,279 (GRCm39)	F2775S	probably benign	Het
Frk	A	G	10: 34,481,829 (GRCm39)	N373S	probably benign	Het
Glmn	A	G	5: 107,708,917 (GRCm39)		probably null	Het
Gm11565	A	T	11: 99,805,769 (GRCm39)	T54S	possibly damaging	Het
Gm14410	A	G	2: 176,885,820 (GRCm39)	I148T	possibly damaging	Het
Gm21834	T	A	17: 58,048,880 (GRCm39)	H112L	possibly damaging	Het
Gm5862	A	G	5: 26,224,486 (GRCm39)	I161T	possibly damaging	Het
Grid2	G	T	6: 64,297,086 (GRCm39)	G483V	probably damaging	Het
Hfm1	A	T	5: 106,995,533 (GRCm39)	S1293T	probably benign	Het
Il1a	G	A	2: 129,148,447 (GRCm39)	R88W	probably damaging	Het
Il20rb	A	T	9: 100,357,043 (GRCm39)	V29D	possibly damaging	Het
Ilvbl	C	T	10: 78,419,139 (GRCm39)	L463F	probably benign	Het
Kif17	A	G	4: 138,005,110 (GRCm39)	E225G	probably benign	Het
Lrp2	A	G	2: 69,366,419 (GRCm39)	F227L	probably damaging	Het
Lrrc43	A	G	5: 123,639,227 (GRCm39)	M419V	probably benign	Het
Magel2	A	G	7: 62,030,837 (GRCm39)	Q1247R	unknown	Het
Mamdc4	T	A	2: 25,454,609 (GRCm39)	M1068L	possibly damaging	Het
Mdn1	T	G	4: 32,707,636 (GRCm39)	S1642A	probably damaging	Het
Mtarc1	T	C	1: 184,539,365 (GRCm39)	E102G	probably benign	Het
Mtcl1	T	C	17: 66,655,506 (GRCm39)	E819G	probably benign	Het
Naa15	T	C	3: 51,349,345 (GRCm39)	L38P	probably damaging	Het
Nlrp3	A	G	11: 59,440,048 (GRCm39)	R542G	probably benign	Het
Or10c1	C	T	17: 37,522,010 (GRCm39)	V245I	probably benign	Het
Or4d2b	A	G	11: 87,780,375 (GRCm39)	S116P	probably benign	Het
Or5ac19	A	C	16: 59,089,776 (GRCm39)	F85V	possibly damaging	Het
Or5b125-ps1	ACAC	ACACGCAC	19: 13,056,266 (GRCm39)		noncoding transcript	Het
Pbxip1	T	A	3: 89,353,467 (GRCm39)	L249Q	probably benign	Het
Pla2g7	T	C	17: 43,911,450 (GRCm39)	S201P	probably damaging	Het
Psmd1	G	T	1: 86,055,926 (GRCm39)	V763F	probably benign	Het
Ptp4a2	A	G	4: 129,740,308 (GRCm39)	E124G	probably benign	Het
Rab6b	T	C	9: 103,044,373 (GRCm39)		probably null	Het
Rbks	T	A	5: 31,817,352 (GRCm39)	K139M	possibly damaging	Het
Rgs22	T	A	15: 36,100,282 (GRCm39)	E268D	probably benign	Het
Slc16a9	T	G	10: 70,118,710 (GRCm39)	L343R	probably damaging	Het
Smagp	T	C	15: 100,519,860 (GRCm39)	I55V	probably damaging	Het
Sox13	T	C	1: 133,311,421 (GRCm39)	S604G	probably damaging	Het
St6gal1	G	T	16: 23,140,044 (GRCm39)	V72F	probably benign	Het
Stxbp4	A	G	11: 90,485,606 (GRCm39)	V247A	probably benign	Het
Susd3	A	T	13: 49,384,736 (GRCm39)	M217K	possibly damaging	Het
Tas2r129	T	A	6: 132,928,574 (GRCm39)	N170K	probably benign	Het
Tpte	T	C	8: 22,817,791 (GRCm39)	V259A	probably benign	Het
Trpa1	T	C	1: 14,952,332 (GRCm39)		probably null	Het
Ttc28	G	A	5: 111,371,147 (GRCm39)	R532H	probably damaging	Het
Vwa5a	A	T	9: 38,646,916 (GRCm39)	N529I	possibly damaging	Het
Zfp574	T	C	7: 24,778,969 (GRCm39)		probably benign	Het

Other mutations in Tmem245

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02472:Tmem245	APN	4	56,899,119 (GRCm39)	missense	probably damaging	1.00
IGL02668:Tmem245	APN	4	56,925,081 (GRCm39)	missense	possibly damaging	0.86
IGL03093:Tmem245	APN	4	56,886,019 (GRCm39)	missense	probably damaging	1.00
Integral	UTSW	4	56,899,170 (GRCm39)	missense	possibly damaging	0.79
leibniz	UTSW	4	56,916,770 (GRCm39)	missense	probably benign	0.02
R0090:Tmem245	UTSW	4	56,899,410 (GRCm39)	missense	probably benign
R0116:Tmem245	UTSW	4	56,926,213 (GRCm39)	missense	probably benign	0.00
R0648:Tmem245	UTSW	4	56,906,270 (GRCm39)	missense	probably benign	0.38
R0864:Tmem245	UTSW	4	56,890,837 (GRCm39)	missense	probably damaging	1.00
R1102:Tmem245	UTSW	4	56,903,200 (GRCm39)	intron	probably benign
R1548:Tmem245	UTSW	4	56,906,233 (GRCm39)	nonsense	probably null
R1778:Tmem245	UTSW	4	56,903,968 (GRCm39)	missense	probably damaging	1.00
R1840:Tmem245	UTSW	4	56,903,947 (GRCm39)	missense	probably benign	0.03
R1942:Tmem245	UTSW	4	56,923,511 (GRCm39)	unclassified	probably benign
R1969:Tmem245	UTSW	4	56,937,964 (GRCm39)	missense	probably benign	0.01
R2341:Tmem245	UTSW	4	56,937,957 (GRCm39)	missense	probably damaging	1.00
R2364:Tmem245	UTSW	4	56,899,391 (GRCm39)	missense	probably damaging	0.96
R3848:Tmem245	UTSW	4	56,926,298 (GRCm39)	unclassified	probably benign
R4772:Tmem245	UTSW	4	56,937,989 (GRCm39)	splice site	probably null
R4779:Tmem245	UTSW	4	56,936,468 (GRCm39)	missense	possibly damaging	0.65
R4860:Tmem245	UTSW	4	56,899,164 (GRCm39)	missense	probably damaging	1.00
R4860:Tmem245	UTSW	4	56,899,164 (GRCm39)	missense	probably damaging	1.00
R5049:Tmem245	UTSW	4	56,925,057 (GRCm39)	missense	probably benign	0.12
R5061:Tmem245	UTSW	4	56,946,945 (GRCm39)	missense	possibly damaging	0.94
R5199:Tmem245	UTSW	4	56,925,149 (GRCm39)	missense	probably benign	0.12
R5377:Tmem245	UTSW	4	56,947,084 (GRCm39)	missense	probably damaging	0.99
R5547:Tmem245	UTSW	4	56,910,156 (GRCm39)	critical splice donor site	probably null
R5846:Tmem245	UTSW	4	56,903,241 (GRCm39)	missense	probably benign	0.00
R5851:Tmem245	UTSW	4	56,916,770 (GRCm39)	missense	probably benign	0.02
R5991:Tmem245	UTSW	4	56,916,733 (GRCm39)	missense	probably damaging	1.00
R6314:Tmem245	UTSW	4	56,888,592 (GRCm39)	missense	possibly damaging	0.88
R6992:Tmem245	UTSW	4	56,937,940 (GRCm39)	missense	probably benign	0.03
R7172:Tmem245	UTSW	4	56,903,946 (GRCm39)	missense	possibly damaging	0.65
R7632:Tmem245	UTSW	4	56,916,787 (GRCm39)	missense	probably benign	0.00
R7660:Tmem245	UTSW	4	56,899,170 (GRCm39)	missense	possibly damaging	0.79
R7672:Tmem245	UTSW	4	56,947,069 (GRCm39)	missense	probably benign
R7735:Tmem245	UTSW	4	56,925,155 (GRCm39)	missense	probably benign	0.22
R7900:Tmem245	UTSW	4	56,924,973 (GRCm39)	splice site	probably null
R8280:Tmem245	UTSW	4	56,890,884 (GRCm39)	missense	possibly damaging	0.89
R8306:Tmem245	UTSW	4	56,886,037 (GRCm39)	missense	probably damaging	0.96
R8446:Tmem245	UTSW	4	56,906,261 (GRCm39)	missense	probably benign	0.24
R8447:Tmem245	UTSW	4	56,906,261 (GRCm39)	missense	probably benign	0.24
R8491:Tmem245	UTSW	4	56,906,261 (GRCm39)	missense	probably benign	0.24
R8524:Tmem245	UTSW	4	56,906,261 (GRCm39)	missense	probably benign	0.24
R8750:Tmem245	UTSW	4	56,886,141 (GRCm39)	missense	probably damaging	1.00
R8756:Tmem245	UTSW	4	56,899,025 (GRCm39)	critical splice donor site	probably null
R8899:Tmem245	UTSW	4	56,903,916 (GRCm39)	critical splice donor site	probably null
R9035:Tmem245	UTSW	4	56,922,384 (GRCm39)	intron	probably benign
R9267:Tmem245	UTSW	4	56,947,236 (GRCm39)	missense	probably benign	0.03
R9292:Tmem245	UTSW	4	56,926,173 (GRCm39)	unclassified	probably benign
R9292:Tmem245	UTSW	4	56,937,979 (GRCm39)	missense	probably benign	0.07
R9667:Tmem245	UTSW	4	56,947,119 (GRCm39)	missense	probably damaging	0.98
Z1189:Tmem245	UTSW	4	56,937,901 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGCACTGTTCCGTGTTAC -3'
(R):5'- TTCAGGCCTGGCATCAGATG -3'

Sequencing Primer
(F):5'- ACGTTCTGAGAGTTTGCTCCAC -3'
(R):5'- AGGCCTGGCATCAGATGTTCTC -3'

Posted On

2015-09-24