Mutagenetix > Incidental Mutation

Incidental Mutation 'R8879:BC034090'

676739

Institutional Source

Beutler Lab

Gene Symbol

BC034090

Ensembl Gene

ENSMUSG00000033722

Gene Name

cDNA sequence BC034090

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8879 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155212471-155244444 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155226357 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 54 (I54V)

Ref Sequence

ENSEMBL: ENSMUSP00000037456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035914] [ENSMUST00000186156] [ENSMUST00000187096]

AlphaFold

A0A087WP46

Predicted Effect

probably benign
Transcript: ENSMUST00000035914
AA Change: I54V

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

SMART Domains

Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: I54V

Domain	Start	End	E-Value	Type
low complexity region	18	32	N/A	INTRINSIC
Pfam:DUF4685	44	168	6.6e-57	PFAM
low complexity region	486	500	N/A	INTRINSIC
low complexity region	562	568	N/A	INTRINSIC
low complexity region	640	652	N/A	INTRINSIC
PDZ	830	905	4.8e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186156
AA Change: I416V

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

SMART Domains

Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: I416V

Domain	Start	End	E-Value	Type
low complexity region	446	463	N/A	INTRINSIC
low complexity region	779	793	N/A	INTRINSIC
low complexity region	855	861	N/A	INTRINSIC
low complexity region	933	945	N/A	INTRINSIC
PDZ	1123	1198	2.2e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187096
AA Change: I54V

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

SMART Domains

Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722
AA Change: I54V

Domain	Start	End	E-Value	Type
low complexity region	84	101	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	T	15: 58,022,509	V326M	probably damaging	Het
Adap2	T	A	11: 80,156,959	H80Q	probably benign	Het
Ang4	T	C	14: 51,764,486	T2A	probably benign	Het
Arf2	T	C	11: 103,979,759		probably null	Het
B3gnt4	A	G	5: 123,511,148	D192G	probably damaging	Het
Catsper3	A	G	13: 55,804,895	T202A	probably benign	Het
Cenpe	T	A	3: 135,260,101	D2113E	probably damaging	Het
Clasp2	T	C	9: 113,773,705	V191A	probably benign	Het
Col5a1	G	T	2: 28,014,158	A1356S	unknown	Het
Cuzd1	A	G	7: 131,308,848	S573P	probably damaging	Het
Cyp1a2	C	A	9: 57,681,885	M215I	possibly damaging	Het
Dcaf17	T	A	2: 71,063,402	I122K	possibly damaging	Het
Dhcr24	A	G	4: 106,573,809	I232V	probably benign	Het
Dnah10	A	G	5: 124,818,117	E3570G	probably damaging	Het
Dnaja4	A	T	9: 54,714,704		probably benign	Het
Ehd1	A	G	19: 6,298,324	D444G	probably damaging	Het
Ehmt1	T	A	2: 24,836,476	M766L	possibly damaging	Het
Eno4	A	G	19: 58,970,722	I613M	probably benign	Het
Exoc3l	A	T	8: 105,290,549	M602K		Het
Fam107a	C	T	14: 8,301,352		probably null	Het
Frem3	A	T	8: 80,613,148	D690V	probably damaging	Het
Gm11639	T	C	11: 104,690,955	I41T	probably benign	Het
Gm19410	A	T	8: 35,771,868	D97V	probably damaging	Het
Grik5	T	A	7: 25,023,064	D540V	possibly damaging	Het
Hint1	T	A	11: 54,869,943	D69E	probably benign	Het
Krt13	T	C	11: 100,119,385	T257A	probably benign	Het
Lpin2	T	C	17: 71,242,754	L676P	probably damaging	Het
Lrguk	A	G	6: 34,029,683	E76G	probably benign	Het
Lrrc8a	A	G	2: 30,256,298	M375V	probably benign	Het
Lrrtm3	T	C	10: 64,089,238	Q50R	possibly damaging	Het
Mmrn1	T	A	6: 60,976,529	L598Q	probably damaging	Het
Mrs2	A	G	13: 25,001,784	I135T	probably damaging	Het
Neb	T	C	2: 52,235,580	D475G		Het
Notch2	A	G	3: 98,135,599	S1427G	possibly damaging	Het
Olfr118	C	A	17: 37,672,411	Y129*	probably null	Het
Olfr682-ps1	A	G	7: 105,126,686	V195A	probably benign	Het
Olfr694	A	T	7: 106,689,089	I214N	probably damaging	Het
Olfr816	A	G	10: 129,911,862	C139R	probably damaging	Het
Olfr952	A	C	9: 39,426,219	V284G	possibly damaging	Het
Opcml	T	C	9: 28,902,151	F246S	probably damaging	Het
Pdzd2	C	A	15: 12,402,319	V729F	probably damaging	Het
Pias2	C	T	18: 77,146,768	Q565*	probably null	Het
Pnp	T	A	14: 50,950,720		probably null	Het
Ptpn18	T	C	1: 34,463,130	S76P	probably benign	Het
Qtrt2	A	T	16: 43,863,197	L304Q	probably damaging	Het
Rad51ap2	A	T	12: 11,457,400	E441V	possibly damaging	Het
Ranbp2	T	A	10: 58,477,889	V1477E	probably benign	Het
Repin1	C	T	6: 48,597,433	T432I	possibly damaging	Het
Rest	G	A	5: 77,282,511	G926R	probably benign	Het
Rnft1	T	A	11: 86,486,690	F143L	possibly damaging	Het
Sema3e	A	T	5: 14,232,094	I415L	probably benign	Het
Slc10a1	T	A	12: 80,967,595	N117I	probably damaging	Het
Slc25a23	G	A	17: 57,059,709		probably benign	Het
Slc2a2	T	C	3: 28,713,802	S160P	possibly damaging	Het
Srrd	A	G	5: 112,338,456	V178A	possibly damaging	Het
Tmigd3	G	T	3: 105,921,961	G198C	probably benign	Het
Trbv29	G	A	6: 41,271,405	M1I	probably null	Het
Tril	A	G	6: 53,819,584	S218P	probably damaging	Het
Trip11	T	C	12: 101,862,598	K1749R	probably benign	Het
Ttc25	G	T	11: 100,566,926	E452*	probably null	Het
Ttn	A	G	2: 76,830,651	V12011A		Het
Ubr4	T	G	4: 139,410,518	F1093V	probably benign	Het
Urb2	C	A	8: 124,028,403	A283E	probably benign	Het
Usp43	T	A	11: 67,898,881		probably benign	Het
Vmn1r28	A	T	6: 58,265,684	I171F	probably benign	Het
Vps33a	G	A	5: 123,533,899	R469W	probably damaging	Het
Zfp202	G	A	9: 40,211,757	R605Q	probably damaging	Het
Zpbp2	A	T	11: 98,554,620	H158L	probably benign	Het

Other mutations in BC034090

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:BC034090	APN	1	155225447	missense	possibly damaging	0.95
IGL00159:BC034090	APN	1	155225451	nonsense	probably null
IGL00481:BC034090	APN	1	155232521	missense	probably benign	0.04
IGL01309:BC034090	APN	1	155226384	missense	probably damaging	0.98
IGL01813:BC034090	APN	1	155226339	nonsense	probably null
IGL01938:BC034090	APN	1	155232592	splice site	probably null
IGL01982:BC034090	APN	1	155223332	missense	probably damaging	1.00
IGL02115:BC034090	APN	1	155232651	intron	probably benign
IGL02338:BC034090	APN	1	155217471	missense	probably damaging	1.00
IGL02406:BC034090	APN	1	155225153	missense	probably benign	0.00
IGL03243:BC034090	APN	1	155225655	missense	possibly damaging	0.71
IGL03290:BC034090	APN	1	155226110	missense	probably damaging	1.00
BB004:BC034090	UTSW	1	155241625	nonsense	probably null
BB014:BC034090	UTSW	1	155241625	nonsense	probably null
R0055:BC034090	UTSW	1	155241658	missense	probably damaging	1.00
R1436:BC034090	UTSW	1	155225916	missense	probably benign	0.04
R1649:BC034090	UTSW	1	155225573	missense	possibly damaging	0.72
R1710:BC034090	UTSW	1	155225864	missense	possibly damaging	0.82
R1819:BC034090	UTSW	1	155225829	missense	possibly damaging	0.58
R1969:BC034090	UTSW	1	155225226	missense	possibly damaging	0.90
R1996:BC034090	UTSW	1	155221594	unclassified	probably benign
R2012:BC034090	UTSW	1	155221432	missense	probably damaging	0.98
R2133:BC034090	UTSW	1	155225786	missense	probably benign	0.27
R3426:BC034090	UTSW	1	155241498	missense	probably benign	0.00
R3427:BC034090	UTSW	1	155241498	missense	probably benign	0.00
R3428:BC034090	UTSW	1	155241498	missense	probably benign	0.00
R3782:BC034090	UTSW	1	155226278	missense	probably damaging	1.00
R3792:BC034090	UTSW	1	155241797	missense	probably damaging	0.98
R4234:BC034090	UTSW	1	155241580	missense	probably benign
R4373:BC034090	UTSW	1	155226158	missense	probably benign	0.22
R4377:BC034090	UTSW	1	155232450	missense	probably benign	0.00
R4661:BC034090	UTSW	1	155232475	missense	probably damaging	0.98
R4676:BC034090	UTSW	1	155226264	missense	possibly damaging	0.60
R4729:BC034090	UTSW	1	155225090	missense	probably damaging	1.00
R5170:BC034090	UTSW	1	155213650	missense	probably damaging	1.00
R5340:BC034090	UTSW	1	155226414	missense	possibly damaging	0.74
R5382:BC034090	UTSW	1	155225603	missense	probably benign	0.09
R5384:BC034090	UTSW	1	155242027	missense	possibly damaging	0.68
R5576:BC034090	UTSW	1	155241468	missense	probably benign	0.01
R5891:BC034090	UTSW	1	155233047	unclassified	probably benign
R6060:BC034090	UTSW	1	155241499	missense	probably benign	0.00
R6092:BC034090	UTSW	1	155224913	missense	probably damaging	0.99
R6662:BC034090	UTSW	1	155226339	missense	possibly damaging	0.92
R6736:BC034090	UTSW	1	155241930	missense	possibly damaging	0.92
R6903:BC034090	UTSW	1	155221385	missense	probably benign	0.03
R6970:BC034090	UTSW	1	155241439	missense	probably damaging	1.00
R7144:BC034090	UTSW	1	155242031	missense	probably damaging	1.00
R7201:BC034090	UTSW	1	155241934	missense	probably damaging	0.98
R7265:BC034090	UTSW	1	155225327	missense	probably damaging	0.96
R7380:BC034090	UTSW	1	155232483	missense	probably damaging	1.00
R7436:BC034090	UTSW	1	155226381	missense	probably damaging	1.00
R7569:BC034090	UTSW	1	155217405	missense	probably benign	0.00
R7587:BC034090	UTSW	1	155217486	missense	probably damaging	1.00
R7664:BC034090	UTSW	1	155241631	missense	probably damaging	1.00
R7737:BC034090	UTSW	1	155241673	missense	possibly damaging	0.66
R7782:BC034090	UTSW	1	155232664	intron	probably benign
R7927:BC034090	UTSW	1	155241625	nonsense	probably null
R8079:BC034090	UTSW	1	155225286	missense	probably damaging	1.00
R8204:BC034090	UTSW	1	155241742	missense	probably damaging	1.00
R8558:BC034090	UTSW	1	155221339	missense	possibly damaging	0.95
R8832:BC034090	UTSW	1	155226288	missense	probably damaging	1.00
R8858:BC034090	UTSW	1	155226218	missense	probably benign	0.17
R9004:BC034090	UTSW	1	155226392	missense	possibly damaging	0.87
R9036:BC034090	UTSW	1	155241673	missense	possibly damaging	0.66
R9141:BC034090	UTSW	1	155232728	intron	probably benign
R9293:BC034090	UTSW	1	155225772	missense	probably benign	0.29
R9348:BC034090	UTSW	1	155223303	missense	probably benign	0.00
R9440:BC034090	UTSW	1	155226215	missense	probably benign	0.06
R9477:BC034090	UTSW	1	155226341	missense	probably damaging	1.00
R9608:BC034090	UTSW	1	155223389	missense	possibly damaging	0.79
R9700:BC034090	UTSW	1	155226236	missense	probably damaging	1.00
R9787:BC034090	UTSW	1	155242209	missense	possibly damaging	0.95
X0002:BC034090	UTSW	1	155226279	nonsense	probably null
Z1187:BC034090	UTSW	1	155241499	missense	probably benign	0.00
Z1189:BC034090	UTSW	1	155241499	missense	probably benign	0.00
Z1190:BC034090	UTSW	1	155241499	missense	probably benign	0.00
Z1192:BC034090	UTSW	1	155241499	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAGAGGTCCTTGGTCCACAG -3'
(R):5'- AACCTTGTGGATTGTTGGTACC -3'

Sequencing Primer
(F):5'- TGGGCAGACTCATCTTCA -3'
(R):5'- ATTGTTGGTACCGTCAGGCAC -3'

Posted On

2021-07-15