Mutagenetix > Incidental Mutations

Incidental Mutation 'R4377:BC034090'

325125

Institutional Source

Beutler Lab

Gene Symbol

BC034090

Ensembl Gene

ENSMUSG00000033722

Gene Name

cDNA sequence BC034090

Synonyms

MMRRC Submission

041676-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4377 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155212471-155244444 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155232450 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 384 (C384R)

Ref Sequence

ENSEMBL: ENSMUSP00000139623 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000035914
AA Change: C22R

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

SMART Domains

Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: C22R

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

noncoding transcript
Transcript: ENSMUST00000186082

Predicted Effect

probably benign
Transcript: ENSMUST00000186156
AA Change: C384R

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

SMART Domains

Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: C384R

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: C22R

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

SMART Domains

Protein: ENSMUSP00000140632
Gene: ENSMUSG00000033722
AA Change: C22R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192162

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	A	14: 49,770,436	T527S	probably damaging	Het
Adck5	A	G	15: 76,594,335		probably benign	Het
Arhgap22	A	G	14: 33,369,510	M681V	probably damaging	Het
Atp10d	T	C	5: 72,296,975	L189P	probably damaging	Het
C330007P06Rik	C	A	X: 36,824,159	C206F	probably benign	Het
Ccdc180	T	A	4: 45,941,877	L1380Q	probably damaging	Het
Cd209c	T	C	8: 3,954,635		noncoding transcript	Het
Cenpp	A	G	13: 49,494,431		probably benign	Het
Csf1	T	A	3: 107,756,739	T38S	probably damaging	Het
Csn1s2a	T	C	5: 87,775,821	V12A	probably benign	Het
Dapk1	A	G	13: 60,719,684	D235G	probably benign	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Frmd3	T	A	4: 74,128,298		probably null	Het
Gart	G	A	16: 91,634,094	A360V	probably benign	Het
Gm7251	T	A	13: 49,805,200		noncoding transcript	Het
Gon4l	C	A	3: 88,907,387	P1888T	probably benign	Het
Hk1	C	A	10: 62,315,540	K10N	probably damaging	Het
Itgal	A	G	7: 127,328,281	Y981C	probably benign	Het
Kcp	C	T	6: 29,493,203	C107Y	probably damaging	Het
Kdm2a	C	T	19: 4,329,054	V138M	probably benign	Het
Kit	T	C	5: 75,640,499	I515T	probably benign	Het
Kmt2c	C	T	5: 25,315,326	V1929I	probably benign	Het
Krt33a	T	C	11: 100,012,427	E263G	possibly damaging	Het
Mark2	T	C	19: 7,290,689	I50V	possibly damaging	Het
Mug2	G	T	6: 122,071,007		probably null	Het
Mvk	A	G	5: 114,452,961		probably benign	Het
Myh6	T	A	14: 54,962,108	I249F	probably damaging	Het
Naa15	T	C	3: 51,448,365	I229T	possibly damaging	Het
Napb	A	C	2: 148,732,264		probably null	Het
Ncoa3	T	G	2: 166,054,497	L440R	possibly damaging	Het
Olfr608	T	C	7: 103,470,071	S11P	probably damaging	Het
Olfr965	T	A	9: 39,719,807	F193L	probably benign	Het
Osbpl8	T	A	10: 111,269,419	I245N	possibly damaging	Het
Pdia4	G	A	6: 47,798,392	R495W	probably damaging	Het
Pfn4	T	A	12: 4,770,182	D10E	probably damaging	Het
Plekha5	T	C	6: 140,579,465	Y376H	probably damaging	Het
Pole	T	A	5: 110,337,205	I395K	possibly damaging	Het
Prcc	A	G	3: 87,867,407	Y363H	probably damaging	Het
Ptprc	A	T	1: 138,067,925	M982K	probably benign	Het
Ptpro	T	A	6: 137,380,266	F252I	probably benign	Het
Pusl1	A	G	4: 155,890,580	V188A	probably benign	Het
Rad54l2	A	G	9: 106,693,222	S1300P	probably benign	Het
Rpl11	G	A	4: 136,051,143		probably benign	Het
Rtel1	T	A	2: 181,355,796	H1104Q	probably damaging	Het
Setbp1	T	C	18: 78,859,922	R177G	probably damaging	Het
Skint6	T	C	4: 113,236,518	T143A	possibly damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562		probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Zfp583	A	G	7: 6,317,681	S111P	possibly damaging	Het
Zmiz1	T	C	14: 25,636,010	S140P	probably damaging	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
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
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
X0002:BC034090	UTSW	1	155226279	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGAAAATTGTGCATGCAC -3'
(R):5'- TAAAGCCGTCTAAGCTGTGTTG -3'

Sequencing Primer
(F):5'- CGAGCACGAGCACACAC -3'
(R):5'- AAGCTGTGTTGTTTGCTTTTAATCCC -3'

Posted On

2015-07-06