Mutagenetix > Incidental Mutations

Incidental Mutation 'R7569:BC034090'

585615

Institutional Source

Beutler Lab

Gene Symbol

BC034090

Ensembl Gene

ENSMUSG00000033722

Gene Name

cDNA sequence BC034090

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R7569 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155212471-155244444 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155217405 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 769 (H769L)

Ref Sequence

ENSEMBL: ENSMUSP00000037456 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000035914
AA Change: H769L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000037456
Gene: ENSMUSG00000033722
AA Change: H769L

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: H1131L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: H1131L

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

Coding Region Coverage

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

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
9330182O14Rik	A	T	15: 40,144,948	T73S	unknown	Het
Acvrl1	A	G	15: 101,135,755	Q106R	probably benign	Het
Adgb	A	T	10: 10,431,252	D329E	probably benign	Het
Ankrd12	A	T	17: 65,982,905	D1844E	probably damaging	Het
Ankub1	G	A	3: 57,665,618	R228*	probably null	Het
Apol6	A	C	15: 77,050,698		probably benign	Het
Ascc2	G	A	11: 4,679,506	V618M	probably damaging	Het
Asic3	A	G	5: 24,414,048	T113A	probably benign	Het
Bcl11a	G	T	11: 24,085,458	E65*	probably null	Het
Birc6	G	T	17: 74,598,082	R1290L	possibly damaging	Het
C6	A	G	15: 4,789,581	E465G	probably benign	Het
Cav2	T	A	6: 17,282,079	I112N	probably damaging	Het
Cep131	G	A	11: 120,066,713	A848V	probably damaging	Het
Col8a1	T	A	16: 57,627,192	I652F	unknown	Het
Cul4a	A	G	8: 13,123,493	N180S	probably benign	Het
Dhx38	A	G	8: 109,560,695	S214P	probably damaging	Het
Dmxl2	A	G	9: 54,415,987	V1197A	possibly damaging	Het
Dusp27	T	C	1: 166,108,035	D198G	probably damaging	Het
Dynlt1f	A	G	17: 6,655,782	S7P	not run	Het
Epha1	T	A	6: 42,365,422	T331S	possibly damaging	Het
Gm10436	A	T	12: 88,176,315	Y373N	probably benign	Het
Gm49333	T	A	16: 20,642,487	Y641*	probably null	Het
Hus1b	A	G	13: 30,946,864	Y271H	probably damaging	Het
Kmt2b	A	G	7: 30,569,553	V2610A	possibly damaging	Het
Lama2	A	G	10: 27,265,050	L651P	probably damaging	Het
Lgr5	T	C	10: 115,462,756	Y361C	probably damaging	Het
Map1s	T	C	8: 70,913,498	V349A	probably benign	Het
Map3k6	A	G	4: 133,250,077	R912G	probably benign	Het
Marc2	A	T	1: 184,841,425	F92Y	possibly damaging	Het
Nampt	T	A	12: 32,850,434	H459Q	probably benign	Het
Nlrp1a	T	C	11: 71,109,043	M817V	probably benign	Het
Npsr1	A	G	9: 24,313,730	R345G	probably benign	Het
Nuak2	G	A	1: 132,316,281	A18T	possibly damaging	Het
Olfr1428	T	C	19: 12,109,021	D175G	possibly damaging	Het
Olfr993	A	G	2: 85,414,135	V248A	probably damaging	Het
Ppp4r3b	T	C	11: 29,188,540	F296S	possibly damaging	Het
Pycr2	T	C	1: 180,904,518	F19L	probably benign	Het
Robo2	T	A	16: 74,035,115	T226S	possibly damaging	Het
Rock1	A	T	18: 10,140,194	N132K	probably damaging	Het
Rp1	A	T	1: 4,284,840	L379Q	unknown	Het
Sema6d	A	G	2: 124,657,972	I323V	possibly damaging	Het
Slc12a4	A	G	8: 105,945,847	I814T	probably damaging	Het
Slc18a2	G	A	19: 59,284,152	G352R	probably damaging	Het
Slc39a14	T	C	14: 70,309,827	T357A	possibly damaging	Het
Smarcad1	T	A	6: 65,052,711	D94E	probably benign	Het
Sorcs2	A	G	5: 36,025,876	Y1018H	probably benign	Het
Srebf1	G	T	11: 60,200,121	T1069K	possibly damaging	Het
St3gal3	A	G	4: 117,964,356	V123A	probably benign	Het
Stradb	A	G	1: 58,991,151	Y188C	unknown	Het
Sult2a2	T	C	7: 13,779,505	F186L	probably benign	Het
Syne2	A	G	12: 75,927,390	T1120A	probably benign	Het
Taok1	A	T	11: 77,555,614	S430T	probably benign	Het
Tmem62	A	T	2: 121,006,930	I573L	probably benign	Het
Trav9-1	T	C	14: 53,488,124	S7P	probably benign	Het
U2af1l4	A	T	7: 30,563,557	I24F	probably damaging	Het
Usp33	T	A	3: 152,391,665	I840N	probably damaging	Het
Vmn2r74	A	C	7: 85,952,336	I698S	probably damaging	Het
Zfp352	C	T	4: 90,223,659	P12L	possibly damaging	Het
Zfp507	T	A	7: 35,794,544	E358V	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
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
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
X0002:BC034090	UTSW	1	155226279	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGGAGTCAAATCGGCCAG -3'
(R):5'- GGCTGTGATACCTAACCCTACC -3'

Sequencing Primer
(F):5'- GAGTCAAATCGGCCAGCTCTAC -3'
(R):5'- GTGATACCTAACCCTACCGTTACTG -3'

Posted On

2019-10-17