Mutagenetix > Incidental Mutation

Incidental Mutation 'R9787:BC034090'

734378

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: 0.062) question?

Stock #

R9787 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155088217-155120190 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155117955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 54 (E54D)

Ref Sequence

ENSEMBL: ENSMUSP00000139623 (fasta)

Gene Model

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

AlphaFold

A0A087WP46

Predicted Effect

possibly damaging
Transcript: ENSMUST00000186156
AA Change: E54D

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139623
Gene: ENSMUSG00000033722
AA Change: E54D

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,150,695 (GRCm39)	T26A	probably benign	Het
Arhgap27	A	G	11: 103,230,048 (GRCm39)	S239P	possibly damaging	Het
Bambi	T	C	18: 3,511,515 (GRCm39)	V112A	possibly damaging	Het
Cdin1	T	A	2: 115,505,236 (GRCm39)	L169Q	probably damaging	Het
Chst13	C	T	6: 90,286,074 (GRCm39)	R296H	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Ctbs	T	A	3: 146,160,109 (GRCm39)	V46E	probably damaging	Het
Cyp2b9	A	G	7: 25,900,259 (GRCm39)	I356V	probably benign	Het
Dot1l	A	G	10: 80,600,472 (GRCm39)	T40A	probably benign	Het
Dst	C	T	1: 34,219,524 (GRCm39)	T1988M	probably benign	Het
Fam184a	T	A	10: 53,626,864 (GRCm39)	D38V	possibly damaging	Het
Fank1	T	A	7: 133,463,887 (GRCm39)	F83I	probably damaging	Het
Fto	T	A	8: 92,211,886 (GRCm39)	W404R	probably damaging	Het
Gabra4	T	A	5: 71,791,004 (GRCm39)	R279S	possibly damaging	Het
Garem2	C	T	5: 30,319,219 (GRCm39)	P227L	probably damaging	Het
Gfra4	C	A	2: 130,884,600 (GRCm39)	M1I	probably null	Het
Gin1	T	A	1: 97,703,211 (GRCm39)	H11Q	probably damaging	Het
Gli3	G	A	13: 15,900,386 (GRCm39)	G1258R	probably damaging	Het
Gsx1	T	C	5: 147,126,677 (GRCm39)	S167P	probably damaging	Het
Gtf2b	AATCATC	AATC	3: 142,477,178 (GRCm39)		probably benign	Het
Il7	G	A	3: 7,641,171 (GRCm39)	R82C	probably damaging	Het
Lair1	A	T	7: 4,013,794 (GRCm39)	V151E	probably damaging	Het
Lpar1	T	C	4: 58,437,349 (GRCm39)	D360G	probably benign	Het
Malrd1	T	A	2: 15,625,401 (GRCm39)	N345K	unknown	Het
Mbnl1	T	A	3: 60,503,086 (GRCm39)	N82K	probably damaging	Het
Mtdh	C	A	15: 34,123,844 (GRCm39)	T357N	probably benign	Het
Muc6	T	A	7: 141,227,748 (GRCm39)	K1306*	probably null	Het
Nsd1	T	A	13: 55,461,518 (GRCm39)	C2685S	probably benign	Het
Optn	T	A	2: 5,036,150 (GRCm39)	Q444L	probably damaging	Het
Or6a2	A	T	7: 106,600,899 (GRCm39)	L56H	probably damaging	Het
Pan2	T	A	10: 128,144,223 (GRCm39)	D157E	probably benign	Het
Pole	G	A	5: 110,465,866 (GRCm39)		probably null	Het
Stau2	A	T	1: 16,530,595 (GRCm39)	I108N	unknown	Het
Sugp2	A	G	8: 70,695,428 (GRCm39)	K134E	probably benign	Het
Tcaf3	C	T	6: 42,574,024 (GRCm39)	V63I	probably benign	Het
Tcf7	T	A	11: 52,173,773 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tubb2b	T	C	13: 34,312,409 (GRCm39)	D128G	probably benign	Het
Umodl1	A	T	17: 31,178,324 (GRCm39)	Q100L	probably damaging	Het
Unc79	T	A	12: 103,112,620 (GRCm39)	N2230K	probably benign	Het
Zc3hav1l	T	C	6: 38,272,101 (GRCm39)	T223A	probably benign	Het
Zfhx4	G	A	3: 5,455,506 (GRCm39)	D1167N	possibly damaging	Het
Zfp36	A	T	7: 28,077,344 (GRCm39)	L200Q	probably damaging	Het
Zswim9	T	A	7: 12,994,205 (GRCm39)	L650F	probably damaging	Het

Other mutations in BC034090

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:BC034090	APN	1	155,101,193 (GRCm39)	missense	possibly damaging	0.95
IGL00159:BC034090	APN	1	155,101,197 (GRCm39)	nonsense	probably null
IGL00481:BC034090	APN	1	155,108,267 (GRCm39)	missense	probably benign	0.04
IGL01309:BC034090	APN	1	155,102,130 (GRCm39)	missense	probably damaging	0.98
IGL01813:BC034090	APN	1	155,102,085 (GRCm39)	nonsense	probably null
IGL01938:BC034090	APN	1	155,108,338 (GRCm39)	splice site	probably null
IGL01982:BC034090	APN	1	155,099,078 (GRCm39)	missense	probably damaging	1.00
IGL02115:BC034090	APN	1	155,108,397 (GRCm39)	intron	probably benign
IGL02338:BC034090	APN	1	155,093,217 (GRCm39)	missense	probably damaging	1.00
IGL02406:BC034090	APN	1	155,100,899 (GRCm39)	missense	probably benign	0.00
IGL03243:BC034090	APN	1	155,101,401 (GRCm39)	missense	possibly damaging	0.71
IGL03290:BC034090	APN	1	155,101,856 (GRCm39)	missense	probably damaging	1.00
BB004:BC034090	UTSW	1	155,117,371 (GRCm39)	nonsense	probably null
BB014:BC034090	UTSW	1	155,117,371 (GRCm39)	nonsense	probably null
R0055:BC034090	UTSW	1	155,117,404 (GRCm39)	missense	probably damaging	1.00
R1436:BC034090	UTSW	1	155,101,662 (GRCm39)	missense	probably benign	0.04
R1649:BC034090	UTSW	1	155,101,319 (GRCm39)	missense	possibly damaging	0.72
R1710:BC034090	UTSW	1	155,101,610 (GRCm39)	missense	possibly damaging	0.82
R1819:BC034090	UTSW	1	155,101,575 (GRCm39)	missense	possibly damaging	0.58
R1969:BC034090	UTSW	1	155,100,972 (GRCm39)	missense	possibly damaging	0.90
R1996:BC034090	UTSW	1	155,097,340 (GRCm39)	unclassified	probably benign
R2012:BC034090	UTSW	1	155,097,178 (GRCm39)	missense	probably damaging	0.98
R2133:BC034090	UTSW	1	155,101,532 (GRCm39)	missense	probably benign	0.27
R3426:BC034090	UTSW	1	155,117,244 (GRCm39)	missense	probably benign	0.00
R3427:BC034090	UTSW	1	155,117,244 (GRCm39)	missense	probably benign	0.00
R3428:BC034090	UTSW	1	155,117,244 (GRCm39)	missense	probably benign	0.00
R3782:BC034090	UTSW	1	155,102,024 (GRCm39)	missense	probably damaging	1.00
R3792:BC034090	UTSW	1	155,117,543 (GRCm39)	missense	probably damaging	0.98
R4234:BC034090	UTSW	1	155,117,326 (GRCm39)	missense	probably benign
R4373:BC034090	UTSW	1	155,101,904 (GRCm39)	missense	probably benign	0.22
R4377:BC034090	UTSW	1	155,108,196 (GRCm39)	missense	probably benign	0.00
R4661:BC034090	UTSW	1	155,108,221 (GRCm39)	missense	probably damaging	0.98
R4676:BC034090	UTSW	1	155,102,010 (GRCm39)	missense	possibly damaging	0.60
R4729:BC034090	UTSW	1	155,100,836 (GRCm39)	missense	probably damaging	1.00
R5170:BC034090	UTSW	1	155,089,396 (GRCm39)	missense	probably damaging	1.00
R5340:BC034090	UTSW	1	155,102,160 (GRCm39)	missense	possibly damaging	0.74
R5382:BC034090	UTSW	1	155,101,349 (GRCm39)	missense	probably benign	0.09
R5384:BC034090	UTSW	1	155,117,773 (GRCm39)	missense	possibly damaging	0.68
R5576:BC034090	UTSW	1	155,117,214 (GRCm39)	missense	probably benign	0.01
R5891:BC034090	UTSW	1	155,108,793 (GRCm39)	unclassified	probably benign
R6060:BC034090	UTSW	1	155,117,245 (GRCm39)	missense	probably benign	0.00
R6092:BC034090	UTSW	1	155,100,659 (GRCm39)	missense	probably damaging	0.99
R6662:BC034090	UTSW	1	155,102,085 (GRCm39)	missense	possibly damaging	0.92
R6736:BC034090	UTSW	1	155,117,676 (GRCm39)	missense	possibly damaging	0.92
R6903:BC034090	UTSW	1	155,097,131 (GRCm39)	missense	probably benign	0.03
R6970:BC034090	UTSW	1	155,117,185 (GRCm39)	missense	probably damaging	1.00
R7144:BC034090	UTSW	1	155,117,777 (GRCm39)	missense	probably damaging	1.00
R7201:BC034090	UTSW	1	155,117,680 (GRCm39)	missense	probably damaging	0.98
R7265:BC034090	UTSW	1	155,101,073 (GRCm39)	missense	probably damaging	0.96
R7380:BC034090	UTSW	1	155,108,229 (GRCm39)	missense	probably damaging	1.00
R7436:BC034090	UTSW	1	155,102,127 (GRCm39)	missense	probably damaging	1.00
R7569:BC034090	UTSW	1	155,093,151 (GRCm39)	missense	probably benign	0.00
R7587:BC034090	UTSW	1	155,093,232 (GRCm39)	missense	probably damaging	1.00
R7664:BC034090	UTSW	1	155,117,377 (GRCm39)	missense	probably damaging	1.00
R7737:BC034090	UTSW	1	155,117,419 (GRCm39)	missense	possibly damaging	0.66
R7782:BC034090	UTSW	1	155,108,410 (GRCm39)	intron	probably benign
R7927:BC034090	UTSW	1	155,117,371 (GRCm39)	nonsense	probably null
R8079:BC034090	UTSW	1	155,101,032 (GRCm39)	missense	probably damaging	1.00
R8204:BC034090	UTSW	1	155,117,488 (GRCm39)	missense	probably damaging	1.00
R8558:BC034090	UTSW	1	155,097,085 (GRCm39)	missense	possibly damaging	0.95
R8832:BC034090	UTSW	1	155,102,034 (GRCm39)	missense	probably damaging	1.00
R8858:BC034090	UTSW	1	155,101,964 (GRCm39)	missense	probably benign	0.17
R8879:BC034090	UTSW	1	155,102,103 (GRCm39)	missense	probably benign
R9004:BC034090	UTSW	1	155,102,138 (GRCm39)	missense	possibly damaging	0.87
R9036:BC034090	UTSW	1	155,117,419 (GRCm39)	missense	possibly damaging	0.66
R9141:BC034090	UTSW	1	155,108,474 (GRCm39)	intron	probably benign
R9293:BC034090	UTSW	1	155,101,518 (GRCm39)	missense	probably benign	0.29
R9348:BC034090	UTSW	1	155,099,049 (GRCm39)	missense	probably benign	0.00
R9440:BC034090	UTSW	1	155,101,961 (GRCm39)	missense	probably benign	0.06
R9477:BC034090	UTSW	1	155,102,087 (GRCm39)	missense	probably damaging	1.00
R9608:BC034090	UTSW	1	155,099,135 (GRCm39)	missense	possibly damaging	0.79
R9700:BC034090	UTSW	1	155,101,982 (GRCm39)	missense	probably damaging	1.00
X0002:BC034090	UTSW	1	155,102,025 (GRCm39)	nonsense	probably null
Z1187:BC034090	UTSW	1	155,117,245 (GRCm39)	missense	probably benign	0.00
Z1189:BC034090	UTSW	1	155,117,245 (GRCm39)	missense	probably benign	0.00
Z1190:BC034090	UTSW	1	155,117,245 (GRCm39)	missense	probably benign	0.00
Z1192:BC034090	UTSW	1	155,117,245 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTACTCCAGTCTTGACTTGG -3'
(R):5'- CATATCAGGGCACTGTGGAG -3'

Sequencing Primer
(F):5'- CCAGTCTTGACTTGGTGGCATTTG -3'
(R):5'- CACTGTGGAGATCAAGCAGGTTAC -3'

Posted On

2022-11-14