Mutagenetix > Incidental Mutation

Incidental Mutation 'R2235:BC035947'

240361

Institutional Source

Beutler Lab

Gene Symbol

BC035947

Ensembl Gene

ENSMUSG00000090486

Gene Name

cDNA sequence BC035947

Synonyms

MMRRC Submission

040236-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R2235 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78473663-78488795 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78474599 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 644 (D644E)

Ref Sequence

ENSEMBL: ENSMUSP00000132488 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170511]

AlphaFold

B2RQY6

Predicted Effect

probably damaging
Transcript: ENSMUST00000170511
AA Change: D644E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132488
Gene: ENSMUSG00000090486
AA Change: D644E

Domain	Start	End	E-Value	Type
PDB:2M9U\|A	43	87	3e-13	PDB
Pfam:TLV_coat	109	691	3.8e-147	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190853

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,619,023 (GRCm39)	V256A	probably benign	Het
Acbd6	A	G	1: 155,434,454 (GRCm39)	D24G	probably damaging	Het
Adcy2	A	T	13: 68,816,611 (GRCm39)	Y792N	probably damaging	Het
Alpk1	T	C	3: 127,474,569 (GRCm39)	K478R	probably benign	Het
Atad2b	T	G	12: 5,056,745 (GRCm39)	F867C	probably damaging	Het
Bach1	A	G	16: 87,517,001 (GRCm39)	D514G	probably damaging	Het
Chrm4	A	G	2: 91,758,875 (GRCm39)	S428G	probably benign	Het
Clca3a1	G	T	3: 144,714,829 (GRCm39)	P596Q	possibly damaging	Het
Cldn34b3	A	T	X: 75,310,830 (GRCm39)	I133F	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Crh	A	T	3: 19,748,096 (GRCm39)	M182K	probably damaging	Het
Csta1	C	T	16: 35,945,445 (GRCm39)	V23I	probably damaging	Het
Cts6	T	A	13: 61,343,247 (GRCm39)	I325F	probably damaging	Het
Dnah6	T	C	6: 73,077,068 (GRCm39)	D2347G	probably damaging	Het
Dync1i2	C	T	2: 71,079,764 (GRCm39)	Q419*	probably null	Het
E2f4	T	A	8: 106,025,283 (GRCm39)	V121E	probably damaging	Het
Fhip1a	A	T	3: 85,568,408 (GRCm39)	L1037Q	probably damaging	Het
Fndc11	A	G	2: 180,864,067 (GRCm39)	S291G	possibly damaging	Het
Hid1	A	G	11: 115,241,945 (GRCm39)	I555T	probably damaging	Het
Hyou1	C	T	9: 44,300,388 (GRCm39)	T855M	probably benign	Het
Igf1r	T	A	7: 67,861,828 (GRCm39)	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,130,062 (GRCm39)	E34G	probably damaging	Het
Itprid1	A	T	6: 55,874,797 (GRCm39)	H249L	possibly damaging	Het
Kcnab1	T	A	3: 65,226,888 (GRCm39)	V189D	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc49	A	T	9: 60,505,440 (GRCm39)	F538L	possibly damaging	Het
Ly6h	A	G	15: 75,437,038 (GRCm39)	S113P	probably benign	Het
Mto1	A	C	9: 78,364,846 (GRCm39)	T362P	possibly damaging	Het
Myot	A	G	18: 44,487,339 (GRCm39)	D392G	probably damaging	Het
Or10a3	A	G	7: 108,480,172 (GRCm39)	F214L	probably benign	Het
Or6z5	T	C	7: 6,477,441 (GRCm39)	S111P	possibly damaging	Het
Osbpl6	T	C	2: 76,417,113 (GRCm39)	F577L	probably damaging	Het
Otc	A	G	X: 10,169,606 (GRCm39)	Q216R	probably benign	Het
Pds5a	A	T	5: 65,811,441 (GRCm39)	F331I	probably damaging	Het
Pld3	G	A	7: 27,240,532 (GRCm39)	T136M	probably benign	Het
Prph2	A	T	17: 47,222,092 (GRCm39)	D157V	probably damaging	Het
Racgap1	A	G	15: 99,524,417 (GRCm39)	S357P	probably benign	Het
Ralgapa1	A	T	12: 55,763,856 (GRCm39)	H1403Q	probably benign	Het
Rnf216	G	A	5: 143,076,681 (GRCm39)	H68Y	probably benign	Het
Scgb1b27	T	C	7: 33,721,249 (GRCm39)	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,086,085 (GRCm39)	Y502C	probably damaging	Het
Sis	A	T	3: 72,820,527 (GRCm39)	F1412L	probably benign	Het
Slc4a11	T	C	2: 130,527,544 (GRCm39)	E617G	probably benign	Het
Smap1	T	C	1: 23,898,139 (GRCm39)	N99S	probably benign	Het
Smg7	A	T	1: 152,744,064 (GRCm39)	Y40N	probably damaging	Het
Sox4	C	T	13: 29,136,613 (GRCm39)	R131Q	probably damaging	Het
Spaca6	T	C	17: 18,058,507 (GRCm39)		probably null	Het
Tbx18	G	T	9: 87,606,403 (GRCm39)	S247R	probably damaging	Het
Tenm3	T	C	8: 48,729,204 (GRCm39)	I1601V	probably benign	Het
Thap4	G	T	1: 93,652,934 (GRCm39)	Q441K	probably benign	Het
Tmprss11c	G	T	5: 86,429,945 (GRCm39)	T40K	probably benign	Het
Tpr	T	A	1: 150,317,843 (GRCm39)	F2117Y	probably benign	Het
Traf5	T	C	1: 191,738,806 (GRCm39)	M125V	probably damaging	Het
Trim65	G	T	11: 116,021,503 (GRCm39)	T110K	possibly damaging	Het
Ubp1	T	G	9: 113,793,712 (GRCm39)	S340R	probably damaging	Het
Vit	T	C	17: 78,912,867 (GRCm39)	S267P	probably benign	Het
Vmn2r124	A	T	17: 18,269,927 (GRCm39)	H61L	possibly damaging	Het
Zfp990	T	A	4: 145,264,461 (GRCm39)	H486Q	probably damaging	Het
Zkscan6	T	C	11: 65,719,098 (GRCm39)	S373P	probably benign	Het

Other mutations in BC035947

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1853:BC035947	UTSW	1	78,475,653 (GRCm39)	missense	possibly damaging	0.95
R2079:BC035947	UTSW	1	78,488,561 (GRCm39)	utr 5 prime	probably benign
R2234:BC035947	UTSW	1	78,474,599 (GRCm39)	missense	probably damaging	0.98
R3840:BC035947	UTSW	1	78,474,482 (GRCm39)	missense	probably benign	0.00
R3841:BC035947	UTSW	1	78,474,482 (GRCm39)	missense	probably benign	0.00
R4804:BC035947	UTSW	1	78,474,513 (GRCm39)	missense	probably damaging	1.00
R4909:BC035947	UTSW	1	78,474,666 (GRCm39)	missense	probably damaging	0.99
R5139:BC035947	UTSW	1	78,475,884 (GRCm39)	missense	possibly damaging	0.60
R5302:BC035947	UTSW	1	78,488,599 (GRCm39)	start codon destroyed	probably null	0.00
R5669:BC035947	UTSW	1	78,474,550 (GRCm39)	missense	probably damaging	0.98
R5686:BC035947	UTSW	1	78,474,567 (GRCm39)	missense	probably benign	0.03
R5868:BC035947	UTSW	1	78,474,960 (GRCm39)	missense	probably damaging	1.00
R5988:BC035947	UTSW	1	78,475,843 (GRCm39)	nonsense	probably null
R6787:BC035947	UTSW	1	78,475,527 (GRCm39)	missense	possibly damaging	0.64
R6854:BC035947	UTSW	1	78,475,125 (GRCm39)	missense	probably damaging	1.00
R7079:BC035947	UTSW	1	78,474,552 (GRCm39)	missense	probably damaging	1.00
R7168:BC035947	UTSW	1	78,476,230 (GRCm39)	missense	probably benign	0.04
R7387:BC035947	UTSW	1	78,475,098 (GRCm39)	missense	possibly damaging	0.92
R8468:BC035947	UTSW	1	78,474,967 (GRCm39)	missense	probably damaging	0.99
R8990:BC035947	UTSW	1	78,475,486 (GRCm39)	missense	probably damaging	0.98
R9192:BC035947	UTSW	1	78,475,877 (GRCm39)	nonsense	probably null
R9786:BC035947	UTSW	1	78,488,561 (GRCm39)	utr 5 prime	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAAAATAACTGGTCCAGCTACG -3'
(R):5'- TGGTGGGCCTGTAACACAG -3'

Sequencing Primer
(F):5'- TAAAGATGTCGTCCACAGTGACCG -3'
(R):5'- CCCCCTGTGTATCAACTAAGG -3'

Posted On

2014-10-15