Mutagenetix > Incidental Mutation

Incidental Mutation 'R1629:BC005624'

172656

Institutional Source

Beutler Lab

Gene Symbol

BC005624

Ensembl Gene

ENSMUSG00000026851

Gene Name

cDNA sequence BC005624

Synonyms

MMRRC Submission

039666-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R1629 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30862845-30872225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30864020 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 191 (E191G)

Ref Sequence

ENSEMBL: ENSMUSP00000028205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028205]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000028205
AA Change: E191G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000028205
Gene: ENSMUSG00000026851
AA Change: E191G

Domain	Start	End	E-Value	Type
coiled coil region	10	37	N/A	INTRINSIC
Pfam:Hep_59	101	197	3e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152007

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	C	18: 59,087,691 (GRCm39)	I574L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Cbx2	A	G	11: 118,919,806 (GRCm39)	D457G	probably damaging	Het
Ccdc110	A	G	8: 46,395,164 (GRCm39)	K352E	probably benign	Het
Cdk14	A	T	5: 5,153,807 (GRCm39)	H183Q	probably benign	Het
Cfap58	A	G	19: 47,929,778 (GRCm39)	T80A	probably benign	Het
Cftr	C	T	6: 18,226,105 (GRCm39)	T351I	probably damaging	Het
Col27a1	A	G	4: 63,248,100 (GRCm39)		probably benign	Het
Cp	T	A	3: 20,020,614 (GRCm39)		probably null	Het
Cpne8	A	T	15: 90,456,175 (GRCm39)	V196E	probably benign	Het
Dmxl1	T	G	18: 49,992,353 (GRCm39)		probably null	Het
Dnm2	T	A	9: 21,415,754 (GRCm39)	L642Q	probably damaging	Het
Dock2	G	T	11: 34,212,480 (GRCm39)		probably null	Het
Dock9	A	G	14: 121,780,986 (GRCm39)	F2091L	possibly damaging	Het
Eaf2	A	G	16: 36,645,063 (GRCm39)	V53A	probably damaging	Het
Fbl	G	T	7: 27,874,212 (GRCm39)		probably benign	Het
Fbn2	T	C	18: 58,159,610 (GRCm39)	D2373G	probably damaging	Het
Gbp2b	A	G	3: 142,316,735 (GRCm39)	Y462C	possibly damaging	Het
Il1rl2	T	A	1: 40,396,020 (GRCm39)	F348I	probably benign	Het
Khdc1a	T	A	1: 21,421,121 (GRCm39)	I102N	possibly damaging	Het
Klhl11	T	C	11: 100,355,012 (GRCm39)	T270A	probably benign	Het
Lama1	T	C	17: 68,112,423 (GRCm39)	S2288P	probably benign	Het
Lrfn4	T	C	19: 4,663,523 (GRCm39)	E337G	possibly damaging	Het
Macf1	C	A	4: 123,402,208 (GRCm39)	E549*	probably null	Het
Mmp3	G	T	9: 7,447,641 (GRCm39)	V209F	probably benign	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Myh9	G	A	15: 77,648,601 (GRCm39)	R1725W	probably damaging	Het
Nbea	A	T	3: 55,910,312 (GRCm39)	D1294E	possibly damaging	Het
Nrcam	G	A	12: 44,610,769 (GRCm39)	A496T	probably benign	Het
Nufip2	A	G	11: 77,583,834 (GRCm39)	T583A	probably benign	Het
Or5m3b	A	G	2: 85,871,766 (GRCm39)	T36A	probably damaging	Het
Ppig	C	A	2: 69,566,217 (GRCm39)	T128K	probably damaging	Het
Ppp2r2a	A	T	14: 67,257,208 (GRCm39)	C341S	possibly damaging	Het
Ptpre	A	T	7: 135,271,528 (GRCm39)	D374V	probably damaging	Het
Ranbp3l	A	C	15: 9,065,068 (GRCm39)	Q485P	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Slc1a7	A	G	4: 107,865,340 (GRCm39)	Y276C	probably damaging	Het
Smarcad1	A	G	6: 65,044,091 (GRCm39)	D221G	probably benign	Het
Smn1	C	A	13: 100,264,404 (GRCm39)	T45N	probably damaging	Het
Son	T	C	16: 91,454,510 (GRCm39)	S1086P	probably damaging	Het
Ssmem1	T	A	6: 30,512,491 (GRCm39)	Y45N	possibly damaging	Het
Tasor2	T	C	13: 3,624,121 (GRCm39)	H1943R	possibly damaging	Het
Tmem184c	A	C	8: 78,329,551 (GRCm39)	F170V	possibly damaging	Het
Tmem184c	A	T	8: 78,332,791 (GRCm39)		probably null	Het
Vmn1r59	C	T	7: 5,457,466 (GRCm39)	C98Y	probably damaging	Het
Vmn2r23	T	A	6: 123,690,386 (GRCm39)	S421T	probably benign	Het
Vmn2r98	T	C	17: 19,287,645 (GRCm39)	S493P	possibly damaging	Het

Other mutations in BC005624

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02063:BC005624	APN	2	30,868,946 (GRCm39)	missense	probably benign	0.37
IGL02350:BC005624	APN	2	30,863,779 (GRCm39)	missense	probably benign	0.22
IGL02357:BC005624	APN	2	30,863,779 (GRCm39)	missense	probably benign	0.22
IGL02887:BC005624	APN	2	30,863,317 (GRCm39)	splice site	probably benign
R0401:BC005624	UTSW	2	30,870,021 (GRCm39)	missense	probably benign	0.12
R0732:BC005624	UTSW	2	30,863,949 (GRCm39)	missense	possibly damaging	0.87
R1706:BC005624	UTSW	2	30,868,922 (GRCm39)	missense	possibly damaging	0.63
R1712:BC005624	UTSW	2	30,864,020 (GRCm39)	missense	probably damaging	1.00
R5840:BC005624	UTSW	2	30,871,869 (GRCm39)	missense	probably benign	0.01
R5844:BC005624	UTSW	2	30,866,023 (GRCm39)	missense	probably benign	0.02
R6932:BC005624	UTSW	2	30,868,940 (GRCm39)	missense	possibly damaging	0.76
R7836:BC005624	UTSW	2	30,864,032 (GRCm39)	missense	probably damaging	1.00
R8032:BC005624	UTSW	2	30,865,901 (GRCm39)	critical splice donor site	probably null
R8333:BC005624	UTSW	2	30,863,748 (GRCm39)	missense	probably benign	0.00
R8463:BC005624	UTSW	2	30,871,817 (GRCm39)	missense	possibly damaging	0.80
R8488:BC005624	UTSW	2	30,871,857 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- TGTGTCACCCACTCTCAAGGGC -3'
(R):5'- TGAAGCAGGCTGGGGCACTGTA -3'

Sequencing Primer
(F):5'- TCCTCGTGATAAACTGAACAGAG -3'
(R):5'- GGGCACTGTAGAGTGCTG -3'

Posted On

2014-04-24