Mutagenetix > Incidental Mutation

Incidental Mutation 'R8463:BC005624'

656633

Institutional Source

Beutler Lab

Gene Symbol

BC005624

Ensembl Gene

ENSMUSG00000026851

Gene Name

cDNA sequence BC005624

Synonyms

MMRRC Submission

067907-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R8463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30862845-30872225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30871817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 19 (E19V)

Ref Sequence

ENSEMBL: ENSMUSP00000028205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028205] [ENSMUST00000061544] [ENSMUST00000102849] [ENSMUST00000138161] [ENSMUST00000142232]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028205
AA Change: E19V

PolyPhen 2 Score 0.797 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028205
Gene: ENSMUSG00000026851
AA Change: E19V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000061544

SMART Domains

Protein: ENSMUSP00000060167
Gene: ENSMUSG00000026854

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	30	95	3.2e-18	PFAM
low complexity region	128	138	N/A	INTRINSIC
Pfam:UCH	144	210	2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102849

SMART Domains

Protein: ENSMUSP00000099913
Gene: ENSMUSG00000026854

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	30	95	4.3e-17	PFAM
low complexity region	128	138	N/A	INTRINSIC
Pfam:UCH	144	684	5e-63	PFAM
Pfam:UCH_1	145	669	8.8e-24	PFAM
DUSP	704	787	5.97e-28	SMART
DUSP	812	897	4.74e-31	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138161

SMART Domains

Protein: ENSMUSP00000116696
Gene: ENSMUSG00000026854

Domain	Start	End	E-Value	Type
Pfam:zf-UBP	30	77	1.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142232

SMART Domains

Protein: ENSMUSP00000115347
Gene: ENSMUSG00000026854

Domain	Start	End	E-Value	Type
PDB:2UZG\|A	70	99	5e-8	PDB

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	T	A	9: 44,192,909 (GRCm39)	I146F	probably damaging	Het
Adcy8	G	T	15: 64,792,874 (GRCm39)	D27E	probably benign	Het
Ahnak	A	G	19: 8,986,113 (GRCm39)	I2466V	probably benign	Het
Bnc2	A	T	4: 84,211,608 (GRCm39)	F279I	probably damaging	Het
Bub1	A	T	2: 127,659,353 (GRCm39)	L335M	probably benign	Het
Cdkn1c	G	A	7: 143,014,324 (GRCm39)	H41Y	possibly damaging	Het
Celsr1	G	A	15: 85,914,415 (GRCm39)	P1186L	probably damaging	Het
Cnot2	A	G	10: 116,353,236 (GRCm39)	L75S	probably benign	Het
Cntn6	A	T	6: 104,749,580 (GRCm39)	E338D	possibly damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Dlg2	G	T	7: 91,617,441 (GRCm39)	M289I	probably benign	Het
Dzip1l	A	T	9: 99,519,875 (GRCm39)	D134V	possibly damaging	Het
Fam171b	A	G	2: 83,683,801 (GRCm39)	Y106C	probably damaging	Het
Fgd3	T	C	13: 49,420,081 (GRCm39)	K599E	possibly damaging	Het
Gabrr2	A	T	4: 33,084,375 (GRCm39)	I154F	probably damaging	Het
Gjd2	T	A	2: 113,842,053 (GRCm39)	E141D	probably benign	Het
Gmds	T	C	13: 32,003,906 (GRCm39)	N371S	probably benign	Het
Gp2	C	T	7: 119,053,554 (GRCm39)	A136T	probably damaging	Het
Gstm2	A	G	3: 107,893,672 (GRCm39)		probably null	Het
Hnmt	T	C	2: 23,938,836 (GRCm39)	M1V	probably null	Het
Hydin	T	C	8: 111,237,553 (GRCm39)	V1942A	probably benign	Het
Krt87	C	A	15: 101,332,506 (GRCm39)	A236S	probably benign	Het
Lama3	A	T	18: 12,582,896 (GRCm39)	H654L	probably damaging	Het
Lrp2	G	A	2: 69,322,250 (GRCm39)	T1893M	probably damaging	Het
Lyg1	A	T	1: 37,988,922 (GRCm39)	Y99*	probably null	Het
Mdga1	T	C	17: 30,068,703 (GRCm39)	D208G	probably damaging	Het
Mgarp	T	C	3: 51,296,348 (GRCm39)	E218G	probably damaging	Het
Mif4gd	T	A	11: 115,499,324 (GRCm39)	D186V	probably benign	Het
Mlec	T	C	5: 115,288,283 (GRCm39)	Y191C	probably damaging	Het
Mtus1	C	A	8: 41,536,271 (GRCm39)	V482L	probably benign	Het
Muc16	T	A	9: 18,570,435 (GRCm39)	T695S	unknown	Het
Muc4	A	T	16: 32,574,201 (GRCm39)	M760L	probably benign	Het
Mybl2	A	T	2: 162,916,638 (GRCm39)	S430C	probably damaging	Het
Nepn	A	G	10: 52,276,896 (GRCm39)	N211D	probably benign	Het
Nuggc	A	G	14: 65,851,011 (GRCm39)	T294A	probably damaging	Het
Or51k2	G	A	7: 103,595,834 (GRCm39)		probably null	Het
Or5w16	A	T	2: 87,577,437 (GRCm39)	E299V	probably benign	Het
Pcca	A	G	14: 122,922,526 (GRCm39)		probably null	Het
Pcdhb13	T	G	18: 37,576,287 (GRCm39)	S222A	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Plppr3	A	T	10: 79,703,397 (GRCm39)	V29E	probably damaging	Het
Plxna2	C	T	1: 194,326,354 (GRCm39)	P96L	probably damaging	Het
Pop4	A	T	7: 37,962,599 (GRCm39)	*222R	probably null	Het
Prss2	T	A	6: 41,498,739 (GRCm39)	M1K	probably null	Het
Prss3	C	A	6: 41,352,059 (GRCm39)	R68L	probably benign	Het
Recql5	G	A	11: 115,787,619 (GRCm39)	Q512*	probably null	Het
Rnf148	A	G	6: 23,654,801 (GRCm39)	I65T	probably benign	Het
Scgb1b19	G	A	7: 32,987,082 (GRCm39)	A78T	probably benign	Het
Sftpd	A	G	14: 40,897,583 (GRCm39)		probably null	Het
Shank1	A	G	7: 44,003,605 (GRCm39)	R1766G	possibly damaging	Het
Slc35e2	T	C	4: 155,694,615 (GRCm39)	L54P	probably damaging	Het
Smg6	A	G	11: 74,820,886 (GRCm39)	K386E	probably benign	Het
Sorcs1	A	G	19: 50,248,248 (GRCm39)	S393P	probably damaging	Het
Spen	A	G	4: 141,249,590 (GRCm39)	V66A	unknown	Het
Tpm1	G	T	9: 66,955,512 (GRCm39)	A45E	probably benign	Het
Trmt2a	T	C	16: 18,069,039 (GRCm39)	Y294H	probably damaging	Het
Txnl4b	T	C	8: 110,299,430 (GRCm39)	V130A	possibly damaging	Het
Vmn2r14	C	A	5: 109,369,340 (GRCm39)	V78L	probably benign	Het
Vmn2r27	A	G	6: 124,169,168 (GRCm39)	V654A	probably damaging	Het
Wee2	G	T	6: 40,420,914 (GRCm39)	M1I	probably null	Het
Xpnpep3	A	G	15: 81,332,672 (GRCm39)	K403R	probably benign	Het
Zranb1	A	G	7: 132,551,810 (GRCm39)	T154A	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
R1629:BC005624	UTSW	2	30,864,020 (GRCm39)	missense	probably damaging	1.00
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
R8488:BC005624	UTSW	2	30,871,857 (GRCm39)	missense	possibly damaging	0.83

Predicted Primers

PCR Primer
(F):5'- AGTCCCTGATCCAGTGGTCATC -3'
(R):5'- AGCATGGTTACTCGATGGGC -3'

Sequencing Primer
(F):5'- AGTGGTCATCGGCAGTCAGAC -3'
(R):5'- ACTCGATGGGCGTGGTC -3'

Posted On

2021-01-18