Mutagenetix > Incidental Mutation

Incidental Mutation 'R8488:BC005624'

657830

Institutional Source

Beutler Lab

Gene Symbol

BC005624

Ensembl Gene

ENSMUSG00000026851

Gene Name

cDNA sequence BC005624

Synonyms

MMRRC Submission

067931-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

R8488 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30862845-30872225 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30871857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 6 (K6E)

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: K6E

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028205
Gene: ENSMUSG00000026851
AA Change: K6E

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg1	A	G	11: 120,238,517 (GRCm39)	V160A	possibly damaging	Het
Anapc5	A	G	5: 122,956,033 (GRCm39)	*96Q	probably null	Het
Ano2	A	G	6: 125,957,133 (GRCm39)	Y634C	probably damaging	Het
Appl2	T	C	10: 83,446,866 (GRCm39)	K406R	probably benign	Het
Arhgef15	T	A	11: 68,838,496 (GRCm39)		probably null	Het
Atp13a4	C	A	16: 29,236,654 (GRCm39)	E868D	possibly damaging	Het
Cd200l2	A	G	16: 45,348,834 (GRCm39)	Y113H	probably damaging	Het
Cenpe	T	A	3: 134,965,002 (GRCm39)	I2024N	probably damaging	Het
Clint1	T	G	11: 45,781,457 (GRCm39)	Y176D	probably damaging	Het
Crxos	T	C	7: 15,637,625 (GRCm39)	S65P	possibly damaging	Het
Cyp4f15	A	G	17: 32,920,948 (GRCm39)	T408A	probably benign	Het
Depdc1a	A	G	3: 159,229,512 (GRCm39)	M615V	probably damaging	Het
Dpysl2	T	C	14: 67,066,850 (GRCm39)	I194M	possibly damaging	Het
Dsg2	A	G	18: 20,734,431 (GRCm39)	Y803C	probably damaging	Het
Dtd2	A	G	12: 52,046,344 (GRCm39)	L165P	probably benign	Het
Gabrb2	A	T	11: 42,517,491 (GRCm39)	S438C	possibly damaging	Het
Gjb5	C	A	4: 127,250,078 (GRCm39)	R22L	probably damaging	Het
Gls	A	G	1: 52,239,012 (GRCm39)		probably null	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gstt2	T	A	10: 75,667,823 (GRCm39)	S211C	possibly damaging	Het
Hck	A	G	2: 152,966,130 (GRCm39)	K35E	probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Igsf10	C	T	3: 59,227,431 (GRCm39)	G2081R	probably damaging	Het
Lrp1	C	T	10: 127,396,356 (GRCm39)	E2403K	probably damaging	Het
Or3a1	C	T	11: 74,225,932 (GRCm39)	V42I	probably benign	Het
Or6c3b	T	A	10: 129,527,343 (GRCm39)	D189V	probably damaging	Het
Phlpp2	A	T	8: 110,640,202 (GRCm39)	M456L	probably benign	Het
Pnp2	A	G	14: 51,201,836 (GRCm39)	E274G	possibly damaging	Het
Pold3	T	C	7: 99,738,938 (GRCm39)	Y303C	probably benign	Het
Prr5	C	T	15: 84,578,005 (GRCm39)	R96C	probably damaging	Het
Repin1	A	T	6: 48,570,952 (GRCm39)	D2V	probably damaging	Het
Sec23b	T	A	2: 144,423,983 (GRCm39)	V544E	probably damaging	Het
Slc6a17	A	G	3: 107,384,574 (GRCm39)	F342S	possibly damaging	Het
Slco4c1	T	C	1: 96,759,736 (GRCm39)	N532S	probably benign	Het
Slitrk3	T	G	3: 72,958,520 (GRCm39)	Y84S	probably benign	Het
Srcin1	T	C	11: 97,416,686 (GRCm39)		probably null	Het
Syne2	C	T	12: 76,012,546 (GRCm39)	A2580V	probably benign	Het
Tex48	C	T	4: 63,530,160 (GRCm39)	E20K	probably benign	Het
Trip13	A	T	13: 74,081,032 (GRCm39)	N111K	probably benign	Het
Ugcg	T	A	4: 59,213,896 (GRCm39)	N159K	probably benign	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
R8463:BC005624	UTSW	2	30,871,817 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

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

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

Posted On

2021-01-18