Mutagenetix > Incidental Mutations

Incidental Mutation 'R6683:BC028528'

527569

Institutional Source

Beutler Lab

Gene Symbol

BC028528

Ensembl Gene

ENSMUSG00000038543

Gene Name

cDNA sequence BC028528

Synonyms

L259

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R6683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

95883954-95892005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 95888227 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 88 (T88A)

Ref Sequence

ENSEMBL: ENSMUSP00000127666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036360] [ENSMUST00000090476] [ENSMUST00000171519]

Predicted Effect

probably damaging
Transcript: ENSMUST00000036360
AA Change: T88A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000046810
Gene: ENSMUSG00000038543
AA Change: T88A

Domain	Start	End	E-Value	Type
Pfam:DUF4634	1	145	3.6e-64	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000090476
AA Change: T88A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102749
Gene: ENSMUSG00000038543
AA Change: T88A

Domain	Start	End	E-Value	Type
Pfam:DUF4634	1	146	1.8e-65	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120398

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142433

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145949

Predicted Effect

probably damaging
Transcript: ENSMUST00000171519
AA Change: T88A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000127666
Gene: ENSMUSG00000038543
AA Change: T88A

Domain	Start	End	E-Value	Type
Pfam:DUF4634	1	146	1.5e-65	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	T	C	1: 74,282,445	E169G	possibly damaging	Het
Acat2	G	A	17: 12,943,927	R377C	probably benign	Het
Adgrg6	A	G	10: 14,456,167	V398A	probably damaging	Het
BC025920	A	G	10: 81,609,301	H86R	probably damaging	Het
Creb3l4	T	A	3: 90,237,805	T347S	probably benign	Het
Dhcr7	T	C	7: 143,843,311	V180A	probably damaging	Het
Fam187a	T	C	11: 102,886,189	V273A	probably damaging	Het
Hdgfl3	G	A	7: 81,900,353	R78W	possibly damaging	Het
Krt8	T	C	15: 101,998,004	T357A	probably benign	Het
Lkaaear1	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG	2: 181,697,561		probably benign	Het
Ly6d	A	T	15: 74,762,450	V97D	probably benign	Het
Map3k13	T	C	16: 21,892,312	I115T	probably benign	Het
Muc2	G	A	7: 141,751,477	V173I	probably benign	Het
Nck2	T	C	1: 43,569,178	S327P	probably benign	Het
Ncoa7	T	C	10: 30,771,721	R20G	probably damaging	Het
Nlrp4f	G	A	13: 65,199,195	T83I	probably benign	Het
Nploc4	A	G	11: 120,383,330	S546P	probably damaging	Het
Olfr1444	A	G	19: 12,862,650	S292G	probably damaging	Het
Olfr396-ps1	A	G	11: 73,928,113	Y36C	probably damaging	Het
Olfr577	C	T	7: 102,973,713	R93Q	probably benign	Het
Olfr671	C	T	7: 104,975,968	V10I	probably benign	Het
Panx1	T	C	9: 15,008,011	E184G	probably benign	Het
Parp14	T	C	16: 35,834,677	Y1808C	probably damaging	Het
Plcb1	A	T	2: 134,786,593	S21C	probably benign	Het
Ppil6	A	G	10: 41,498,431	N103D	probably benign	Het
Pth1r	C	T	9: 110,727,251		probably null	Het
Rapgef4	A	T	2: 72,054,779		probably benign	Het
Rlf	A	G	4: 121,147,926	S1286P	probably damaging	Het
Rnf217	A	G	10: 31,534,826	V291A	possibly damaging	Het
Serpina3a	T	C	12: 104,119,637	M117T	probably benign	Het
St8sia4	T	C	1: 95,653,699	D106G	probably damaging	Het
Tjp2	A	G	19: 24,120,843	I485T	probably damaging	Het
Trdc	T	C	14: 54,144,235		probably benign	Het
Ttn	A	G	2: 76,710,660	L33994P	probably damaging	Het
Vmn2r42	T	A	7: 8,184,225	K799N	probably damaging	Het
Zfp42	G	A	8: 43,296,056	T136M	possibly damaging	Het
Znhit1	A	T	5: 136,982,633	S109T	probably benign	Het

Other mutations in BC028528

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01686:BC028528	APN	3	95888900	missense	probably damaging	1.00
R0157:BC028528	UTSW	3	95884968	critical splice donor site	probably null
R0164:BC028528	UTSW	3	95887334	intron	probably benign
R0306:BC028528	UTSW	3	95889820	unclassified	probably benign
R1478:BC028528	UTSW	3	95891959	unclassified	probably null
R4204:BC028528	UTSW	3	95889745	nonsense	probably null
R4649:BC028528	UTSW	3	95888265	missense	probably damaging	0.99
R5022:BC028528	UTSW	3	95888823	intron	probably benign
R6541:BC028528	UTSW	3	95888218	missense	probably benign	0.00
R6980:BC028528	UTSW	3	95888136	small insertion	probably benign
R6980:BC028528	UTSW	3	95888139	small insertion	probably benign
R6980:BC028528	UTSW	3	95888168	small insertion	probably benign
R7058:BC028528	UTSW	3	95885011	missense	possibly damaging	0.84
R7180:BC028528	UTSW	3	95888136	small insertion	probably benign
R7308:BC028528	UTSW	3	95888136	small insertion	probably benign
R7308:BC028528	UTSW	3	95888152	small insertion	probably benign
R7308:BC028528	UTSW	3	95888169	small insertion	probably benign
R7310:BC028528	UTSW	3	95888136	small insertion	probably benign
R7310:BC028528	UTSW	3	95888139	small insertion	probably benign
R7310:BC028528	UTSW	3	95888148	small insertion	probably benign
R7310:BC028528	UTSW	3	95888173	small insertion	probably benign
R7356:BC028528	UTSW	3	95888136	small insertion	probably benign
R7356:BC028528	UTSW	3	95888141	small insertion	probably benign
R7356:BC028528	UTSW	3	95888158	small insertion	probably benign
R7356:BC028528	UTSW	3	95888165	small insertion	probably benign
R7356:BC028528	UTSW	3	95888175	small insertion	probably benign
R7356:BC028528	UTSW	3	95888183	small insertion	probably benign
R7376:BC028528	UTSW	3	95888136	small insertion	probably benign
R7430:BC028528	UTSW	3	95888136	small insertion	probably benign
R7430:BC028528	UTSW	3	95888169	small insertion	probably benign
R7490:BC028528	UTSW	3	95888136	small insertion	probably benign
R7490:BC028528	UTSW	3	95888166	small insertion	probably benign
R7490:BC028528	UTSW	3	95888186	small insertion	probably benign
R7491:BC028528	UTSW	3	95888136	small insertion	probably benign
R7491:BC028528	UTSW	3	95888138	small insertion	probably benign
R7496:BC028528	UTSW	3	95888177	small insertion	probably benign
R7497:BC028528	UTSW	3	95888136	small insertion	probably benign
R7497:BC028528	UTSW	3	95888171	small insertion	probably benign
R7498:BC028528	UTSW	3	95888136	small insertion	probably benign
R7498:BC028528	UTSW	3	95888182	small insertion	probably benign
R7552:BC028528	UTSW	3	95888169	small insertion	probably benign
R7565:BC028528	UTSW	3	95888136	small insertion	probably benign
R7565:BC028528	UTSW	3	95888138	small insertion	probably benign
R7565:BC028528	UTSW	3	95888144	small insertion	probably benign
R7566:BC028528	UTSW	3	95888136	small insertion	probably benign
R7566:BC028528	UTSW	3	95888145	small insertion	probably benign
R7568:BC028528	UTSW	3	95888136	small insertion	probably benign
R7568:BC028528	UTSW	3	95888151	small insertion	probably benign
R7568:BC028528	UTSW	3	95888172	small insertion	probably benign
R7569:BC028528	UTSW	3	95888136	small insertion	probably benign
R7580:BC028528	UTSW	3	95888136	small insertion	probably benign
R7580:BC028528	UTSW	3	95888140	small insertion	probably benign
R7635:BC028528	UTSW	3	95888136	small insertion	probably benign
R7672:BC028528	UTSW	3	95888136	small insertion	probably benign
R7672:BC028528	UTSW	3	95888143	small insertion	probably benign
R7672:BC028528	UTSW	3	95888175	small insertion	probably benign
R7685:BC028528	UTSW	3	95888136	small insertion	probably benign
R7685:BC028528	UTSW	3	95888153	small insertion	probably benign
R7685:BC028528	UTSW	3	95888156	small insertion	probably benign
R7685:BC028528	UTSW	3	95888183	nonsense	probably null
R7686:BC028528	UTSW	3	95888136	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTTTCCTGCAGGTCACGAG -3'
(R):5'- ATACTCAATCTGTACTAGCAGCAG -3'

Sequencing Primer
(F):5'- TCACGAGCCCTAGGATCTGTC -3'
(R):5'- AGACATCCCTGAGCCTGTG -3'

Posted On

2018-07-23