Mutagenetix > Incidental Mutation

Incidental Mutation 'R9120:BC030500'

692733

Institutional Source

Beutler Lab

Gene Symbol

BC030500

Ensembl Gene

ENSMUSG00000049946

Gene Name

cDNA sequence BC030500

Synonyms

MMRRC Submission

068923-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R9120 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59364789-59367332 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59365911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 15 (L15Q)

Ref Sequence

ENSEMBL: ENSMUSP00000131717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062978] [ENSMUST00000146513] [ENSMUST00000160055] [ENSMUST00000203398] [ENSMUST00000204128]

AlphaFold

Q8K0R8

Predicted Effect

unknown
Transcript: ENSMUST00000062978
AA Change: L15Q

SMART Domains

Protein: ENSMUSP00000131717
Gene: ENSMUSG00000049946
AA Change: L15Q

Domain	Start	End	E-Value	Type
low complexity region	48	58	N/A	INTRINSIC
low complexity region	92	101	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146513

SMART Domains

Protein: ENSMUSP00000118306
Gene: ENSMUSG00000096914

Domain	Start	End	E-Value	Type
transmembrane domain	13	30	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000160055
AA Change: L79Q

SMART Domains

Protein: ENSMUSP00000130369
Gene: ENSMUSG00000049946
AA Change: L79Q

Domain	Start	End	E-Value	Type
low complexity region	112	122	N/A	INTRINSIC
low complexity region	156	165	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203398

SMART Domains

Protein: ENSMUSP00000145298
Gene: ENSMUSG00000096914

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204128

SMART Domains

Protein: ENSMUSP00000145321
Gene: ENSMUSG00000096914

Domain	Start	End	E-Value	Type
transmembrane domain	13	31	N/A	INTRINSIC
Pfam:Glyco_tranf_2_3	140	404	2.1e-9	PFAM
Pfam:Glycos_transf_2	143	328	7.3e-33	PFAM
Pfam:Glyco_tranf_2_2	143	356	1.2e-8	PFAM
Pfam:Glyco_transf_7C	297	371	6.2e-12	PFAM
RICIN	452	585	7.9e-21	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,209,141 (GRCm39)		probably benign	Het
Adgrb2	A	G	4: 129,906,302 (GRCm39)	N910S	possibly damaging	Het
Arhgap24	A	T	5: 103,040,016 (GRCm39)	I411F	probably benign	Het
BC051665	A	G	13: 60,932,916 (GRCm39)	V15A	probably benign	Het
Bicc1	T	C	10: 70,776,862 (GRCm39)	D732G	probably damaging	Het
Bpifb1	A	G	2: 154,046,692 (GRCm39)	I71V	probably benign	Het
Btnl1	A	T	17: 34,598,681 (GRCm39)	Q99L	possibly damaging	Het
Castor1	T	A	11: 4,170,767 (GRCm39)	V196D	possibly damaging	Het
Col9a2	G	T	4: 120,900,951 (GRCm39)		probably benign	Het
D7Ertd443e	T	A	7: 133,871,986 (GRCm39)	D625V	probably damaging	Het
Dchs2	A	T	3: 83,187,535 (GRCm39)	D1327V	probably damaging	Het
Ddx1	A	G	12: 13,275,458 (GRCm39)	V543A	possibly damaging	Het
Dgkz	G	T	2: 91,768,545 (GRCm39)	D714E	probably benign	Het
Dlk1	A	G	12: 109,424,051 (GRCm39)	D105G	probably benign	Het
Fndc3a	A	G	14: 72,802,133 (GRCm39)	F557L	probably benign	Het
Gm28042	C	T	2: 119,869,462 (GRCm39)	L609F	probably damaging	Het
Gsap	A	G	5: 21,458,434 (GRCm39)	I473V	probably damaging	Het
Jag1	A	T	2: 136,930,354 (GRCm39)	M730K	probably benign	Het
Kazald1	A	T	19: 45,065,211 (GRCm39)	T31S	probably benign	Het
Ldhb	A	G	6: 142,439,935 (GRCm39)	W202R	probably damaging	Het
Lrrcc1	C	T	3: 14,615,489 (GRCm39)	Q528*	probably null	Het
Magi2	A	T	5: 20,733,305 (GRCm39)	K525I	possibly damaging	Het
Map2	A	G	1: 66,453,218 (GRCm39)	I703V	probably damaging	Het
Mdn1	A	T	4: 32,701,814 (GRCm39)	M1516L	probably damaging	Het
Mpzl2	T	A	9: 44,958,583 (GRCm39)	S186R	probably benign	Het
Mtif2	T	C	11: 29,483,951 (GRCm39)	M208T	probably benign	Het
Myo3a	T	C	2: 22,436,464 (GRCm39)	V873A	probably benign	Het
Or10ac1	A	C	6: 42,515,583 (GRCm39)	Y124*	probably null	Het
Or1j4	T	A	2: 36,740,143 (GRCm39)	Y28*	probably null	Het
Or5d38	A	G	2: 87,955,123 (GRCm39)	S69P	probably damaging	Het
Or5p6	T	C	7: 107,630,887 (GRCm39)	Y221C	probably damaging	Het
Or8g51	A	G	9: 38,608,735 (GRCm39)	F309S	probably benign	Het
Pgap4	A	G	4: 49,587,093 (GRCm39)	V25A	probably benign	Het
Plod2	G	T	9: 92,424,380 (GRCm39)		probably benign	Het
Rgs14	A	C	13: 55,528,792 (GRCm39)	D311A	probably damaging	Het
Rin1	C	A	19: 5,103,048 (GRCm39)	P446T	probably damaging	Het
Ripor3	T	C	2: 167,822,835 (GRCm39)	K909E	possibly damaging	Het
Rnf139	T	C	15: 58,771,685 (GRCm39)	L570P	probably damaging	Het
Snx17	A	G	5: 31,355,026 (GRCm39)	E347G	probably damaging	Het
Spaca1	A	G	4: 34,029,168 (GRCm39)	S220P	probably damaging	Het
Spen	G	T	4: 141,200,233 (GRCm39)	T2798K		Het
Tacc1	G	T	8: 25,659,255 (GRCm39)	S570R	probably damaging	Het
Tmem135	G	C	7: 88,797,186 (GRCm39)	L357V	probably benign	Het
Trim63	G	A	4: 134,055,003 (GRCm39)		probably benign	Het
Trmt2a	C	A	16: 18,067,722 (GRCm39)	R132S	probably damaging	Het
Ttn	T	C	2: 76,768,716 (GRCm39)	E2952G	unknown	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Vmn1r211	A	T	13: 23,035,936 (GRCm39)	F244I	probably damaging	Het
Vmn2r86	T	G	10: 130,289,677 (GRCm39)	S73R	probably benign	Het
Wdr27	A	G	17: 15,152,846 (GRCm39)	L87P	probably damaging	Het
Zfp148	A	G	16: 33,317,596 (GRCm39)	N756S	probably benign	Het
Zfp57	G	A	17: 37,320,650 (GRCm39)	R168H	probably benign	Het

Other mutations in BC030500

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01580:BC030500	APN	8	59,366,054 (GRCm39)	unclassified	probably benign
R5433:BC030500	UTSW	8	59,366,043 (GRCm39)	unclassified	probably benign
R6589:BC030500	UTSW	8	59,365,956 (GRCm39)	unclassified	probably benign
R7087:BC030500	UTSW	8	59,365,388 (GRCm39)	missense	unknown
R7252:BC030500	UTSW	8	59,364,838 (GRCm39)	critical splice donor site	probably null
R8242:BC030500	UTSW	8	59,365,388 (GRCm39)	missense	unknown
R8243:BC030500	UTSW	8	59,365,388 (GRCm39)	missense	unknown
R8350:BC030500	UTSW	8	59,365,388 (GRCm39)	missense	unknown
R8725:BC030500	UTSW	8	59,366,049 (GRCm39)	missense	unknown
R8727:BC030500	UTSW	8	59,366,049 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGCGATGATACTGGTGTCTAC -3'
(R):5'- GAGCTGTAGGTTCTGGGGAAAC -3'

Sequencing Primer
(F):5'- TGTCTACCACGTGCGGGAG -3'
(R):5'- TCAGGACCATGGAGGAAT -3'

Posted On

2021-12-30