Mutagenetix > Incidental Mutation

Incidental Mutation 'R6692:Vpreb1a'

527927

Institutional Source

Beutler Lab

Gene Symbol

Vpreb1a

Ensembl Gene

ENSMUSG00000059305

Gene Name

V-set pre-B cell surrogate light chain 1A

Synonyms

Vpreb1, Vpreb-1, CD179a

MMRRC Submission

044810-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6692 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16686265-16687119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16686666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 75 (S75P)

Ref Sequence

ENSEMBL: ENSMUSP00000074537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023465] [ENSMUST00000075017] [ENSMUST00000100136] [ENSMUST00000232547] [ENSMUST00000232017] [ENSMUST00000232080] [ENSMUST00000232231] [ENSMUST00000232581] [ENSMUST00000231812] [ENSMUST00000232200]

AlphaFold

P13372

Predicted Effect

probably benign
Transcript: ENSMUST00000023465

SMART Domains

Protein: ENSMUSP00000023465
Gene: ENSMUSG00000022779

Domain	Start	End	E-Value	Type
TOPRIM	3	138	2.64e-27	SMART
TOP1Bc	146	242	3.84e-38	SMART
TOP1Ac	289	545	2.28e-104	SMART
low complexity region	824	850	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000075017
AA Change: S75P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074537
Gene: ENSMUSG00000059305
AA Change: S75P

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	36	117	3.96e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100136

SMART Domains

Protein: ENSMUSP00000097713
Gene: ENSMUSG00000075370

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
IGc1	126	200	2.17e-31	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231345

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231576

Predicted Effect

probably benign
Transcript: ENSMUST00000232547

Predicted Effect

probably benign
Transcript: ENSMUST00000232017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232670

Predicted Effect

probably benign
Transcript: ENSMUST00000232080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232531

Predicted Effect

probably benign
Transcript: ENSMUST00000232231

Predicted Effect

probably benign
Transcript: ENSMUST00000232581

Predicted Effect

probably benign
Transcript: ENSMUST00000231812

Predicted Effect

probably benign
Transcript: ENSMUST00000232200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232380

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (38/38)

MGI Phenotype

PHENOTYPE: Homozygous null mutants have fewer cells with functional pre-B cell receptors. Double knockouts homozygous for null mutations at Vpreb1 and Vpreb2 show impaired B-cell development. Fewer B-cells are found in bone marrow, spleen and peritoneum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl1	C	T	3: 107,582,401 (GRCm39)	G54D	probably damaging	Het
Aldh1b1	T	C	4: 45,803,427 (GRCm39)	C322R	probably damaging	Het
Cdc14b	T	C	13: 64,363,377 (GRCm39)	I258V	probably damaging	Het
Cenph	T	C	13: 100,909,243 (GRCm39)	I55V	probably benign	Het
Cep290	T	A	10: 100,405,006 (GRCm39)		probably null	Het
Ces2b	A	G	8: 105,563,919 (GRCm39)	Y431C	probably damaging	Het
Cyp4f17	T	C	17: 32,725,950 (GRCm39)	S28P	possibly damaging	Het
Cyp4f40	C	G	17: 32,894,716 (GRCm39)	T427S	possibly damaging	Het
Exoc2	A	G	13: 31,119,490 (GRCm39)	I137T	probably benign	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
G3bp1	T	A	11: 55,384,335 (GRCm39)	D168E	probably benign	Het
Impg2	T	A	16: 56,072,696 (GRCm39)	L376H	probably damaging	Het
Kdm4d	A	T	9: 14,374,361 (GRCm39)	M499K	probably benign	Het
Lonp1	C	T	17: 56,926,230 (GRCm39)	V426M	probably damaging	Het
Lypla2	C	A	4: 135,698,173 (GRCm39)	A26S	probably benign	Het
Map3k13	T	C	16: 21,723,987 (GRCm39)	V323A	possibly damaging	Het
Mdfic2	T	G	6: 98,225,169 (GRCm39)	H38P	possibly damaging	Het
Mov10	A	G	3: 104,725,360 (GRCm39)	L83P	probably damaging	Het
Mphosph9	G	T	5: 124,398,179 (GRCm39)	A1039D	probably damaging	Het
Nedd1	T	C	10: 92,534,199 (GRCm39)	K317R	possibly damaging	Het
Or10ag55-ps1	A	G	2: 87,139,336 (GRCm39)	T68A	possibly damaging	Het
Pde3a	T	A	6: 141,425,072 (GRCm39)	S623T	probably damaging	Het
Pld1	T	A	3: 28,095,348 (GRCm39)	M227K	probably benign	Het
Rell1	T	G	5: 64,095,210 (GRCm39)	K85N	probably damaging	Het
Rhbdf1	T	C	11: 32,165,652 (GRCm39)	T93A	probably damaging	Het
Sccpdh	T	A	1: 179,511,792 (GRCm39)	M88K	possibly damaging	Het
Siae	T	G	9: 37,554,095 (GRCm39)		probably null	Het
Slc22a16	G	A	10: 40,479,901 (GRCm39)	E637K	unknown	Het
Stk19	C	T	17: 35,043,770 (GRCm39)	G95S	probably benign	Het
Stpg2	G	A	3: 139,228,738 (GRCm39)		probably null	Het
Sult2a5	T	A	7: 13,358,057 (GRCm39)	F30I	probably damaging	Het
Svil	A	G	18: 5,082,853 (GRCm39)	E748G	probably damaging	Het
Swap70	T	A	7: 109,869,126 (GRCm39)	H306Q	probably benign	Het
Try10	G	A	6: 41,334,755 (GRCm39)	G227D	probably damaging	Het
Ttn	T	C	2: 76,726,713 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,749,436 (GRCm39)	H3871L	probably benign	Het
Vmn1r231	T	C	17: 21,110,745 (GRCm39)	I57V	possibly damaging	Het
Zkscan5	A	G	5: 145,157,894 (GRCm39)		probably null	Het

Other mutations in Vpreb1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Vpreb1a	APN	16	16,686,951 (GRCm39)	missense	probably benign	0.00
IGL02232:Vpreb1a	APN	16	16,686,603 (GRCm39)	missense	possibly damaging	0.95
R1824:Vpreb1a	UTSW	16	16,686,935 (GRCm39)	splice site	probably null
R1836:Vpreb1a	UTSW	16	16,686,933 (GRCm39)	missense	probably benign	0.17
R3625:Vpreb1a	UTSW	16	16,686,668 (GRCm39)	missense	probably benign	0.01
R5239:Vpreb1a	UTSW	16	16,686,592 (GRCm39)	nonsense	probably null
R5446:Vpreb1a	UTSW	16	16,686,554 (GRCm39)	missense	probably damaging	0.99
R6996:Vpreb1a	UTSW	16	16,686,678 (GRCm39)	missense	probably damaging	1.00
R7388:Vpreb1a	UTSW	16	16,686,516 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AATGTCTCCAGAGCCTAAGATCCC -3'
(R):5'- ATCTTCTCAGGTTGTGGCCC -3'

Sequencing Primer
(F):5'- GCCTAAGATCCCAAATCTGTATACG -3'
(R):5'- CTCAGCCCATGGTGCATCAG -3'

Posted On

2018-07-23