Mutagenetix > Incidental Mutation

Incidental Mutation 'R3625:Vpreb1a'

269390

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

040679-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R3625 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16686265-16687119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16686668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 74 (H74R)

Ref Sequence

ENSEMBL: ENSMUSP00000074537 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000075017
AA Change: H74R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000074537
Gene: ENSMUSG00000059305
AA Change: H74R

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: ENSMUST00000118424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124649

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125202

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135276

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138618

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135597

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231704

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231345

Predicted Effect

probably benign
Transcript: ENSMUST00000232017

Predicted Effect

probably benign
Transcript: ENSMUST00000232080

Predicted Effect

probably benign
Transcript: ENSMUST00000232231

Predicted Effect

probably benign
Transcript: ENSMUST00000231812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231576

Predicted Effect

probably benign
Transcript: ENSMUST00000232200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232670

Predicted Effect

probably benign
Transcript: ENSMUST00000232581

Predicted Effect

probably benign
Transcript: ENSMUST00000232547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232531

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (40/40)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	T	C	7: 143,425,591 (GRCm39)	V80A	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atg3	T	A	16: 44,995,624 (GRCm39)	I119N	probably benign	Het
Cdh12	G	C	15: 21,358,842 (GRCm39)	V89L	probably damaging	Het
Cdh3	C	A	8: 107,270,310 (GRCm39)	H396N	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dab2ip	C	A	2: 35,533,903 (GRCm39)	S43*	probably null	Het
Dmxl2	A	G	9: 54,300,927 (GRCm39)	S2394P	probably benign	Het
F13a1	T	G	13: 37,082,067 (GRCm39)	N546H	probably benign	Het
Fbn2	T	C	18: 58,194,814 (GRCm39)	N1449S	probably damaging	Het
Flywch1	T	C	17: 23,979,175 (GRCm39)		probably benign	Het
Grxcr2	T	A	18: 42,131,883 (GRCm39)	D62V	probably damaging	Het
H2bc8	T	C	13: 23,755,625 (GRCm39)		probably benign	Het
Ifnab	A	T	4: 88,609,016 (GRCm39)	I150N	probably damaging	Het
Igsf8	T	C	1: 172,145,336 (GRCm39)	V284A	probably benign	Het
Kdm1a	T	C	4: 136,288,419 (GRCm39)	E388G	possibly damaging	Het
Map3k8	G	A	18: 4,333,965 (GRCm39)	R376C	probably damaging	Het
Map6	A	T	7: 98,918,402 (GRCm39)	T189S	possibly damaging	Het
Mms22l	T	A	4: 24,505,357 (GRCm39)	S206T	probably damaging	Het
N4bp1	A	G	8: 87,578,337 (GRCm39)	L676S	probably damaging	Het
Nkx6-2	A	G	7: 139,162,106 (GRCm39)	F117S	possibly damaging	Het
Ociad2	C	T	5: 73,481,173 (GRCm39)	C72Y	probably damaging	Het
Or10w1	T	A	19: 13,632,346 (GRCm39)	C184*	probably null	Het
Or52e15	A	T	7: 104,645,191 (GRCm39)	F307I	probably benign	Het
Pcdhb6	G	T	18: 37,469,193 (GRCm39)	V21L	probably damaging	Het
Pogk	G	A	1: 166,231,081 (GRCm39)	T82I	probably damaging	Het
Pramel51	T	C	12: 88,142,731 (GRCm39)	S296G	probably benign	Het
Prkcsh	A	G	9: 21,922,548 (GRCm39)	E283G	probably null	Het
Prkd3	C	T	17: 79,292,733 (GRCm39)	R113H	probably damaging	Het
Rabgef1	T	C	5: 130,240,961 (GRCm39)		probably null	Het
Rec8	T	C	14: 55,859,954 (GRCm39)	I234T	possibly damaging	Het
Sim1	A	T	10: 50,857,432 (GRCm39)	H394L	probably benign	Het
Thy1	A	G	9: 43,958,028 (GRCm39)	E52G	probably damaging	Het
Trav14n-3	A	T	14: 53,607,543 (GRCm39)	I4F	probably damaging	Het
Trim15	T	C	17: 37,177,768 (GRCm39)	T76A	possibly damaging	Het
Ttn	A	G	2: 76,599,145 (GRCm39)	I19288T	probably damaging	Het
Vmn1r6	C	T	6: 56,979,920 (GRCm39)	T172I	probably damaging	Het
Vmn2r52	A	T	7: 9,893,105 (GRCm39)	L678Q	probably damaging	Het
Yeats4	T	C	10: 117,056,273 (GRCm39)	I100V	probably benign	Het
Zfp36	C	A	7: 28,077,681 (GRCm39)	A76S	probably benign	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
R5239:Vpreb1a	UTSW	16	16,686,592 (GRCm39)	nonsense	probably null
R5446:Vpreb1a	UTSW	16	16,686,554 (GRCm39)	missense	probably damaging	0.99
R6692:Vpreb1a	UTSW	16	16,686,666 (GRCm39)	missense	probably damaging	1.00
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'- TGTCTCCAGAGCCTAAGATCC -3'
(R):5'- ATCTTCTCAGGTTGTGGCCC -3'

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

Posted On

2015-02-19