Mutagenetix > Incidental Mutation

Incidental Mutation 'R1689:Gc'

189562

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000035540

Gene Name

vitamin D binding protein

Synonyms

DBP, vitamin D binding protein

MMRRC Submission

039722-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1689 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

89565381-89605757 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 89589059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000046636 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049209]

AlphaFold

P21614

Predicted Effect

probably null
Transcript: ENSMUST00000049209

SMART Domains

Protein: ENSMUSP00000046636
Gene: ENSMUSG00000035540

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
ALBUMIN	17	202	6.82e-68	SMART
ALBUMIN	208	388	1.51e-51	SMART
Pfam:VitD-bind_III	405	469	7.2e-36	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for disruption of this gene show an essentially normal phenotype. However, they have an increased sensitivity to vitamin D deficiency in the diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,769,827 (GRCm39)	K896R	probably benign	Het
Adcy9	A	T	16: 4,115,426 (GRCm39)		probably null	Het
Adgre1	T	C	17: 57,756,921 (GRCm39)	F726S	probably benign	Het
Ahctf1	A	T	1: 179,595,948 (GRCm39)	S148T	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Ammecr1l	C	A	18: 31,913,741 (GRCm39)	A289D	probably benign	Het
Amotl1	T	C	9: 14,504,518 (GRCm39)	Y230C	probably damaging	Het
Armc6	A	T	8: 70,682,187 (GRCm39)	S65R	probably benign	Het
Atad2b	T	A	12: 5,084,575 (GRCm39)	Y1440*	probably null	Het
Atf6b	T	A	17: 34,869,276 (GRCm39)	D164E	probably damaging	Het
B4galt6	C	T	18: 20,839,553 (GRCm39)	S127N	probably benign	Het
Bcl11a	A	T	11: 24,113,167 (GRCm39)	Y170F	probably damaging	Het
Bcl11a	A	T	11: 24,114,406 (GRCm39)	D583V	possibly damaging	Het
Btnl1	T	A	17: 34,600,182 (GRCm39)	Y228*	probably null	Het
Cav2	A	G	6: 17,281,421 (GRCm39)	H21R	probably benign	Het
Celsr2	T	A	3: 108,314,620 (GRCm39)	D1135V	possibly damaging	Het
Cntnap1	A	C	11: 101,079,699 (GRCm39)		probably null	Het
Cysltr2	T	C	14: 73,267,470 (GRCm39)	D80G	possibly damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dgkh	A	T	14: 78,855,984 (GRCm39)	M363K	possibly damaging	Het
Eml5	C	T	12: 98,797,194 (GRCm39)	V1112M	probably damaging	Het
Entpd7	A	G	19: 43,713,915 (GRCm39)	T425A	probably damaging	Het
Ephx2	T	A	14: 66,324,475 (GRCm39)	K373*	probably null	Het
F5	G	C	1: 164,026,486 (GRCm39)	R1686P	probably damaging	Het
Fbxw10	A	T	11: 62,750,862 (GRCm39)	I482L	probably damaging	Het
Fbxw8	T	C	5: 118,215,682 (GRCm39)	S443G	probably damaging	Het
Fdft1	T	C	14: 63,394,138 (GRCm39)	E191G	probably benign	Het
Fgd2	A	G	17: 29,582,696 (GRCm39)	E26G	probably benign	Het
Gabra4	T	C	5: 71,790,885 (GRCm39)		probably null	Het
Heatr1	T	A	13: 12,439,506 (GRCm39)	D1361E	probably benign	Het
Hid1	A	G	11: 115,251,183 (GRCm39)	F118L	probably damaging	Het
Igsf8	G	T	1: 172,146,504 (GRCm39)	G564W	probably damaging	Het
Il12rb2	A	G	6: 67,313,744 (GRCm39)	V4A	probably benign	Het
Irak3	T	C	10: 119,982,457 (GRCm39)	E335G	probably damaging	Het
Itgb8	T	G	12: 119,134,555 (GRCm39)	Q504P	probably benign	Het
Kbtbd12	A	T	6: 88,595,567 (GRCm39)	Y88N	probably damaging	Het
Klk1b5	T	C	7: 43,869,969 (GRCm39)	I226T	probably damaging	Het
L3hypdh	A	T	12: 72,131,527 (GRCm39)	I135N	probably damaging	Het
Lrp2	G	T	2: 69,333,873 (GRCm39)	T1456K	probably benign	Het
Mrgprd	C	A	7: 144,875,454 (GRCm39)	Y108*	probably null	Het
Muc6	C	T	7: 141,234,265 (GRCm39)	G742D	probably damaging	Het
Nalcn	T	A	14: 123,522,666 (GRCm39)	I1572F	probably damaging	Het
Nceh1	A	G	3: 27,280,231 (GRCm39)	Y126C	probably damaging	Het
Or14j1	T	C	17: 38,146,495 (GRCm39)	S202P	possibly damaging	Het
Or1ak2	A	G	2: 36,827,989 (GRCm39)	N286S	probably damaging	Het
Or7d11	A	T	9: 19,966,422 (GRCm39)	N112K	possibly damaging	Het
Pacs1	G	T	19: 5,322,643 (GRCm39)		probably benign	Het
Pappa2	A	G	1: 158,784,968 (GRCm39)	L14P	probably damaging	Het
Pdlim2	C	T	14: 70,408,688 (GRCm39)	G176D	probably damaging	Het
Pramel17	T	A	4: 101,694,376 (GRCm39)	K169I	possibly damaging	Het
Ptpra	T	C	2: 130,345,412 (GRCm39)	F5L	probably benign	Het
Qrfprl	A	G	6: 65,358,591 (GRCm39)	N105S	possibly damaging	Het
Ralgapa1	A	G	12: 55,723,552 (GRCm39)	L2114P	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Senp2	T	A	16: 21,845,416 (GRCm39)	Y217N	probably damaging	Het
Sned1	C	T	1: 93,211,094 (GRCm39)	R1061C	probably damaging	Het
Spag16	C	T	1: 70,500,277 (GRCm39)	T535I	probably benign	Het
Supt20	T	A	3: 54,619,583 (GRCm39)	L355*	probably null	Het
Tmem132b	A	G	5: 125,864,678 (GRCm39)	H928R	possibly damaging	Het
Tpo	A	T	12: 30,148,245 (GRCm39)	L552H	probably damaging	Het
Tsfm	A	T	10: 126,864,324 (GRCm39)	N130K	probably damaging	Het
Usp48	T	A	4: 137,383,418 (GRCm39)		probably null	Het
Vsig10	A	G	5: 117,490,825 (GRCm39)	D544G	probably benign	Het
Vsig10l	C	T	7: 43,114,792 (GRCm39)	T433I	possibly damaging	Het
Wdr81	A	G	11: 75,336,422 (GRCm39)	F1655L	probably damaging	Het
Wfdc3	T	A	2: 164,576,111 (GRCm39)	D60V	probably damaging	Het

Other mutations in Gc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01963:Gc	APN	5	89,569,981 (GRCm39)	splice site	probably benign
IGL02408:Gc	APN	5	89,593,255 (GRCm39)	missense	probably benign
IGL02815:Gc	APN	5	89,605,518 (GRCm39)	critical splice donor site	probably null
R2067:Gc	UTSW	5	89,594,376 (GRCm39)	missense	probably damaging	1.00
R2086:Gc	UTSW	5	89,586,201 (GRCm39)	missense	probably damaging	1.00
R4212:Gc	UTSW	5	89,583,434 (GRCm39)	missense	probably benign	0.01
R4459:Gc	UTSW	5	89,589,146 (GRCm39)	missense	probably benign	0.00
R4930:Gc	UTSW	5	89,587,448 (GRCm39)	missense	probably benign	0.00
R5598:Gc	UTSW	5	89,586,309 (GRCm39)	critical splice acceptor site	probably null
R5768:Gc	UTSW	5	89,589,125 (GRCm39)	missense	probably damaging	1.00
R6194:Gc	UTSW	5	89,589,438 (GRCm39)	missense	probably benign	0.27
R6748:Gc	UTSW	5	89,583,431 (GRCm39)	missense	probably benign	0.00
R8376:Gc	UTSW	5	89,586,118 (GRCm39)	nonsense	probably null
R8743:Gc	UTSW	5	89,591,311 (GRCm39)	missense	probably benign
R8984:Gc	UTSW	5	89,589,421 (GRCm39)	critical splice donor site	probably null
R9102:Gc	UTSW	5	89,591,444 (GRCm39)	missense	probably benign	0.05
R9114:Gc	UTSW	5	89,593,165 (GRCm39)	missense	possibly damaging	0.76
R9200:Gc	UTSW	5	89,593,236 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCCTTGGAGTAAATCCCTGGACAC -3'
(R):5'- GTCACAGCGATGTAAAGCTGCTTG -3'

Sequencing Primer
(F):5'- GGAGTAAATCCCTGGACACTAACAC -3'
(R):5'- TGCTTGTGTGCACTCTATCC -3'

Posted On

2014-05-14