Mutagenetix > Incidental Mutation

Incidental Mutation 'R4999:Creb3l1'

389696

Institutional Source

Beutler Lab

Gene Symbol

Creb3l1

Ensembl Gene

ENSMUSG00000027230

Gene Name

cAMP responsive element binding protein 3-like 1

Synonyms

BBF-2 (drosophila) homolog, Oasis

MMRRC Submission

042593-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4999 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91812673-91854515 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 91813571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 489 (D489N)

Ref Sequence

ENSEMBL: ENSMUSP00000028663 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028663]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028663
AA Change: D489N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028663
Gene: ENSMUSG00000027230
AA Change: D489N

Domain	Start	End	E-Value	Type
low complexity region	49	61	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
low complexity region	205	233	N/A	INTRINSIC
BRLZ	288	352	8.06e-19	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.7%

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 is normally found in the membrane of the endoplasmic reticulum (ER). However, upon stress to the ER, the encoded protein is cleaved and the released cytoplasmic transcription factor domain translocates to the nucleus. There it activates the transcription of target genes by binding to box-B elements. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal growth retardation, fragile skeleton, and decreased bone density, cortical and trabecular thickness, and osteoblast maturation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	A	G	1: 16,139,022 (GRCm39)		probably null	Het
Abca4	T	A	3: 121,899,019 (GRCm39)	V667D	probably damaging	Het
Aco1	A	G	4: 40,176,507 (GRCm39)	I224V	probably damaging	Het
Arel1	C	T	12: 84,978,541 (GRCm39)	V364M	probably damaging	Het
Arhgap42	A	G	9: 9,009,435 (GRCm39)	V484A	probably damaging	Het
Asap2	T	C	12: 21,302,766 (GRCm39)	F681L	probably benign	Het
Atrn	C	A	2: 130,817,874 (GRCm39)	D809E	probably damaging	Het
Ccdc70	G	A	8: 22,463,266 (GRCm39)	V19M	possibly damaging	Het
Ccp110	G	T	7: 118,329,235 (GRCm39)	E73*	probably null	Het
Cfap57	A	C	4: 118,453,045 (GRCm39)	S553A	probably benign	Het
Cftr	A	G	6: 18,221,613 (GRCm39)	K212E	probably benign	Het
Chkb	A	T	15: 89,312,368 (GRCm39)	Y216N	probably damaging	Het
Cntnap2	G	T	6: 45,897,768 (GRCm39)	D149Y	probably damaging	Het
Cpd	A	G	11: 76,737,048 (GRCm39)		probably null	Het
Crhbp	A	G	13: 95,578,753 (GRCm39)	F123L	probably damaging	Het
Cryab	T	C	9: 50,665,909 (GRCm39)	V100A	possibly damaging	Het
Csmd2	T	C	4: 128,415,723 (GRCm39)	I2684T	probably benign	Het
Ctbp2	G	T	7: 132,616,378 (GRCm39)	P186T	possibly damaging	Het
Ctnna2	T	C	6: 76,892,745 (GRCm39)	N814S	possibly damaging	Het
Dntt	T	C	19: 41,028,295 (GRCm39)	V197A	probably damaging	Het
Fam135a	G	A	1: 24,059,758 (GRCm39)	A1187V	possibly damaging	Het
Filip1l	A	T	16: 57,390,778 (GRCm39)	Q455H	probably benign	Het
Grm2	T	C	9: 106,531,189 (GRCm39)	E100G	probably damaging	Het
Gtf2ird2	G	A	5: 134,246,306 (GRCm39)	V855M	probably damaging	Het
Heatr9	A	T	11: 83,409,618 (GRCm39)	I118N	possibly damaging	Het
Htra3	T	C	5: 35,828,469 (GRCm39)	H137R	probably benign	Het
Iars1	A	G	13: 49,863,137 (GRCm39)	S530G	probably damaging	Het
Klhdc4	T	A	8: 122,523,342 (GRCm39)	M510L	probably benign	Het
Lipc	T	C	9: 70,724,013 (GRCm39)	T204A	probably benign	Het
Lrp1	A	G	10: 127,389,648 (GRCm39)	V3129A	probably damaging	Het
Macf1	G	A	4: 123,388,702 (GRCm39)	T1120I	probably benign	Het
Maco1	A	G	4: 134,555,444 (GRCm39)	I343T	probably benign	Het
Map4	T	C	9: 109,867,445 (GRCm39)		probably benign	Het
Mbtps1	A	T	8: 120,260,087 (GRCm39)	V420D	probably damaging	Het
Mta2	G	T	19: 8,927,747 (GRCm39)	D523Y	probably benign	Het
Mtcl2	C	T	2: 156,864,776 (GRCm39)	G1144D	probably benign	Het
Muc4	A	G	16: 32,576,670 (GRCm39)		probably benign	Het
Mug1	C	T	6: 121,855,902 (GRCm39)	Q965*	probably null	Het
Myo1e	T	A	9: 70,260,594 (GRCm39)	I584N	probably damaging	Het
Nolc1	T	C	19: 46,067,359 (GRCm39)	V80A	probably damaging	Het
Nop56	G	T	2: 130,117,645 (GRCm39)	V91L	probably benign	Het
Or5b99	A	T	19: 12,976,583 (GRCm39)	M78L	probably benign	Het
Or5h23	A	T	16: 58,906,765 (GRCm39)	L27Q	probably damaging	Het
Or6f2	T	C	7: 139,756,933 (GRCm39)	V300A	probably damaging	Het
Osbpl3	T	C	6: 50,313,277 (GRCm39)	E107G	probably damaging	Het
Pde3a	T	A	6: 141,195,751 (GRCm39)	C146S	probably benign	Het
Pfkm	A	G	15: 98,026,123 (GRCm39)	M573V	probably damaging	Het
Pkd1l2	C	T	8: 117,774,113 (GRCm39)		probably null	Het
Plekhg3	T	C	12: 76,612,021 (GRCm39)	I374T	possibly damaging	Het
Ppig	T	A	2: 69,571,830 (GRCm39)	V183D	unknown	Het
Prom1	T	G	5: 44,194,876 (GRCm39)	I290L	probably benign	Het
Rufy3	T	A	5: 88,785,085 (GRCm39)	M387K	probably damaging	Het
Selenoo	G	A	15: 88,978,387 (GRCm39)	R270H	probably damaging	Het
Sema3d	T	A	5: 12,558,054 (GRCm39)		probably null	Het
Sema6c	C	T	3: 95,075,674 (GRCm39)	T175I	probably damaging	Het
Serpina3k	T	C	12: 104,307,305 (GRCm39)	I179T	probably damaging	Het
Sf3b3	T	C	8: 111,567,835 (GRCm39)	T207A	probably benign	Het
Slc22a26	C	A	19: 7,779,546 (GRCm39)	R90L	probably damaging	Het
Slitrk5	T	C	14: 111,917,648 (GRCm39)	V424A	probably damaging	Het
Smarca2	G	T	19: 26,698,255 (GRCm39)	E89*	probably null	Het
Stab2	T	A	10: 86,773,773 (GRCm39)	S853C	probably damaging	Het
Stk17b	A	T	1: 53,800,306 (GRCm39)		probably null	Het
Taar5	T	A	10: 23,847,445 (GRCm39)	I281N	possibly damaging	Het
Tars3	A	T	7: 65,308,683 (GRCm39)	E284D	probably damaging	Het
Tbx15	C	A	3: 99,223,649 (GRCm39)	T279K	probably damaging	Het
Tfr2	G	A	5: 137,585,187 (GRCm39)	V740I	probably benign	Het
Tlr12	T	C	4: 128,511,473 (GRCm39)	E259G	probably benign	Het
Tmem145	A	G	7: 25,008,459 (GRCm39)	T302A	probably benign	Het
Trappc14	T	A	5: 138,259,884 (GRCm39)	T391S	probably damaging	Het
Trpa1	G	T	1: 14,946,085 (GRCm39)	H1015Q	probably benign	Het
Tspan8	A	G	10: 115,653,534 (GRCm39)	Y10C	possibly damaging	Het
Ttll7	A	G	3: 146,600,224 (GRCm39)	N44S	probably damaging	Het
Uba7	T	C	9: 107,857,038 (GRCm39)		probably null	Het
Ube2j2	G	A	4: 156,030,841 (GRCm39)	M1I	probably null	Het
Ubr5	C	A	15: 38,009,912 (GRCm39)	A1022S	probably benign	Het
Usf1	T	G	1: 171,243,331 (GRCm39)	I36S	probably damaging	Het
Vmn1r181	A	T	7: 23,683,790 (GRCm39)	D85V	probably damaging	Het
Vmn1r3	A	T	4: 3,185,009 (GRCm39)	Y99*	probably null	Het
Vmn1r72	T	C	7: 11,404,300 (GRCm39)	I49M	possibly damaging	Het
Vmn2r99	A	G	17: 19,582,397 (GRCm39)	M1V	probably null	Het
Vsig10	T	A	5: 117,482,040 (GRCm39)	V410E	probably damaging	Het
Zc3h7b	A	G	15: 81,663,334 (GRCm39)	Y442C	probably damaging	Het
Zfyve26	G	T	12: 79,327,159 (GRCm39)	Y730*	probably null	Het

Other mutations in Creb3l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01765:Creb3l1	APN	2	91,854,446 (GRCm39)	missense	possibly damaging	0.94
IGL01963:Creb3l1	APN	2	91,823,678 (GRCm39)	missense	probably benign	0.00
IGL02618:Creb3l1	APN	2	91,813,543 (GRCm39)	missense	probably benign	0.00
IGL03088:Creb3l1	APN	2	91,825,739 (GRCm39)	missense	probably benign	0.00
carver	UTSW	2	91,854,399 (GRCm39)	missense	probably benign	0.00
R0609:Creb3l1	UTSW	2	91,817,398 (GRCm39)	missense	possibly damaging	0.93
R1891:Creb3l1	UTSW	2	91,817,385 (GRCm39)	missense	probably damaging	1.00
R2298:Creb3l1	UTSW	2	91,822,321 (GRCm39)	missense	probably damaging	1.00
R2912:Creb3l1	UTSW	2	91,817,398 (GRCm39)	missense	possibly damaging	0.93
R3084:Creb3l1	UTSW	2	91,825,789 (GRCm39)	splice site	probably null
R3085:Creb3l1	UTSW	2	91,825,789 (GRCm39)	splice site	probably null
R3151:Creb3l1	UTSW	2	91,832,378 (GRCm39)	missense	probably damaging	0.96
R3945:Creb3l1	UTSW	2	91,821,556 (GRCm39)	missense	probably damaging	1.00
R4175:Creb3l1	UTSW	2	91,813,520 (GRCm39)	missense	probably benign	0.01
R4302:Creb3l1	UTSW	2	91,823,664 (GRCm39)	missense	probably damaging	1.00
R5035:Creb3l1	UTSW	2	91,817,431 (GRCm39)	missense	probably benign	0.34
R5684:Creb3l1	UTSW	2	91,821,076 (GRCm39)	missense	probably damaging	1.00
R5750:Creb3l1	UTSW	2	91,816,608 (GRCm39)	missense	possibly damaging	0.90
R5860:Creb3l1	UTSW	2	91,854,399 (GRCm39)	missense	probably benign	0.00
R6144:Creb3l1	UTSW	2	91,822,350 (GRCm39)	missense	possibly damaging	0.66
R6171:Creb3l1	UTSW	2	91,821,614 (GRCm39)	missense	probably damaging	0.99
R6239:Creb3l1	UTSW	2	91,825,748 (GRCm39)	missense	probably damaging	0.99
R8353:Creb3l1	UTSW	2	91,821,274 (GRCm39)	nonsense	probably null
R8453:Creb3l1	UTSW	2	91,821,274 (GRCm39)	nonsense	probably null
R9348:Creb3l1	UTSW	2	91,822,231 (GRCm39)	critical splice donor site	probably null
R9350:Creb3l1	UTSW	2	91,822,231 (GRCm39)	critical splice donor site	probably null
R9409:Creb3l1	UTSW	2	91,822,231 (GRCm39)	critical splice donor site	probably null
R9410:Creb3l1	UTSW	2	91,822,231 (GRCm39)	critical splice donor site	probably null
R9413:Creb3l1	UTSW	2	91,822,231 (GRCm39)	critical splice donor site	probably null
R9465:Creb3l1	UTSW	2	91,822,231 (GRCm39)	critical splice donor site	probably null
R9466:Creb3l1	UTSW	2	91,822,231 (GRCm39)	critical splice donor site	probably null
R9479:Creb3l1	UTSW	2	91,822,231 (GRCm39)	critical splice donor site	probably null
R9493:Creb3l1	UTSW	2	91,822,231 (GRCm39)	critical splice donor site	probably null
R9579:Creb3l1	UTSW	2	91,822,231 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGATCCAGGGATGAATCTGCC -3'
(R):5'- AGCCTACTGTTCTACGATGATGG -3'

Sequencing Primer
(F):5'- ATGAATCTGCCCTGGGGTAC -3'
(R):5'- TCTACGATGATGGGGCAGGC -3'

Posted On

2016-06-06