Mutagenetix > Incidental Mutation

Incidental Mutation 'R0127:Cyp26b1'

21446

Institutional Source

Beutler Lab

Gene Symbol

Cyp26b1

Ensembl Gene

ENSMUSG00000063415

Gene Name

cytochrome P450, family 26, subfamily b, polypeptide 1

Synonyms

retinoic acid B1, CP26, P450RAI-2

MMRRC Submission

038412-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0127 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84548396-84570890 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 84554190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144836 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077705] [ENSMUST00000168003] [ENSMUST00000204109] [ENSMUST00000204146] [ENSMUST00000205228]

AlphaFold

Q811W2

Predicted Effect

probably benign
Transcript: ENSMUST00000077705

SMART Domains

Protein: ENSMUSP00000076886
Gene: ENSMUSG00000063415

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:p450	50	490	8.1e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168003

SMART Domains

Protein: ENSMUSP00000128391
Gene: ENSMUSG00000063415

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:p450	50	490	8.1e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204109

SMART Domains

Protein: ENSMUSP00000144998
Gene: ENSMUSG00000063415

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
Pfam:p450	65	415	5.8e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204146

SMART Domains

Protein: ENSMUSP00000145092
Gene: ENSMUSG00000063415

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:p450	50	490	8.1e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205228

SMART Domains

Protein: ENSMUSP00000144836
Gene: ENSMUSG00000063415

Domain	Start	End	E-Value	Type
Pfam:p450	13	299	5.9e-49	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

99% (85/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. The encoded protein is localized to the endoplasmic reticulum, and functions as a critical regulator of all-trans retinoic acid levels by the specific inactivation of all-trans retinoic acid to hydroxylated forms. Mutations in this gene are associated with radiohumeral fusions and other skeletal and craniofacial anomalies, and increased levels of the encoded protein are associated with atherosclerotic lesions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2013]
PHENOTYPE: Limb morphogenesis and proximal-distal patterning is disrupted in homozygous null fetuses. Mutant mice are born, however they die immediately after birth exhibiting respiratory distress. [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
2310061N02Rik	T	C	16: 88,504,342 (GRCm39)	T152A	probably benign	Het
Abca1	T	C	4: 53,067,155 (GRCm39)	I1351V	probably benign	Het
Acap1	A	T	11: 69,778,043 (GRCm39)		probably benign	Het
Als2cl	T	C	9: 110,720,935 (GRCm39)	L521P	probably damaging	Het
Ankrd50	T	C	3: 38,510,384 (GRCm39)	D661G	probably benign	Het
Atp6v1b2	T	A	8: 69,556,112 (GRCm39)	N262K	probably damaging	Het
Baz1a	T	A	12: 54,945,491 (GRCm39)	D1288V	possibly damaging	Het
Bbs1	A	T	19: 4,945,057 (GRCm39)	D371E	probably benign	Het
Bphl	A	G	13: 34,248,029 (GRCm39)		probably benign	Het
Caskin2	C	A	11: 115,691,820 (GRCm39)	R988S	probably damaging	Het
Cbr1	C	A	16: 93,406,875 (GRCm39)	T197N	probably damaging	Het
Ccdc88c	T	C	12: 100,901,999 (GRCm39)	E1213G	possibly damaging	Het
Ccna1	A	G	3: 54,957,169 (GRCm39)	F83L	probably damaging	Het
Cep290	T	A	10: 100,372,787 (GRCm39)		probably benign	Het
Cep89	C	A	7: 35,127,687 (GRCm39)	T543K	possibly damaging	Het
Cmtm7	T	C	9: 114,610,738 (GRCm39)	M45V	probably benign	Het
Col16a1	T	A	4: 129,946,650 (GRCm39)	V91E	probably damaging	Het
Csmd3	T	C	15: 47,845,326 (GRCm39)	N920S	probably benign	Het
Dao	T	A	5: 114,158,024 (GRCm39)	H215Q	probably damaging	Het
Dido1	T	C	2: 180,313,617 (GRCm39)	D885G	probably benign	Het
Dlx4	T	G	11: 95,032,055 (GRCm39)	M240L	probably benign	Het
Dnah5	C	T	15: 28,295,071 (GRCm39)	P1351L	probably damaging	Het
Dnah6	T	A	6: 73,015,717 (GRCm39)		probably benign	Het
Dock5	A	T	14: 68,083,491 (GRCm39)	D139E	probably benign	Het
Dynlt5	T	C	4: 102,859,649 (GRCm39)		probably benign	Het
Fam234b	T	C	6: 135,195,821 (GRCm39)		probably benign	Het
Fat2	T	C	11: 55,180,112 (GRCm39)	T1410A	probably benign	Het
Fsip2	T	A	2: 82,815,269 (GRCm39)	N3667K	probably benign	Het
Gm5114	T	C	7: 39,057,880 (GRCm39)	I580V	probably benign	Het
Hapln1	A	T	13: 89,755,988 (GRCm39)	Y264F	probably benign	Het
Heatr5a	A	G	12: 51,972,188 (GRCm39)	V694A	probably benign	Het
Hps1	A	G	19: 42,759,550 (GRCm39)		probably benign	Het
Igsf9b	G	T	9: 27,245,681 (GRCm39)	R1216L	possibly damaging	Het
Il4ra	G	T	7: 125,168,242 (GRCm39)	C87F	probably damaging	Het
Kmt5b	A	G	19: 3,836,465 (GRCm39)	M1V	probably null	Het
Krit1	A	G	5: 3,872,178 (GRCm39)	E401G	probably damaging	Het
Lamp1	T	C	8: 13,224,491 (GRCm39)	V385A	probably damaging	Het
Ly6g5b	A	G	17: 35,333,567 (GRCm39)	Y82H	probably damaging	Het
Mapre2	A	G	18: 23,937,232 (GRCm39)	I25V	probably benign	Het
Mep1a	A	G	17: 43,808,777 (GRCm39)		probably benign	Het
Mkrn1	A	G	6: 39,376,209 (GRCm39)	W466R	probably benign	Het
Muc2	C	A	7: 141,302,691 (GRCm39)	F11L	probably benign	Het
Nebl	T	A	2: 17,397,794 (GRCm39)	M501L	probably benign	Het
Oga	A	T	19: 45,760,327 (GRCm39)	I277N	probably damaging	Het
Or11g2	A	G	14: 50,855,789 (GRCm39)	I37V	probably benign	Het
Or4p18	A	G	2: 88,232,699 (GRCm39)	V193A	probably benign	Het
Or5w8	A	G	2: 87,687,827 (GRCm39)	I103V	probably benign	Het
Or8g32	A	G	9: 39,305,238 (GRCm39)	I50M	probably benign	Het
Pkd1l2	A	G	8: 117,776,787 (GRCm39)		probably benign	Het
Pkhd1l1	A	G	15: 44,418,001 (GRCm39)	M2886V	probably damaging	Het
Pop5	T	A	5: 115,378,230 (GRCm39)	L58H	probably damaging	Het
Prkch	C	A	12: 73,768,561 (GRCm39)	H444N	possibly damaging	Het
Reln	T	C	5: 22,209,134 (GRCm39)	D1148G	probably damaging	Het
Rffl	G	A	11: 82,703,458 (GRCm39)	T120M	probably damaging	Het
Rmdn2	A	T	17: 79,977,998 (GRCm39)	S320C	probably damaging	Het
Rrbp1	C	T	2: 143,831,864 (GRCm39)	R101H	probably benign	Het
Rtf1	G	A	2: 119,557,224 (GRCm39)	R443H	probably damaging	Het
Serac1	G	T	17: 6,099,115 (GRCm39)	L559I	probably damaging	Het
Slc12a1	A	G	2: 125,061,682 (GRCm39)	R958G	probably damaging	Het
Slc15a3	T	A	19: 10,833,350 (GRCm39)	W456R	probably damaging	Het
Slc28a2b	T	A	2: 122,347,550 (GRCm39)		probably null	Het
Slc35f5	C	T	1: 125,503,942 (GRCm39)	P290L	probably damaging	Het
Slc35g2	C	T	9: 100,435,170 (GRCm39)	R167Q	probably benign	Het
Spag4	T	C	2: 155,909,962 (GRCm39)	V302A	probably damaging	Het
Spire2	A	C	8: 124,084,836 (GRCm39)		probably benign	Het
Sptbn2	G	T	19: 4,774,772 (GRCm39)	V142L	probably damaging	Het
Syt17	T	A	7: 118,009,164 (GRCm39)	D352V	probably damaging	Het
Tars3	A	T	7: 65,314,717 (GRCm39)	D425V	probably benign	Het
Thsd7a	A	G	6: 12,554,907 (GRCm39)	S326P	probably benign	Het
Tnpo2	T	C	8: 85,767,257 (GRCm39)	S64P	probably damaging	Het
Tonsl	G	T	15: 76,517,685 (GRCm39)	A678D	probably benign	Het
Trim12c	A	G	7: 103,990,113 (GRCm39)		probably null	Het
Tsc22d1	A	G	14: 76,656,421 (GRCm39)	T885A	possibly damaging	Het
Ttn	T	C	2: 76,572,542 (GRCm39)	D26117G	probably damaging	Het
Ttn	T	A	2: 76,707,355 (GRCm39)		probably benign	Het
Ugt3a1	T	C	15: 9,306,342 (GRCm39)	F164L	probably benign	Het
Vmn2r89	A	G	14: 51,693,160 (GRCm39)	N170S	probably damaging	Het
Vrk2	G	T	11: 26,484,313 (GRCm39)		probably benign	Het
Wt1	C	A	2: 104,963,802 (GRCm39)	D207E	probably damaging	Het
Zbtb46	G	A	2: 181,053,608 (GRCm39)	A368V	probably benign	Het
Zc3h13	A	T	14: 75,560,694 (GRCm39)	D428V	unknown	Het
Zcchc8	C	G	5: 123,845,400 (GRCm39)	G320A	probably damaging	Het
Znfx1	T	C	2: 166,886,130 (GRCm39)	E810G	possibly damaging	Het

Other mutations in Cyp26b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01713:Cyp26b1	APN	6	84,551,283 (GRCm39)	missense	probably benign	0.00
IGL02530:Cyp26b1	APN	6	84,551,294 (GRCm39)	missense	possibly damaging	0.95
IGL02624:Cyp26b1	APN	6	84,561,321 (GRCm39)	missense	probably benign	0.00
IGL02676:Cyp26b1	APN	6	84,553,626 (GRCm39)	missense	probably damaging	1.00
R0125:Cyp26b1	UTSW	6	84,551,497 (GRCm39)	missense	probably damaging	1.00
R0268:Cyp26b1	UTSW	6	84,551,554 (GRCm39)	missense	probably damaging	1.00
R0281:Cyp26b1	UTSW	6	84,551,538 (GRCm39)	missense	probably damaging	1.00
R0575:Cyp26b1	UTSW	6	84,552,288 (GRCm39)	splice site	probably benign
R1167:Cyp26b1	UTSW	6	84,561,312 (GRCm39)	missense	probably damaging	1.00
R1171:Cyp26b1	UTSW	6	84,553,653 (GRCm39)	missense	possibly damaging	0.64
R1512:Cyp26b1	UTSW	6	84,553,979 (GRCm39)	missense	probably benign	0.16
R1791:Cyp26b1	UTSW	6	84,561,441 (GRCm39)	missense	probably benign	0.05
R1799:Cyp26b1	UTSW	6	84,561,254 (GRCm39)	missense	probably benign	0.37
R2065:Cyp26b1	UTSW	6	84,553,537 (GRCm39)	missense	probably benign	0.00
R2103:Cyp26b1	UTSW	6	84,552,032 (GRCm39)	missense	possibly damaging	0.67
R2900:Cyp26b1	UTSW	6	84,553,623 (GRCm39)	missense	possibly damaging	0.70
R4510:Cyp26b1	UTSW	6	84,551,473 (GRCm39)	missense	probably damaging	1.00
R4511:Cyp26b1	UTSW	6	84,551,473 (GRCm39)	missense	probably damaging	1.00
R4934:Cyp26b1	UTSW	6	84,553,954 (GRCm39)	missense	possibly damaging	0.65
R5585:Cyp26b1	UTSW	6	84,554,171 (GRCm39)	missense	probably damaging	0.99
R7229:Cyp26b1	UTSW	6	84,554,132 (GRCm39)	nonsense	probably null
R7497:Cyp26b1	UTSW	6	84,553,964 (GRCm39)	missense	possibly damaging	0.55
R7672:Cyp26b1	UTSW	6	84,561,351 (GRCm39)	missense	probably benign	0.04
R8346:Cyp26b1	UTSW	6	84,554,150 (GRCm39)	missense	probably benign	0.21
R9020:Cyp26b1	UTSW	6	84,552,056 (GRCm39)	missense	probably benign	0.09
R9029:Cyp26b1	UTSW	6	84,554,035 (GRCm39)	missense	probably benign	0.20
R9042:Cyp26b1	UTSW	6	84,553,590 (GRCm39)	missense	probably benign	0.18
R9068:Cyp26b1	UTSW	6	84,551,379 (GRCm39)	missense	probably damaging	0.96
R9536:Cyp26b1	UTSW	6	84,553,999 (GRCm39)	missense	probably benign	0.02
R9779:Cyp26b1	UTSW	6	84,552,113 (GRCm39)	missense	probably benign
X0063:Cyp26b1	UTSW	6	84,552,100 (GRCm39)	missense	probably benign	0.00
Z1176:Cyp26b1	UTSW	6	84,554,096 (GRCm39)	missense	probably benign	0.01
Z1177:Cyp26b1	UTSW	6	84,554,101 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCACTGGCAGAGAGAAGACATTC -3'
(R):5'- TGTGCTGTGACCAGACACTCATCC -3'

Sequencing Primer
(F):5'- GTATACCTCAAAGAGGTGGCCC -3'
(R):5'- AGACACTCATCCCACTTCTCC -3'

Posted On

2013-04-11