Mutagenetix > Incidental Mutation

Incidental Mutation 'R7338:Cyp2j11'

569635

Institutional Source

Beutler Lab

Gene Symbol

Cyp2j11

Ensembl Gene

ENSMUSG00000066097

Gene Name

cytochrome P450, family 2, subfamily j, polypeptide 11

Synonyms

Cyp2j11-ps

MMRRC Submission

045428-MU

Accession Numbers

Genbank: NM_001004141; MGI: 2140224

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7338 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96294508-96348662 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96307287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 391 (T391S)

Ref Sequence

ENSEMBL: ENSMUSP00000132180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015368]

AlphaFold

Q3UNV2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000015368
AA Change: T391S

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000132180
Gene: ENSMUSG00000066097
AA Change: T391S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:p450	44	500	4.3e-133	PFAM

Meta Mutation Damage Score

0.2180

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,376,743	S357P	possibly damaging	Het
Arhgap28	T	C	17: 67,896,111	R166G	probably damaging	Het
Bcan	T	A	3: 87,994,243	E384V	probably damaging	Het
Bcl9l	A	G	9: 44,508,708	N1137S	probably benign	Het
Caprin1	A	G	2: 103,779,423	L170S	probably benign	Het
Card6	C	T	15: 5,099,872	E681K	probably benign	Het
Catsperb	G	A	12: 101,480,984	V248I	probably benign	Het
Ccnj	T	A	19: 40,837,033	H62Q	probably damaging	Het
Cd180	A	C	13: 102,706,428	I661L	probably benign	Het
Cdk11b	A	G	4: 155,647,551	R473G	unknown	Het
Cep126	T	C	9: 8,099,798	T912A	possibly damaging	Het
Chek2	T	A	5: 110,873,514	V530E	probably benign	Het
Chga	G	T	12: 102,562,841	S359I	probably damaging	Het
Cnrip1	T	C	11: 17,054,657	V69A	probably damaging	Het
Cyp2a5	A	T	7: 26,842,947	Q458L	probably damaging	Het
Dhx16	T	C	17: 35,888,144	L794P	probably damaging	Het
Dscaml1	A	G	9: 45,674,504	T580A	probably benign	Het
Elmo1	A	T	13: 20,280,812	I184L	probably benign	Het
Gabra1	C	T	11: 42,182,294	G51S	unknown	Het
Gabrr3	C	A	16: 59,448,076	L351I	possibly damaging	Het
Gbp7	A	T	3: 142,538,025	N111I	probably damaging	Het
Gjd2	C	T	2: 114,011,102	R298H	probably damaging	Het
Gm5930	T	C	14: 44,336,457	Y141C	probably damaging	Het
Grin3a	G	T	4: 49,771,238	N511K	probably benign	Het
Hdac7	T	C	15: 97,810,022	D122G	probably benign	Het
Ifi204	G	A	1: 173,760,137	T152I	possibly damaging	Het
Lrrc9	C	T	12: 72,463,531		probably null	Het
Med21	T	A	6: 146,642,584		probably benign	Het
Mmp19	A	T	10: 128,799,083	T523S	probably benign	Het
Nav3	G	A	10: 109,769,212	T1000I	probably benign	Het
Nin	T	C	12: 70,044,064	D859G		Het
Nip7	T	G	8: 107,057,284	L52R	possibly damaging	Het
Olfr1039	A	T	2: 86,131,382	F94I	probably damaging	Het
Olfr524	A	T	7: 140,202,533	V79E	probably benign	Het
Olfr934	A	G	9: 38,982,520	Y175H	probably damaging	Het
Otop1	T	A	5: 38,300,203	Y435*	probably null	Het
Pak4	A	G	7: 28,564,956	S174P	probably benign	Het
Pcsk7	G	A	9: 45,925,989	R537Q	probably benign	Het
Podxl	G	A	6: 31,529,006	S34F	unknown	Het
Prr36	G	A	8: 4,216,212	R113C	probably damaging	Het
Ptk7	T	C	17: 46,579,599	I436V	probably benign	Het
Slc13a5	C	T	11: 72,266,484	V28I	probably benign	Het
Slc9a3r2	T	A	17: 24,650,208		probably benign	Het
Slco6d1	A	T	1: 98,421,372	D56V	probably benign	Het
Spg11	G	A	2: 122,055,377	R2317W	probably damaging	Het
Stom	T	A	2: 35,323,748		probably null	Het
Svs5	T	C	2: 164,332,808	L8P	possibly damaging	Het
Tmem141	C	A	2: 25,621,614	V39F	probably damaging	Het
Tmprss6	A	G	15: 78,459,819	L181P	probably damaging	Het
Tnni3	A	G	7: 4,521,380	S40P	probably benign	Het
Tubgcp4	A	G	2: 121,193,984	I548V	probably benign	Het
Twf2	A	G	9: 106,203,939		probably benign	Het
Wnt5b	C	A	6: 119,448,131		probably null	Het
Wrap73	A	G	4: 154,152,586	D210G	probably benign	Het
Yipf4	T	G	17: 74,489,776	S21A	probably benign	Het
Zscan20	A	G	4: 128,588,150	M573T	probably benign	Het

Other mutations in Cyp2j11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01101:Cyp2j11	APN	4	96339095	missense	probably benign
IGL01816:Cyp2j11	APN	4	96294924	missense	probably damaging	1.00
IGL02406:Cyp2j11	APN	4	96348539	missense	possibly damaging	0.56
E7848:Cyp2j11	UTSW	4	96319365	missense	probably benign	0.09
R0020:Cyp2j11	UTSW	4	96307404	missense	probably benign	0.19
R0020:Cyp2j11	UTSW	4	96307404	missense	probably benign	0.19
R1298:Cyp2j11	UTSW	4	96307260	critical splice donor site	probably null
R1411:Cyp2j11	UTSW	4	96345216	missense	probably benign	0.03
R1428:Cyp2j11	UTSW	4	96294880	missense	probably benign	0.01
R1740:Cyp2j11	UTSW	4	96319376	missense	probably benign	0.00
R1818:Cyp2j11	UTSW	4	96297739	missense	probably damaging	0.97
R1819:Cyp2j11	UTSW	4	96297739	missense	probably damaging	0.97
R1917:Cyp2j11	UTSW	4	96339974	missense	probably damaging	1.00
R2084:Cyp2j11	UTSW	4	96339201	missense	probably damaging	1.00
R2146:Cyp2j11	UTSW	4	96316358	missense	probably damaging	1.00
R2148:Cyp2j11	UTSW	4	96316358	missense	probably damaging	1.00
R2150:Cyp2j11	UTSW	4	96316358	missense	probably damaging	1.00
R4963:Cyp2j11	UTSW	4	96316382	missense	probably damaging	1.00
R5335:Cyp2j11	UTSW	4	96307352	missense	probably damaging	1.00
R5450:Cyp2j11	UTSW	4	96339876	missense	probably benign	0.44
R5688:Cyp2j11	UTSW	4	96345121	missense	probably damaging	1.00
R5978:Cyp2j11	UTSW	4	96319352	missense	probably damaging	1.00
R6061:Cyp2j11	UTSW	4	96348616	start gained	probably benign
R6075:Cyp2j11	UTSW	4	96345085	missense	probably benign	0.04
R6912:Cyp2j11	UTSW	4	96294871	missense	probably benign	0.00
R7394:Cyp2j11	UTSW	4	96316440	missense	probably benign	0.00
R7464:Cyp2j11	UTSW	4	96345120	missense	probably damaging	1.00
R7972:Cyp2j11	UTSW	4	96297634	missense	probably damaging	1.00
R8152:Cyp2j11	UTSW	4	96307292	missense	probably damaging	1.00
R8328:Cyp2j11	UTSW	4	96348368	missense	probably benign	0.03
R8383:Cyp2j11	UTSW	4	96348458	missense	probably benign	0.00
R8519:Cyp2j11	UTSW	4	96319302	missense	probably benign	0.44
R8789:Cyp2j11	UTSW	4	96339168	missense	probably damaging	0.99
R9268:Cyp2j11	UTSW	4	96319544	intron	probably benign
R9323:Cyp2j11	UTSW	4	96307382	missense	probably benign	0.01
R9457:Cyp2j11	UTSW	4	96307359	missense	probably damaging	0.98
R9590:Cyp2j11	UTSW	4	96307377	missense	probably benign	0.11
Z1176:Cyp2j11	UTSW	4	96307303	missense	probably damaging	0.99
Z1176:Cyp2j11	UTSW	4	96307436	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATTCCACACGGTCACCCTTG -3'
(R):5'- AGATCCCCTGTTTTCTTGCAGAA -3'

Sequencing Primer
(F):5'- GCTGGCACCTGTGACACAAAC -3'
(R):5'- CTTGCAGAAAAAGTACACTCTGAG -3'

Posted On

2019-09-13