Mutagenetix > Incidental Mutations

Incidental Mutation 'R4424:Apol11b'

327284

Institutional Source

Beutler Lab

Gene Symbol

Apol11b

Ensembl Gene

ENSMUSG00000091694

Gene Name

apolipoprotein L 11b

Synonyms

A330102K04Rik

MMRRC Submission

041696-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77633946-77643286 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 77637933 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137798 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166623] [ENSMUST00000180949] [ENSMUST00000181154] [ENSMUST00000181467]

Predicted Effect

probably null
Transcript: ENSMUST00000166623

SMART Domains

Protein: ENSMUSP00000129476
Gene: ENSMUSG00000091694

Domain	Start	End	E-Value	Type
Pfam:ApoL	30	311	8.6e-78	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000180949

SMART Domains

Protein: ENSMUSP00000137890
Gene: ENSMUSG00000091694

Domain	Start	End	E-Value	Type
Pfam:ApoL	29	323	5.1e-76	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000181154

SMART Domains

Protein: ENSMUSP00000137798
Gene: ENSMUSG00000091694

Domain	Start	End	E-Value	Type
Pfam:ApoL	29	76	5.4e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181467

SMART Domains

Protein: ENSMUSP00000138009
Gene: ENSMUSG00000091694

Domain	Start	End	E-Value	Type
Pfam:ApoL	1	144	2.3e-15	PFAM

Meta Mutation Damage Score

0.9381

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

95% (69/73)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,615,147		probably benign	Het
Aimp1	A	T	3: 132,667,492	L229Q	probably benign	Het
Ankrd16	T	A	2: 11,784,404	D267E	possibly damaging	Het
Arfgap1	C	A	2: 180,981,076	D327E	probably benign	Het
Arid3b	A	T	9: 57,833,868	D98E	probably benign	Het
Art2b	T	A	7: 101,579,922	I257F	probably benign	Het
Atp5a1	T	A	18: 77,780,066		probably benign	Het
Carmil3	A	G	14: 55,501,471	T861A	probably benign	Het
Cep164	A	T	9: 45,779,704	F1259L	possibly damaging	Het
Chrnd	T	C	1: 87,195,790	V350A	probably benign	Het
Clcn7	T	C	17: 25,160,176	L744P	probably damaging	Het
Csl	T	A	10: 99,758,591	D204V	possibly damaging	Het
Cyp2c29	G	T	19: 39,287,176	W20L	probably damaging	Het
Dhrs13	G	T	11: 78,037,125	G266*	probably null	Het
Dll3	T	C	7: 28,296,291	N362D	probably damaging	Het
Fanca	A	G	8: 123,288,793	V715A	probably benign	Het
Fhod1	T	C	8: 105,337,351		probably benign	Het
Fpr2	C	T	17: 17,893,132	P130L	probably damaging	Het
Glce	A	G	9: 62,060,253	Y539H	probably damaging	Het
Gm11639	T	G	11: 104,736,114		probably null	Het
Gm4758	A	G	16: 36,312,589	D76G	probably null	Het
Hfe	A	T	13: 23,706,883	V91E	probably benign	Het
Hoxd13	A	T	2: 74,669,957	K281*	probably null	Het
Ighv1-66	A	T	12: 115,593,537	W3R	probably damaging	Het
Impg2	G	A	16: 56,260,025	V622I	possibly damaging	Het
Jun	A	G	4: 95,050,847	M142T	probably benign	Het
Krt78	T	C	15: 101,947,940	T479A	probably benign	Het
Lama3	T	A	18: 12,519,872	C216*	probably null	Het
Lin54	G	T	5: 100,446,560	T582K	probably damaging	Het
Maats1	G	T	16: 38,320,365	P409T	probably damaging	Het
Mapk11	A	G	15: 89,145,373		probably null	Het
Mindy3	A	G	2: 12,348,199	M397T	probably benign	Het
Mrpl41	T	C	2: 24,974,406	T85A	possibly damaging	Het
Msh6	T	A	17: 87,990,789	L1354*	probably null	Het
Mtmr12	T	C	15: 12,230,314	V41A	probably damaging	Het
Myh2	A	T	11: 67,192,725	Q1478L	probably benign	Het
Myo6	A	G	9: 80,288,038	K897E	probably benign	Het
Naprt	G	T	15: 75,892,756		probably null	Het
Nrl	G	A	14: 55,522,218	S84L	probably benign	Het
Nxf1	A	G	19: 8,766,764		probably benign	Het
Olfr971	A	T	9: 39,840,356	R307S	possibly damaging	Het
Panx2	G	T	15: 89,068,220	V305F	probably benign	Het
Pcdhga1	T	C	18: 37,662,579	L212P	probably damaging	Het
Pik3ap1	G	A	19: 41,375,881	T133I	probably benign	Het
Ppat	A	G	5: 76,915,214	W517R	probably damaging	Het
Ppp1r16b	C	T	2: 158,757,254	T382I	probably benign	Het
Prkdc	A	G	16: 15,773,739	K2694E	probably damaging	Het
Prkdc	G	A	16: 15,836,082	R3901H	probably damaging	Het
Psma8	A	G	18: 14,721,190	I42M	probably damaging	Het
Ptprd	A	T	4: 76,102,963	M599K	probably benign	Het
Rnmt	A	G	18: 68,311,671	D237G	probably null	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Scaf11	G	A	15: 96,418,428	T1085I	possibly damaging	Het
Sec14l3	G	A	11: 4,066,210	R43Q	probably damaging	Het
Shc4	G	T	2: 125,652,522	T131K	probably benign	Het
Snx27	A	G	3: 94,562,023	F4L	probably benign	Het
Sorcs1	T	C	19: 50,378,941	T228A	probably damaging	Het
Sptan1	C	T	2: 30,029,709		probably benign	Het
Syvn1	C	T	19: 6,049,921		probably benign	Het
Tex47	G	T	5: 7,305,364	A182S	probably benign	Het
Thegl	T	C	5: 77,054,536	I268T	possibly damaging	Het
Tpcn1	T	C	5: 120,542,518	K549R	probably damaging	Het
Upf3a	C	A	8: 13,796,573	P318T	probably benign	Het
Zbtb40	A	T	4: 136,998,694	M518K	probably damaging	Het
Zcchc14	G	A	8: 121,651,941		probably benign	Het
Zfp687	G	A	3: 95,009,128	P861L	probably damaging	Het

Other mutations in Apol11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Apol11b	APN	15	77638019	missense	probably damaging	0.99
IGL01295:Apol11b	APN	15	77638019	missense	probably damaging	0.99
IGL01398:Apol11b	APN	15	77638019	missense	probably damaging	0.99
IGL01399:Apol11b	APN	15	77638019	missense	probably damaging	0.99
IGL01400:Apol11b	APN	15	77638019	missense	probably damaging	0.99
IGL01402:Apol11b	APN	15	77638019	missense	probably damaging	0.99
R1815:Apol11b	UTSW	15	77635572	missense	probably damaging	1.00
R2327:Apol11b	UTSW	15	77637953	missense	probably damaging	0.97
R3917:Apol11b	UTSW	15	77635304	missense	probably benign	0.03
R4766:Apol11b	UTSW	15	77634933	missense	probably benign	0.00
R4804:Apol11b	UTSW	15	77635266	missense	probably damaging	1.00
R5440:Apol11b	UTSW	15	77635593	nonsense	probably null
R5600:Apol11b	UTSW	15	77635088	missense	probably damaging	0.97
R5866:Apol11b	UTSW	15	77640547	missense	probably null	0.97
R5997:Apol11b	UTSW	15	77635497	missense	probably benign	0.01
R6213:Apol11b	UTSW	15	77638000	missense	possibly damaging	0.82
R6249:Apol11b	UTSW	15	77635337	missense	probably benign	0.00
R6364:Apol11b	UTSW	15	77638058	missense	possibly damaging	0.46
R6984:Apol11b	UTSW	15	77635346	missense	probably benign	0.01
R8064:Apol11b	UTSW	15	77635217	missense	not run
Z1088:Apol11b	UTSW	15	77638007	missense	probably benign	0.17
Z1176:Apol11b	UTSW	15	77638007	missense	probably benign	0.17
Z1177:Apol11b	UTSW	15	77638007	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- AGATGGCAGAAATCGCCCTG -3'
(R):5'- TTTCATGGGACCCCGTACTG -3'

Sequencing Primer
(F):5'- AATCGCCCTGGCATATTGAG -3'
(R):5'- ATGGGACCCCGTACTGTCATC -3'

Posted On

2015-07-07