Mutagenetix > Incidental Mutation

Incidental Mutation 'R9105:Apol11b'

691977

Institutional Source

Beutler Lab

Gene Symbol

Apol11b

Ensembl Gene

ENSMUSG00000091694

Gene Name

apolipoprotein L 11b

Synonyms

A330102K04Rik

MMRRC Submission

068917-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R9105 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77518151-77527486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 77524771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 5 (E5K)

Ref Sequence

ENSEMBL: ENSMUSP00000137890 (fasta)

Gene Model

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

AlphaFold

E9PUZ0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166623
AA Change: E5K

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129476
Gene: ENSMUSG00000091694
AA Change: E5K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180949
AA Change: E5K

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137890
Gene: ENSMUSG00000091694
AA Change: E5K

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000181154
AA Change: E5K

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137798
Gene: ENSMUSG00000091694
AA Change: E5K

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.0%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,439,407 (GRCm39)	K139*	probably null	Het
Acsl5	A	T	19: 55,269,002 (GRCm39)	K221I	probably benign	Het
Actrt2	G	A	4: 154,751,677 (GRCm39)	T153I	probably damaging	Het
Adam34	C	T	8: 44,103,785 (GRCm39)	C620Y	probably damaging	Het
Adgrl2	T	C	3: 148,543,289 (GRCm39)	K812E	possibly damaging	Het
Aig1	T	C	10: 13,529,339 (GRCm39)	T224A	probably benign	Het
Apbb2	G	T	5: 66,460,015 (GRCm39)	S694*	probably null	Het
Bcl3	T	A	7: 19,543,175 (GRCm39)	I352F	probably damaging	Het
Btbd19	C	T	4: 116,977,961 (GRCm39)	R276Q	probably damaging	Het
Btnl9	G	A	11: 49,066,461 (GRCm39)	P368S	probably benign	Het
Calhm5	A	G	10: 33,968,144 (GRCm39)	V303A	probably benign	Het
Ccdc97	T	C	7: 25,412,537 (GRCm39)	T302A	probably benign	Het
Cdh11	T	C	8: 103,360,968 (GRCm39)	D790G	probably damaging	Het
Cep350	T	C	1: 155,835,561 (GRCm39)	N45S	probably damaging	Het
Col5a2	T	A	1: 45,419,366 (GRCm39)	Y1238F	probably benign	Het
Ctdspl2	C	T	2: 121,837,351 (GRCm39)	L373F	probably damaging	Het
Dolpp1	A	T	2: 30,289,152 (GRCm39)		probably null	Het
Efr3b	A	T	12: 4,031,782 (GRCm39)	L340Q	probably damaging	Het
Ehd4	T	C	2: 119,932,760 (GRCm39)	N222S	probably damaging	Het
Fgf8	A	C	19: 45,730,490 (GRCm39)		probably benign	Het
Frmd4a	A	G	2: 4,539,994 (GRCm39)	I205V	probably damaging	Het
G6pc3	C	T	11: 102,084,403 (GRCm39)	A271V	probably benign	Het
Gab1	T	C	8: 81,515,589 (GRCm39)	D243G	probably damaging	Het
Gbp9	A	G	5: 105,241,942 (GRCm39)	I205T	probably benign	Het
Gtf2b	T	A	3: 142,489,050 (GRCm39)	F304Y	probably benign	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Ip6k3	A	G	17: 27,364,169 (GRCm39)	L293P	probably damaging	Het
Itgb7	A	G	15: 102,135,904 (GRCm39)	S44P	probably damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Lancl1	T	A	1: 67,043,962 (GRCm39)	Y346F	possibly damaging	Het
Lca5l	T	G	16: 95,960,671 (GRCm39)	E602A	probably damaging	Het
Lcor	G	A	19: 41,573,311 (GRCm39)	A689T	possibly damaging	Het
Lrp1b	A	G	2: 41,396,803 (GRCm39)	V421A		Het
Lrrtm3	A	G	10: 63,924,336 (GRCm39)	V277A	possibly damaging	Het
Lypla1	T	C	1: 4,911,282 (GRCm39)	L189P	probably damaging	Het
Msantd3	A	T	4: 48,560,963 (GRCm39)	N180Y	possibly damaging	Het
Muc17	T	C	5: 137,171,238 (GRCm39)	Y131C		Het
Myo19	T	C	11: 84,794,029 (GRCm39)	I651T	probably damaging	Het
Ndst2	T	C	14: 20,780,070 (GRCm39)	S57G	probably benign	Het
Or12d16-ps1	C	T	17: 37,705,731 (GRCm39)	T100I	probably benign	Het
Or1j14	A	G	2: 36,418,294 (GRCm39)	Y290C	probably damaging	Het
Or4c117	C	T	2: 88,955,995 (GRCm39)	V27I	probably benign	Het
Or6p1	T	A	1: 174,258,861 (GRCm39)	I289N	probably damaging	Het
Pik3c2a	T	C	7: 115,972,049 (GRCm39)	T794A	probably benign	Het
Pla2g6	T	A	15: 79,183,397 (GRCm39)		probably null	Het
Pnrc1	C	A	4: 33,246,207 (GRCm39)	G251*	probably null	Het
Pramel14	A	T	4: 143,718,595 (GRCm39)		probably benign	Het
Psg17	A	T	7: 18,555,333 (GRCm39)	V3E	probably benign	Het
Psmb9	A	T	17: 34,401,905 (GRCm39)		probably benign	Het
Slc12a5	A	G	2: 164,838,114 (GRCm39)	T982A	probably benign	Het
Srrd	T	C	5: 112,485,465 (GRCm39)	D286G	possibly damaging	Het
Tcp10b	T	C	17: 13,285,236 (GRCm39)	S153P	probably benign	Het
Tmem131	C	A	1: 36,854,591 (GRCm39)	S886I	probably benign	Het
Ttk	T	A	9: 83,745,544 (GRCm39)	D630E	probably damaging	Het
Vnn3	T	C	10: 23,740,461 (GRCm39)	W255R	probably damaging	Het
Vps13c	T	G	9: 67,778,081 (GRCm39)		probably benign	Het
Wdfy3	T	C	5: 102,030,512 (GRCm39)	Q2332R	probably benign	Het
Xkr8	A	T	4: 132,459,648 (GRCm39)	Y43*	probably null	Het

Other mutations in Apol11b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01294:Apol11b	APN	15	77,522,219 (GRCm39)	missense	probably damaging	0.99
IGL01295:Apol11b	APN	15	77,522,219 (GRCm39)	missense	probably damaging	0.99
IGL01398:Apol11b	APN	15	77,522,219 (GRCm39)	missense	probably damaging	0.99
IGL01399:Apol11b	APN	15	77,522,219 (GRCm39)	missense	probably damaging	0.99
IGL01400:Apol11b	APN	15	77,522,219 (GRCm39)	missense	probably damaging	0.99
IGL01402:Apol11b	APN	15	77,522,219 (GRCm39)	missense	probably damaging	0.99
R1815:Apol11b	UTSW	15	77,519,772 (GRCm39)	missense	probably damaging	1.00
R2327:Apol11b	UTSW	15	77,522,153 (GRCm39)	missense	probably damaging	0.97
R3917:Apol11b	UTSW	15	77,519,504 (GRCm39)	missense	probably benign	0.03
R4424:Apol11b	UTSW	15	77,522,133 (GRCm39)	critical splice donor site	probably null
R4766:Apol11b	UTSW	15	77,519,133 (GRCm39)	missense	probably benign	0.00
R4804:Apol11b	UTSW	15	77,519,466 (GRCm39)	missense	probably damaging	1.00
R5440:Apol11b	UTSW	15	77,519,793 (GRCm39)	nonsense	probably null
R5600:Apol11b	UTSW	15	77,519,288 (GRCm39)	missense	probably damaging	0.97
R5866:Apol11b	UTSW	15	77,524,747 (GRCm39)	missense	probably null	0.97
R5997:Apol11b	UTSW	15	77,519,697 (GRCm39)	missense	probably benign	0.01
R6213:Apol11b	UTSW	15	77,522,200 (GRCm39)	missense	possibly damaging	0.82
R6249:Apol11b	UTSW	15	77,519,537 (GRCm39)	missense	probably benign	0.00
R6364:Apol11b	UTSW	15	77,522,258 (GRCm39)	missense	possibly damaging	0.46
R6984:Apol11b	UTSW	15	77,519,546 (GRCm39)	missense	probably benign	0.01
R8064:Apol11b	UTSW	15	77,519,417 (GRCm39)	missense	not run
R9081:Apol11b	UTSW	15	77,524,771 (GRCm39)	missense	possibly damaging	0.91
R9082:Apol11b	UTSW	15	77,524,771 (GRCm39)	missense	possibly damaging	0.91
R9569:Apol11b	UTSW	15	77,524,771 (GRCm39)	missense	possibly damaging	0.91
R9570:Apol11b	UTSW	15	77,524,771 (GRCm39)	missense	possibly damaging	0.91
R9571:Apol11b	UTSW	15	77,524,771 (GRCm39)	missense	possibly damaging	0.91
R9573:Apol11b	UTSW	15	77,524,771 (GRCm39)	missense	possibly damaging	0.91
R9790:Apol11b	UTSW	15	77,519,475 (GRCm39)	missense	probably benign	0.17
R9791:Apol11b	UTSW	15	77,519,475 (GRCm39)	missense	probably benign	0.17
Z1088:Apol11b	UTSW	15	77,522,207 (GRCm39)	missense	probably benign	0.17
Z1176:Apol11b	UTSW	15	77,522,207 (GRCm39)	missense	probably benign	0.17
Z1177:Apol11b	UTSW	15	77,522,207 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- GTTTGCACACCATACACAGC -3'
(R):5'- CCTGGAGGAACATCTGACTG -3'

Sequencing Primer
(F):5'- TGTGGGCATCTTACACTCAAGGTAC -3'
(R):5'- TGGAGGAACATCTGACTGTCACC -3'

Posted On

2021-12-30