Mutagenetix > Incidental Mutation

Incidental Mutation 'R3079:Aqp11'

265332

Institutional Source

Beutler Lab

Gene Symbol

Aqp11

Ensembl Gene

ENSMUSG00000042797

Gene Name

aquaporin 11

Synonyms

sjds, 1700015P13Rik

MMRRC Submission

040569-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3079 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97375586-97387454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97386795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 134 (C134S)

Ref Sequence

ENSEMBL: ENSMUSP00000146215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000206389]

AlphaFold

Q8BHH1

Predicted Effect

unknown
Transcript: ENSMUST00000084986
AA Change: C117S

SMART Domains

Protein: ENSMUSP00000082054
Gene: ENSMUSG00000042797
AA Change: C117S

Domain	Start	End	E-Value	Type
transmembrane domain	15	34	N/A	INTRINSIC
Pfam:MIP	71	254	4.1e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205737

Predicted Effect

probably benign
Transcript: ENSMUST00000206389
AA Change: C134S

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display premature death, kidney failure, polycystic kidneys with cysts originating from the proximal tubules, and growth retardation. Mice homozygous for an ENU-induced mutation are apparently healthy but exhibit sudden death between2 and 3 weeks of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	T	15: 102,248,879 (GRCm39)	L168H	probably damaging	Het
Abca15	T	C	7: 119,984,392 (GRCm39)	W1158R	probably damaging	Het
Anks4b	A	T	7: 119,781,146 (GRCm39)	D59V	probably damaging	Het
Arhgap35	A	G	7: 16,296,501 (GRCm39)	Y855H	probably damaging	Het
Ces1c	A	C	8: 93,846,975 (GRCm39)	L93R	probably damaging	Het
Cit	A	G	5: 116,063,545 (GRCm39)	D462G	probably damaging	Het
Col6a6	T	C	9: 105,631,422 (GRCm39)	R1494G	probably benign	Het
Edc4	T	C	8: 106,611,750 (GRCm39)	S109P	possibly damaging	Het
Elp4	T	C	2: 105,639,790 (GRCm39)	K130E	possibly damaging	Het
Gemin5	A	T	11: 58,036,345 (GRCm39)	V666E	probably damaging	Het
Hba-x	A	G	11: 32,227,616 (GRCm39)	D62G	probably damaging	Het
Hnrnpul1	A	T	7: 25,432,540 (GRCm39)	Y474*	probably null	Het
Ighv5-6	T	A	12: 113,589,237 (GRCm39)	D81V	probably damaging	Het
Krt1	C	T	15: 101,754,622 (GRCm39)	G543S	unknown	Het
Mbtps1	A	G	8: 120,257,944 (GRCm39)	V431A	probably benign	Het
Mbtps1	T	C	8: 120,265,602 (GRCm39)	D315G	probably damaging	Het
Mrc2	T	C	11: 105,227,539 (GRCm39)	S591P	probably damaging	Het
Msh5	T	C	17: 35,265,208 (GRCm39)	E48G	probably benign	Het
Mybpc2	T	C	7: 44,155,505 (GRCm39)	D916G	probably damaging	Het
Nebl	A	G	2: 17,381,462 (GRCm39)	V738A	possibly damaging	Het
Nlrp1b	T	C	11: 71,108,794 (GRCm39)	R236G	probably benign	Het
Obsl1	G	T	1: 75,467,467 (GRCm39)	R1436S	probably damaging	Het
Or14j4	T	C	17: 37,921,169 (GRCm39)	T158A	probably benign	Het
Or51a7	C	T	7: 102,622,254 (GRCm39)		probably null	Het
Padi2	T	C	4: 140,677,189 (GRCm39)	V659A	probably damaging	Het
Pnpla6	T	G	8: 3,591,512 (GRCm39)	S1169A	probably benign	Het
Pramel30	T	G	4: 144,058,098 (GRCm39)	L235R	probably damaging	Het
Prl6a1	A	G	13: 27,502,983 (GRCm39)	D193G	possibly damaging	Het
Rce1	G	T	19: 4,674,750 (GRCm39)	C138*	probably null	Het
Shoc1	G	T	4: 59,047,848 (GRCm39)	T1257N	possibly damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Skint2	A	G	4: 112,496,870 (GRCm39)	T259A	probably benign	Het
Slc66a1	G	T	4: 139,033,829 (GRCm39)	A30D	probably damaging	Het
Slco5a1	C	T	1: 12,949,486 (GRCm39)	G635S	probably damaging	Het
Slfn1	T	C	11: 83,011,986 (GRCm39)	V34A	probably benign	Het
Syt4	A	G	18: 31,574,738 (GRCm39)	V293A	probably benign	Het
Trh	T	C	6: 92,219,551 (GRCm39)	E255G	possibly damaging	Het
Ube4a	G	T	9: 44,871,371 (GRCm39)	N9K	probably damaging	Het
Uck1	A	T	2: 32,148,089 (GRCm39)		probably benign	Het
Vmn1r222	A	G	13: 23,416,631 (GRCm39)	M194T	possibly damaging	Het
Vmn2r91	T	G	17: 18,355,973 (GRCm39)		probably null	Het
Wbp2	C	T	11: 115,970,534 (GRCm39)		probably null	Het
Zdbf2	A	G	1: 63,346,636 (GRCm39)	I1672V	probably benign	Het

Other mutations in Aqp11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01898:Aqp11	APN	7	97,375,870 (GRCm39)	missense	probably benign	0.01
IGL02685:Aqp11	APN	7	97,386,759 (GRCm39)	missense	probably damaging	0.99
R0023:Aqp11	UTSW	7	97,375,896 (GRCm39)	missense	possibly damaging	0.94
R0023:Aqp11	UTSW	7	97,375,896 (GRCm39)	missense	possibly damaging	0.94
R0062:Aqp11	UTSW	7	97,387,068 (GRCm39)	missense	probably benign	0.00
R0463:Aqp11	UTSW	7	97,378,228 (GRCm39)	missense	probably benign	0.04
R1937:Aqp11	UTSW	7	97,386,725 (GRCm39)	missense	possibly damaging	0.95
R2126:Aqp11	UTSW	7	97,386,692 (GRCm39)	missense	probably benign	0.35
R3844:Aqp11	UTSW	7	97,387,046 (GRCm39)	missense	probably damaging	1.00
R5183:Aqp11	UTSW	7	97,386,963 (GRCm39)	missense	probably benign	0.00
R5578:Aqp11	UTSW	7	97,386,665 (GRCm39)	missense	probably damaging	1.00
R5707:Aqp11	UTSW	7	97,386,635 (GRCm39)	missense	possibly damaging	0.84
R7549:Aqp11	UTSW	7	97,387,284 (GRCm39)	start gained	probably benign
R7618:Aqp11	UTSW	7	97,386,873 (GRCm39)	missense	probably benign	0.00
X0022:Aqp11	UTSW	7	97,378,268 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTGGTAGGAATAACAAACCTGC -3'
(R):5'- CCTGGACTCTGACACTGATC -3'

Sequencing Primer
(F):5'- TGATGAGTGCAGCCAGC -3'
(R):5'- GGACTCTGACACTGATCTACTTC -3'

Posted On

2015-02-05