Mutagenetix > Incidental Mutation

Incidental Mutation 'R0023:Aqp11'

178048

Institutional Source

Beutler Lab

Gene Symbol

Aqp11

Ensembl Gene

ENSMUSG00000042797

Gene Name

aquaporin 11

Synonyms

sjds, 1700015P13Rik

MMRRC Submission

038318-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0023 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

97375586-97387454 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97375896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 251 (I251N)

Ref Sequence

ENSEMBL: ENSMUSP00000146215 (fasta)

Gene Model

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

AlphaFold

Q8BHH1

Predicted Effect

unknown
Transcript: ENSMUST00000084986
AA Change: I195N

SMART Domains

Protein: ENSMUSP00000082054
Gene: ENSMUSG00000042797
AA Change: I195N

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

noncoding transcript
Transcript: ENSMUST00000205784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205932

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206389
AA Change: I251N

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.2%

Validation Efficiency

98% (59/60)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	A	C	4: 144,255,567 (GRCm39)	D329A	probably damaging	Het
Abcc12	T	A	8: 87,264,962 (GRCm39)	H661L	probably damaging	Het
Abcg4	A	G	9: 44,186,672 (GRCm39)	Y491H	probably damaging	Het
Acsbg2	C	G	17: 57,154,710 (GRCm39)	A481P	probably damaging	Het
Aknad1	T	A	3: 108,688,501 (GRCm39)	C610S	probably benign	Het
Ang4	G	T	14: 52,001,860 (GRCm39)	Y29*	probably null	Het
Arid1a	G	T	4: 133,418,487 (GRCm39)	T1032K	unknown	Het
Atg16l1	T	C	1: 87,717,187 (GRCm39)	V538A	probably benign	Het
Bbs1	C	T	19: 4,956,042 (GRCm39)	A44T	probably damaging	Het
Bpifa3	A	C	2: 153,980,070 (GRCm39)	H234P	probably damaging	Het
Btbd9	A	T	17: 30,749,188 (GRCm39)	V42E	probably damaging	Het
Carmil3	C	G	14: 55,730,333 (GRCm39)	S15R	probably damaging	Het
Casp8ap2	A	G	4: 32,640,185 (GRCm39)	D413G	probably damaging	Het
Cfap44	T	A	16: 44,241,583 (GRCm39)	F651L	probably benign	Het
Clcn3	A	T	8: 61,386,104 (GRCm39)		probably benign	Het
Crip3	A	G	17: 46,741,920 (GRCm39)	K136E	probably damaging	Het
Ctr9	G	A	7: 110,643,154 (GRCm39)	A509T	possibly damaging	Het
D930020B18Rik	T	C	10: 121,525,726 (GRCm39)	S367P	probably damaging	Het
Dhrs11	A	T	11: 84,713,976 (GRCm39)	L125H	probably damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Efcab7	A	T	4: 99,758,834 (GRCm39)		probably benign	Het
Eif2ak4	A	C	2: 118,293,202 (GRCm39)	S1253R	probably damaging	Het
Emc1	A	G	4: 139,098,320 (GRCm39)	D767G	probably damaging	Het
Fads1	G	A	19: 10,164,261 (GRCm39)		probably benign	Het
Fbxw26	T	C	9: 109,547,079 (GRCm39)	T449A	probably benign	Het
Frrs1	T	C	3: 116,690,437 (GRCm39)	F27L	probably damaging	Het
Fry	T	C	5: 150,374,563 (GRCm39)	S2358P	possibly damaging	Het
Gas6	A	C	8: 13,520,344 (GRCm39)	L448R	probably damaging	Het
Hikeshi	T	C	7: 89,569,412 (GRCm39)		probably benign	Het
Ifngr1	C	T	10: 19,485,197 (GRCm39)	R399*	probably null	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Knl1	C	T	2: 118,933,030 (GRCm39)	T2063I	possibly damaging	Het
Lyzl6	A	G	11: 103,527,697 (GRCm39)	V9A	probably benign	Het
Macf1	A	T	4: 123,382,107 (GRCm39)		probably benign	Het
Myo6	T	C	9: 80,190,816 (GRCm39)	V789A	possibly damaging	Het
Myo9b	A	T	8: 71,786,412 (GRCm39)	R693W	probably damaging	Het
Nasp	A	G	4: 116,462,968 (GRCm39)		probably benign	Het
Nr1i3	T	C	1: 171,044,900 (GRCm39)	F247L	probably damaging	Het
Plekhs1	T	G	19: 56,466,948 (GRCm39)	S260A	probably damaging	Het
Rpl21-ps6	T	C	17: 56,222,536 (GRCm39)		noncoding transcript	Het
Rtcb	A	T	10: 85,785,315 (GRCm39)		probably benign	Het
Sppl2a	T	A	2: 126,755,213 (GRCm39)		probably null	Het
Suco	A	T	1: 161,673,154 (GRCm39)		probably null	Het
Tnn	T	A	1: 159,932,498 (GRCm39)	T1075S	probably benign	Het
Traf3	T	A	12: 111,209,912 (GRCm39)	C169*	probably null	Het
Ucp3	G	T	7: 100,134,250 (GRCm39)	V288L	probably benign	Het
Ulk3	C	A	9: 57,497,639 (GRCm39)	C4*	probably null	Het
Vmn1r73	A	T	7: 11,490,997 (GRCm39)	T272S	probably benign	Het
Vmn2r115	G	A	17: 23,565,252 (GRCm39)	E380K	probably benign	Het
Vmn2r3	T	A	3: 64,182,787 (GRCm39)	N304I	probably damaging	Het
Xylt1	G	T	7: 117,233,928 (GRCm39)	G485V	probably damaging	Het
Yars1	A	G	4: 129,090,981 (GRCm39)	T130A	probably benign	Het
Zfp652	A	T	11: 95,644,295 (GRCm39)	R205*	probably null	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
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
R3079:Aqp11	UTSW	7	97,386,795 (GRCm39)	missense	probably benign	0.10
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'- ACAGAATTTCTTGGTCCTGCCCG -3'
(R):5'- AGAAGCCCTGCGACTTTACAGAAC -3'

Sequencing Primer
(F):5'- GAATGAGCCTTTTCTAGCAGC -3'
(R):5'- TGCGACTTTACAGAACAAATGACTC -3'

Posted On

2014-05-07