Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02474:Aqr'

294870

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aqr

Ensembl Gene

ENSMUSG00000040383

Gene Name

aquarius

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02474

Quality Score

Status

Chromosome

Chromosomal Location

113931642-114005788 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113943127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 1149 (N1149Y)

Ref Sequence

ENSEMBL: ENSMUSP00000047157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043160] [ENSMUST00000102543]

AlphaFold

Q8CFQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000043160
AA Change: N1149Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047157
Gene: ENSMUSG00000040383
AA Change: N1149Y

Domain	Start	End	E-Value	Type
Pfam:Aquarius_N	18	802	N/A	PFAM
Pfam:ResIII	797	911	8.2e-7	PFAM
Pfam:AAA_11	801	1111	9.6e-32	PFAM
Pfam:AAA_19	807	894	3.7e-11	PFAM
Pfam:AAA_12	1119	1312	2.1e-27	PFAM
low complexity region	1394	1417	N/A	INTRINSIC
low complexity region	1455	1468	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102543
AA Change: N1149Y

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099602
Gene: ENSMUSG00000040383
AA Change: N1149Y

Domain	Start	End	E-Value	Type
low complexity region	43	56	N/A	INTRINSIC
low complexity region	112	124	N/A	INTRINSIC
low complexity region	762	776	N/A	INTRINSIC
Pfam:AAA_11	801	1111	3.2e-32	PFAM
Pfam:AAA_19	807	893	6.5e-11	PFAM
Pfam:AAA_12	1119	1312	2.6e-27	PFAM
low complexity region	1348	1359	N/A	INTRINSIC
low complexity region	1371	1382	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140441

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5. [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
Afdn	A	G	17: 14,038,491 (GRCm39)	E283G	probably damaging	Het
Ahnak	A	G	19: 8,982,297 (GRCm39)	I1194V	probably benign	Het
Bms1	T	C	6: 118,393,480 (GRCm39)	I131V	probably benign	Het
Cacna1s	A	C	1: 136,046,118 (GRCm39)	T1461P	probably benign	Het
Chrnb3	T	C	8: 27,883,397 (GRCm39)	S113P	probably damaging	Het
Col1a2	C	T	6: 4,516,398 (GRCm39)	R171C	unknown	Het
Cramp1	A	G	17: 25,204,024 (GRCm39)	V318A	probably damaging	Het
Csf2ra	A	G	19: 61,214,975 (GRCm39)	V163A	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ctnnd2	A	G	15: 30,669,708 (GRCm39)	D439G	possibly damaging	Het
Dnah11	T	A	12: 117,991,180 (GRCm39)		probably null	Het
Dyrk4	C	A	6: 126,857,194 (GRCm39)	C495F	probably damaging	Het
Gabra6	A	G	11: 42,198,244 (GRCm39)	V402A	probably benign	Het
Gba2	T	C	4: 43,568,538 (GRCm39)	M643V	possibly damaging	Het
Gbp9	A	T	5: 105,242,433 (GRCm39)		probably benign	Het
Ginm1	A	G	10: 7,653,532 (GRCm39)		probably benign	Het
Git1	T	A	11: 77,394,217 (GRCm39)	D282E	probably damaging	Het
Gm5799	T	C	14: 43,782,086 (GRCm39)	I86T	probably damaging	Het
Gm9894	T	C	13: 67,913,213 (GRCm39)		noncoding transcript	Het
Gng12	A	G	6: 66,992,745 (GRCm39)	K4R	probably benign	Het
Hnrnpul1	A	T	7: 25,426,182 (GRCm39)	D556E	probably benign	Het
Kat6b	T	A	14: 21,719,107 (GRCm39)	L1153Q	possibly damaging	Het
Ly75	A	T	2: 60,213,526 (GRCm39)	L17Q	probably null	Het
Mc5r	T	C	18: 68,471,910 (GRCm39)	F90L	probably damaging	Het
Or1x2	C	A	11: 50,918,192 (GRCm39)	A121D	probably damaging	Het
Or5k8	A	T	16: 58,645,019 (GRCm39)	S18T	probably benign	Het
Or6b13	T	C	7: 139,782,500 (GRCm39)	Y61C	probably damaging	Het
Or7c70	A	T	10: 78,682,897 (GRCm39)	M284K	probably damaging	Het
Or8b9	A	T	9: 37,766,656 (GRCm39)	I181L	probably benign	Het
Pi4ka	A	T	16: 17,143,293 (GRCm39)	Y6N	probably damaging	Het
Polr2g	C	A	19: 8,775,820 (GRCm39)		probably null	Het
Psme3	A	G	11: 101,208,480 (GRCm39)	Q82R	probably benign	Het
Rab11a	G	T	9: 64,633,929 (GRCm39)	T17K	possibly damaging	Het
Rbm12	A	T	2: 155,940,017 (GRCm39)	L85Q	probably damaging	Het
Skap1	A	T	11: 96,599,512 (GRCm39)	Y188F	probably damaging	Het
Tmprss6	A	T	15: 78,326,536 (GRCm39)	F34I	probably damaging	Het
Trip12	A	C	1: 84,771,854 (GRCm39)	I98S	probably benign	Het
Ttn	T	C	2: 76,708,532 (GRCm39)		probably benign	Het
Ube2t	A	T	1: 134,899,079 (GRCm39)	K21*	probably null	Het
Vmn1r216	T	C	13: 23,283,647 (GRCm39)	V110A	possibly damaging	Het
Vmn2r109	A	T	17: 20,761,150 (GRCm39)	F736I	probably benign	Het
Vps13c	A	G	9: 67,845,158 (GRCm39)	T2081A	probably benign	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het

Other mutations in Aqr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Aqr	APN	2	113,956,423 (GRCm39)	missense	possibly damaging	0.90
IGL00694:Aqr	APN	2	113,982,006 (GRCm39)	missense	probably damaging	1.00
IGL02113:Aqr	APN	2	113,950,508 (GRCm39)	nonsense	probably null
IGL02297:Aqr	APN	2	113,980,962 (GRCm39)	missense	probably benign	0.24
IGL02380:Aqr	APN	2	113,940,417 (GRCm39)	missense	probably damaging	1.00
IGL02410:Aqr	APN	2	113,967,398 (GRCm39)	missense	possibly damaging	0.85
IGL02413:Aqr	APN	2	113,949,261 (GRCm39)	missense	possibly damaging	0.87
IGL02941:Aqr	APN	2	113,943,835 (GRCm39)	missense	probably damaging	1.00
IGL02981:Aqr	APN	2	113,965,305 (GRCm39)	splice site	probably benign
IGL03001:Aqr	APN	2	113,977,400 (GRCm39)	missense	probably benign
IGL03092:Aqr	APN	2	113,989,424 (GRCm39)	missense	probably benign	0.38
IGL03222:Aqr	APN	2	113,951,737 (GRCm39)	missense	probably damaging	1.00
capricorn	UTSW	2	113,936,363 (GRCm39)	missense	probably damaging	1.00
Goat	UTSW	2	113,988,056 (GRCm39)	missense	probably damaging	1.00
Pliades	UTSW	2	113,963,457 (GRCm39)	missense	probably damaging	1.00
sagittarius	UTSW	2	113,979,497 (GRCm39)	missense	probably damaging	1.00
Zodiac	UTSW	2	113,938,590 (GRCm39)	missense	probably damaging	0.96
PIT4531001:Aqr	UTSW	2	113,961,215 (GRCm39)	missense	possibly damaging	0.94
R0103:Aqr	UTSW	2	113,979,497 (GRCm39)	missense	probably damaging	1.00
R0103:Aqr	UTSW	2	113,979,497 (GRCm39)	missense	probably damaging	1.00
R0152:Aqr	UTSW	2	113,989,491 (GRCm39)	missense	probably benign	0.07
R0352:Aqr	UTSW	2	114,000,533 (GRCm39)	missense	probably damaging	1.00
R0371:Aqr	UTSW	2	113,988,085 (GRCm39)	missense	possibly damaging	0.80
R0374:Aqr	UTSW	2	113,961,092 (GRCm39)	missense	probably damaging	1.00
R0550:Aqr	UTSW	2	113,963,457 (GRCm39)	missense	probably damaging	1.00
R0604:Aqr	UTSW	2	113,961,085 (GRCm39)	missense	probably benign	0.00
R0685:Aqr	UTSW	2	113,971,458 (GRCm39)	missense	probably damaging	1.00
R1236:Aqr	UTSW	2	113,947,136 (GRCm39)	missense	probably damaging	1.00
R1434:Aqr	UTSW	2	113,980,890 (GRCm39)	missense	probably damaging	1.00
R1806:Aqr	UTSW	2	113,992,133 (GRCm39)	missense	probably damaging	1.00
R2154:Aqr	UTSW	2	113,967,485 (GRCm39)	missense	probably damaging	1.00
R2185:Aqr	UTSW	2	113,961,015 (GRCm39)	critical splice donor site	probably null
R2377:Aqr	UTSW	2	113,971,421 (GRCm39)	missense	possibly damaging	0.58
R2862:Aqr	UTSW	2	113,967,398 (GRCm39)	missense	probably damaging	1.00
R3615:Aqr	UTSW	2	113,967,368 (GRCm39)	missense	probably damaging	1.00
R3616:Aqr	UTSW	2	113,967,368 (GRCm39)	missense	probably damaging	1.00
R3713:Aqr	UTSW	2	113,949,150 (GRCm39)	splice site	probably benign
R3715:Aqr	UTSW	2	113,949,150 (GRCm39)	splice site	probably benign
R4586:Aqr	UTSW	2	113,943,058 (GRCm39)	missense	probably benign	0.06
R4663:Aqr	UTSW	2	113,992,147 (GRCm39)	nonsense	probably null
R4809:Aqr	UTSW	2	114,005,695 (GRCm39)	utr 5 prime	probably benign
R4887:Aqr	UTSW	2	113,980,990 (GRCm39)	missense	probably damaging	1.00
R4888:Aqr	UTSW	2	113,980,990 (GRCm39)	missense	probably damaging	1.00
R4952:Aqr	UTSW	2	113,940,418 (GRCm39)	missense	probably damaging	1.00
R4974:Aqr	UTSW	2	113,943,832 (GRCm39)	missense	probably damaging	1.00
R5050:Aqr	UTSW	2	114,000,506 (GRCm39)	critical splice donor site	probably null
R5050:Aqr	UTSW	2	113,943,090 (GRCm39)	nonsense	probably null
R5213:Aqr	UTSW	2	113,943,808 (GRCm39)	missense	probably damaging	1.00
R5263:Aqr	UTSW	2	113,947,059 (GRCm39)	missense	probably damaging	1.00
R5470:Aqr	UTSW	2	113,988,056 (GRCm39)	missense	probably damaging	1.00
R5488:Aqr	UTSW	2	113,963,554 (GRCm39)	missense	probably damaging	1.00
R5489:Aqr	UTSW	2	113,963,554 (GRCm39)	missense	probably damaging	1.00
R5567:Aqr	UTSW	2	113,979,451 (GRCm39)	missense	probably damaging	1.00
R5570:Aqr	UTSW	2	113,979,451 (GRCm39)	missense	probably damaging	1.00
R5641:Aqr	UTSW	2	113,979,515 (GRCm39)	missense	probably damaging	1.00
R5685:Aqr	UTSW	2	113,986,746 (GRCm39)	missense	possibly damaging	0.87
R5963:Aqr	UTSW	2	113,957,442 (GRCm39)	missense	probably damaging	1.00
R5992:Aqr	UTSW	2	113,973,530 (GRCm39)	nonsense	probably null
R6015:Aqr	UTSW	2	114,005,646 (GRCm39)	start codon destroyed	probably null	0.53
R6253:Aqr	UTSW	2	113,986,758 (GRCm39)	missense	possibly damaging	0.93
R6264:Aqr	UTSW	2	113,940,445 (GRCm39)	missense	probably damaging	1.00
R6773:Aqr	UTSW	2	113,979,477 (GRCm39)	missense	possibly damaging	0.64
R6877:Aqr	UTSW	2	113,947,052 (GRCm39)	nonsense	probably null
R7211:Aqr	UTSW	2	113,965,204 (GRCm39)	missense	probably benign	0.01
R7232:Aqr	UTSW	2	113,936,363 (GRCm39)	missense	probably damaging	1.00
R7308:Aqr	UTSW	2	113,934,543 (GRCm39)	missense	possibly damaging	0.86
R7396:Aqr	UTSW	2	113,950,427 (GRCm39)	nonsense	probably null
R7490:Aqr	UTSW	2	113,989,349 (GRCm39)	critical splice donor site	probably null
R7526:Aqr	UTSW	2	113,938,590 (GRCm39)	missense	probably damaging	0.96
R7629:Aqr	UTSW	2	113,945,074 (GRCm39)	missense	probably damaging	1.00
R7828:Aqr	UTSW	2	113,979,497 (GRCm39)	missense	probably damaging	1.00
R8037:Aqr	UTSW	2	113,992,161 (GRCm39)	missense	probably damaging	1.00
R8166:Aqr	UTSW	2	113,943,806 (GRCm39)	missense	possibly damaging	0.95
R8712:Aqr	UTSW	2	113,949,358 (GRCm39)	missense	probably damaging	1.00
R8904:Aqr	UTSW	2	113,967,474 (GRCm39)	missense	probably damaging	0.98
R9487:Aqr	UTSW	2	113,934,528 (GRCm39)	missense	probably benign	0.04
R9527:Aqr	UTSW	2	113,932,037 (GRCm39)	missense	probably benign	0.02
R9664:Aqr	UTSW	2	113,971,396 (GRCm39)	nonsense	probably null
Z1176:Aqr	UTSW	2	113,940,472 (GRCm39)	missense	probably benign	0.25
Z1176:Aqr	UTSW	2	113,938,603 (GRCm39)	missense	probably damaging	0.98

Posted On

2015-04-16