Mutagenetix > Incidental Mutation

Incidental Mutation 'R9486:Ace3'

716605

Institutional Source

Beutler Lab

Gene Symbol

Ace3

Ensembl Gene

ENSMUSG00000101605

Gene Name

angiotensin I converting enzyme 3

Synonyms

EG217246

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R9486 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105885501-105896269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105896219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 722 (T722S)

Ref Sequence

ENSEMBL: ENSMUSP00000140827 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001965] [ENSMUST00000106903] [ENSMUST00000145539] [ENSMUST00000190995]

AlphaFold

D0G895

Predicted Effect

probably benign
Transcript: ENSMUST00000001965

SMART Domains

Protein: ENSMUSP00000001965
Gene: ENSMUSG00000001901

Domain	Start	End	E-Value	Type
Blast:PAS	13	87	2e-43	BLAST
PAC	93	135	4.06e-2	SMART
low complexity region	139	152	N/A	INTRINSIC
low complexity region	158	173	N/A	INTRINSIC
Pfam:Ion_trans	256	523	6.8e-40	PFAM
Pfam:Ion_trans_2	445	517	2.6e-13	PFAM
cNMP	594	712	3.21e-23	SMART
coiled coil region	782	809	N/A	INTRINSIC
low complexity region	901	912	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106903

SMART Domains

Protein: ENSMUSP00000102516
Gene: ENSMUSG00000001901

Domain	Start	End	E-Value	Type
Blast:PAS	13	87	3e-43	BLAST
PAC	93	135	4.06e-2	SMART
low complexity region	139	152	N/A	INTRINSIC
low complexity region	158	173	N/A	INTRINSIC
transmembrane domain	258	280	N/A	INTRINSIC
Pfam:Ion_trans	302	420	6.2e-10	PFAM
Pfam:Ion_trans_2	395	464	2.6e-9	PFAM
cNMP	541	659	3.21e-23	SMART
coiled coil region	729	756	N/A	INTRINSIC
low complexity region	848	859	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145539

SMART Domains

Protein: ENSMUSP00000137675
Gene: ENSMUSG00000001901

Domain	Start	End	E-Value	Type
Blast:PAS	13	87	3e-43	BLAST
PAC	93	135	4.06e-2	SMART
low complexity region	139	152	N/A	INTRINSIC
low complexity region	158	173	N/A	INTRINSIC
transmembrane domain	261	283	N/A	INTRINSIC
Pfam:Ion_trans	302	511	1.4e-22	PFAM
Pfam:Ion_trans_2	442	517	2e-13	PFAM
cNMP	594	712	3.21e-23	SMART
low complexity region	764	775	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000190995
AA Change: T722S

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000140827
Gene: ENSMUSG00000101605
AA Change: T722S

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:Peptidase_M2	25	616	2e-265	PFAM
transmembrane domain	638	660	N/A	INTRINSIC
transmembrane domain	700	722	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Male mice homozygous for a knock-out allele exhibit normal sperm number, motility, and fertilization ability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,546,942 (GRCm39)	F396L	probably damaging	Het
Abca13	T	C	11: 9,240,621 (GRCm39)	I828T	possibly damaging	Het
Acot2	A	G	12: 84,039,426 (GRCm39)	T312A	probably benign	Het
Adra2a	A	G	19: 54,035,963 (GRCm39)	I440V	probably damaging	Het
Arhgap22	T	A	14: 33,073,303 (GRCm39)	M4K	probably benign	Het
Atp8b3	C	T	10: 80,366,821 (GRCm39)	C259Y	probably damaging	Het
Bcl2	T	A	1: 106,471,109 (GRCm39)	Y199F	probably benign	Het
Brca1	A	T	11: 101,414,520 (GRCm39)	C1205S	probably benign	Het
Col7a1	T	C	9: 108,811,396 (GRCm39)	V2743A	unknown	Het
Crybg1	A	G	10: 43,880,145 (GRCm39)		probably benign	Het
Cyp2c40	T	A	19: 39,755,808 (GRCm39)	H502L	probably benign	Het
Cyp2c40	A	T	19: 39,796,050 (GRCm39)	Y109*	probably null	Het
Cyp4a29	T	C	4: 115,106,916 (GRCm39)	M191T	probably damaging	Het
Dcaf1	A	G	9: 106,735,916 (GRCm39)	R955G	possibly damaging	Het
Dcaf4	G	T	12: 83,582,726 (GRCm39)	A274S	probably damaging	Het
Dlx1	A	G	2: 71,362,828 (GRCm39)	H245R	probably damaging	Het
Dnah14	A	G	1: 181,508,494 (GRCm39)	N1891D	possibly damaging	Het
Dock10	A	T	1: 80,479,452 (GRCm39)	V2167D	unknown	Het
Epyc	A	G	10: 97,511,697 (GRCm39)	Q230R	probably benign	Het
Etnk1	G	A	6: 143,130,310 (GRCm39)	R143H	probably damaging	Het
Fhip2b	T	C	14: 70,826,479 (GRCm39)	D203G	probably benign	Het
Fmo2	T	C	1: 162,708,292 (GRCm39)	E281G	probably damaging	Het
Gm2042	T	A	12: 87,925,963 (GRCm39)	Y304N	possibly damaging	Het
Hecw2	T	C	1: 53,852,466 (GRCm39)	D1551G	probably damaging	Het
Hgd	A	T	16: 37,413,811 (GRCm39)	D91V	probably benign	Het
Hspa12a	A	G	19: 58,797,891 (GRCm39)	F276L	probably benign	Het
Ifitm10	C	T	7: 141,909,812 (GRCm39)	V95M	probably damaging	Het
Ints3	G	A	3: 90,313,579 (GRCm39)	R350*	probably null	Het
Kdm4c	T	A	4: 74,252,966 (GRCm39)	I511K	probably benign	Het
Kif27	A	G	13: 58,492,348 (GRCm39)	S264P	probably damaging	Het
L1td1	A	G	4: 98,624,899 (GRCm39)	T365A	probably benign	Het
Ltbp2	T	A	12: 84,878,648 (GRCm39)	T304S	possibly damaging	Het
Mamdc4	T	A	2: 25,455,164 (GRCm39)	Y962F	probably benign	Het
Map3k4	C	T	17: 12,489,860 (GRCm39)	A524T	probably damaging	Het
Mfsd8	C	T	3: 40,789,627 (GRCm39)	R140H	probably damaging	Het
Mmp3	A	G	9: 7,451,256 (GRCm39)	I331V	possibly damaging	Het
Mpdz	T	A	4: 81,254,043 (GRCm39)	I1030F	probably damaging	Het
Mtx1	A	T	3: 89,120,163 (GRCm39)	C62S		Het
Muc20	A	T	16: 32,615,248 (GRCm39)	V43E	possibly damaging	Het
Naa25	A	G	5: 121,577,958 (GRCm39)	E955G	probably damaging	Het
Nelfcd	A	G	2: 174,268,635 (GRCm39)	Y562C	probably damaging	Het
Nsd2	T	A	5: 34,018,493 (GRCm39)	M509K	probably benign	Het
Obscn	T	C	11: 58,918,272 (GRCm39)	T207A		Het
Or1ad1	T	A	11: 50,875,691 (GRCm39)	H54Q	possibly damaging	Het
Or4a39	C	T	2: 89,236,959 (GRCm39)	V155M	possibly damaging	Het
Or4k5	T	A	14: 50,385,672 (GRCm39)	I220L	probably benign	Het
Osbpl11	A	T	16: 33,006,283 (GRCm39)	N37I	possibly damaging	Het
Pcdh9	A	G	14: 93,797,956 (GRCm39)	S1032P	possibly damaging	Het
Pde6b	T	A	5: 108,551,241 (GRCm39)	I175N	probably damaging	Het
Pfkl	T	A	10: 77,824,184 (GRCm39)	M735L	probably benign	Het
Pkp4	T	C	2: 59,138,722 (GRCm39)	V324A	probably benign	Het
Ptprb	T	A	10: 116,155,494 (GRCm39)	C462*	probably null	Het
Rasal3	T	C	17: 32,617,910 (GRCm39)	N221S	probably benign	Het
Reep1	A	T	6: 71,684,969 (GRCm39)	I6F	probably benign	Het
Rhobtb1	T	A	10: 69,106,621 (GRCm39)	F457L	probably damaging	Het
Ryr1	T	C	7: 28,777,965 (GRCm39)	N2184S	probably benign	Het
Scn11a	T	G	9: 119,624,774 (GRCm39)	H516P	possibly damaging	Het
Sipa1l1	T	C	12: 82,404,139 (GRCm39)		probably null	Het
Slc17a7	A	G	7: 44,821,606 (GRCm39)	N381S	possibly damaging	Het
Slc38a3	C	T	9: 107,536,322 (GRCm39)	V25M	probably benign	Het
Spag1	T	G	15: 36,181,954 (GRCm39)	D37E	probably damaging	Het
Spib	G	T	7: 44,178,815 (GRCm39)	D114E	possibly damaging	Het
Tpx2	A	T	2: 152,726,933 (GRCm39)	Y400F	probably damaging	Het
Trhde	A	G	10: 114,532,014 (GRCm39)	I362T	possibly damaging	Het
Usp17ld	C	T	7: 102,899,381 (GRCm39)	G517E	probably benign	Het
Vmn1r22	A	T	6: 57,877,404 (GRCm39)	M191K	probably damaging	Het
Wdr6	G	A	9: 108,453,182 (GRCm39)	R234C	probably damaging	Het
Zdhhc22	C	T	12: 87,030,398 (GRCm39)	M183I	probably benign	Het
Zfp1007	C	A	5: 109,824,062 (GRCm39)	G463*	probably null	Het
Zfp949	C	A	9: 88,452,182 (GRCm39)	T584N	probably benign	Het

Other mutations in Ace3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1932:Ace3	UTSW	11	105,895,436 (GRCm39)	critical splice donor site	probably null
R4074:Ace3	UTSW	11	105,888,040 (GRCm39)	missense	probably damaging	1.00
R4415:Ace3	UTSW	11	105,895,947 (GRCm39)	missense	probably benign	0.11
R5315:Ace3	UTSW	11	105,885,747 (GRCm39)	missense	probably benign	0.00
R5325:Ace3	UTSW	11	105,896,079 (GRCm39)	missense	probably benign
R5846:Ace3	UTSW	11	105,889,188 (GRCm39)	missense	probably benign	0.06
R5866:Ace3	UTSW	11	105,888,330 (GRCm39)	missense	probably damaging	0.99
R6122:Ace3	UTSW	11	105,885,764 (GRCm39)	missense	probably benign	0.08
R6160:Ace3	UTSW	11	105,885,558 (GRCm39)	missense	possibly damaging	0.51
R6815:Ace3	UTSW	11	105,888,084 (GRCm39)	nonsense	probably null
R8031:Ace3	UTSW	11	105,888,924 (GRCm39)	critical splice donor site	probably null
R8179:Ace3	UTSW	11	105,895,383 (GRCm39)	missense	probably benign	0.15
R8349:Ace3	UTSW	11	105,885,768 (GRCm39)	missense	probably damaging	1.00
R8449:Ace3	UTSW	11	105,885,768 (GRCm39)	missense	probably damaging	1.00
R8679:Ace3	UTSW	11	105,886,701 (GRCm39)	missense	probably benign	0.00
R8780:Ace3	UTSW	11	105,888,364 (GRCm39)	missense	probably damaging	1.00
R8839:Ace3	UTSW	11	105,889,194 (GRCm39)	missense	probably damaging	1.00
R8965:Ace3	UTSW	11	105,896,175 (GRCm39)	missense	probably benign
R9287:Ace3	UTSW	11	105,888,246 (GRCm39)	missense	probably damaging	1.00
R9457:Ace3	UTSW	11	105,885,687 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CATGTTGGTCCTCATCCTGG -3'
(R):5'- TACAGTCACAGATCTGCCACAG -3'

Sequencing Primer
(F):5'- TTCAGGCTGCACTACTTGGAAAAAC -3'
(R):5'- GATCTGCCACAGCTGCAC -3'

Posted On

2022-07-18