Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02045:Rgs22'

184918

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rgs22

Ensembl Gene

ENSMUSG00000037627

Gene Name

regulator of G-protein signalling 22

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02045

Quality Score

Status

Chromosome

Chromosomal Location

36009625-36140546 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36013300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1048 (A1048V)

Ref Sequence

ENSEMBL: ENSMUSP00000134185 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172831] [ENSMUST00000174881]

AlphaFold

G3UYX5

Predicted Effect

probably benign
Transcript: ENSMUST00000172831
AA Change: A1172V

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: A1172V

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
low complexity region	62	76	N/A	INTRINSIC
low complexity region	173	179	N/A	INTRINSIC
low complexity region	376	391	N/A	INTRINSIC
RGS	845	973	3.15e-2	SMART
RGS	1014	1134	1.56e-15	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000173018
AA Change: A161V

SMART Domains

Protein: ENSMUSP00000133703
Gene: ENSMUSG00000037627
AA Change: A161V

Domain	Start	End	E-Value	Type
RGS	4	124	1.56e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174881
AA Change: A1048V

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134185
Gene: ENSMUSG00000037627
AA Change: A1048V

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
low complexity region	252	267	N/A	INTRINSIC
RGS	721	849	3.15e-2	SMART
RGS	890	1010	1.56e-15	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	A	5: 114,378,721 (GRCm39)	H2044Q	possibly damaging	Het
Ankrd12	A	T	17: 66,293,244 (GRCm39)	S730T	probably benign	Het
Ano9	A	T	7: 140,682,382 (GRCm39)	N655K	probably benign	Het
Ap1ar	A	T	3: 127,609,298 (GRCm39)	Y108N	probably damaging	Het
Asap3	A	G	4: 135,954,752 (GRCm39)	I55V	probably benign	Het
Barx2	T	C	9: 31,770,094 (GRCm39)	T145A	probably damaging	Het
Camta1	T	C	4: 151,158,442 (GRCm39)		probably null	Het
Ces2e	C	T	8: 105,657,290 (GRCm39)		probably benign	Het
Cflar	T	C	1: 58,791,903 (GRCm39)	I405T	probably benign	Het
Cibar2	T	A	8: 120,896,461 (GRCm39)	K174*	probably null	Het
Cyp51	A	G	5: 4,133,247 (GRCm39)	S464P	probably damaging	Het
Ermard	G	A	17: 15,271,826 (GRCm39)		probably benign	Het
Glb1l2	T	C	9: 26,707,841 (GRCm39)	T49A	probably benign	Het
Gls	A	G	1: 52,258,674 (GRCm39)	V198A	probably benign	Het
Heatr5b	A	T	17: 79,115,855 (GRCm39)	I867N	probably damaging	Het
Ighv1-14	A	T	12: 114,610,334 (GRCm39)		noncoding transcript	Het
Iqsec1	T	C	6: 90,641,051 (GRCm39)	K1022E	probably damaging	Het
Myo10	A	G	15: 25,726,574 (GRCm39)	T299A	probably benign	Het
Nr2e3	A	T	9: 59,856,291 (GRCm39)	M82K	probably benign	Het
Ntpcr	A	G	8: 126,472,191 (GRCm39)		probably benign	Het
Or1e26	A	G	11: 73,480,058 (GRCm39)	C169R	probably damaging	Het
Or4d10b	T	C	19: 12,036,253 (GRCm39)	T288A	possibly damaging	Het
Or52s6	A	G	7: 103,092,159 (GRCm39)	L57P	probably damaging	Het
Or5p80	A	G	7: 108,229,739 (GRCm39)	D180G	probably damaging	Het
Or6c70	A	T	10: 129,710,091 (GRCm39)	D178E	probably benign	Het
Prkcb	A	G	7: 122,189,390 (GRCm39)	D506G	probably damaging	Het
Rasgef1a	A	G	6: 118,066,404 (GRCm39)	I470V	probably benign	Het
Rbm27	A	G	18: 42,452,978 (GRCm39)	E514G	possibly damaging	Het
Secisbp2l	A	G	2: 125,617,498 (GRCm39)	F60L	possibly damaging	Het
Six4	T	C	12: 73,155,429 (GRCm39)	S505G	probably benign	Het
Skint1	T	A	4: 111,882,727 (GRCm39)	V257E	possibly damaging	Het
Smad9	A	G	3: 54,693,593 (GRCm39)	N174S	possibly damaging	Het
Smc2	A	G	4: 52,462,914 (GRCm39)	N635D	probably benign	Het
Stradb	T	A	1: 59,028,937 (GRCm39)	I135N	probably damaging	Het
Syt12	T	C	19: 4,497,762 (GRCm39)	T407A	probably damaging	Het
Tmc8	T	A	11: 117,677,346 (GRCm39)	I322N	probably damaging	Het
Tnip1	A	C	11: 54,802,365 (GRCm39)	*648G	probably null	Het
Ttc3	T	C	16: 94,210,540 (GRCm39)		probably benign	Het

Other mutations in Rgs22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00164:Rgs22	APN	15	36,100,077 (GRCm39)	missense	possibly damaging	0.93
IGL00594:Rgs22	APN	15	36,083,777 (GRCm39)	missense	probably benign	0.00
IGL01464:Rgs22	APN	15	36,083,787 (GRCm39)	missense	possibly damaging	0.90
IGL01686:Rgs22	APN	15	36,103,981 (GRCm39)	missense	probably benign	0.00
IGL01761:Rgs22	APN	15	36,103,897 (GRCm39)	missense	probably damaging	0.99
IGL02378:Rgs22	APN	15	36,103,951 (GRCm39)	missense	probably benign	0.00
IGL02490:Rgs22	APN	15	36,054,993 (GRCm39)	missense	probably damaging	1.00
IGL03219:Rgs22	APN	15	36,107,194 (GRCm39)	missense	probably damaging	1.00
IGL03229:Rgs22	APN	15	36,015,925 (GRCm39)	splice site	probably benign
IGL03328:Rgs22	APN	15	36,043,350 (GRCm39)	critical splice donor site	probably null
3-1:Rgs22	UTSW	15	36,100,182 (GRCm39)	missense	possibly damaging	0.48
R0254:Rgs22	UTSW	15	36,104,698 (GRCm39)	missense	probably damaging	0.99
R0463:Rgs22	UTSW	15	36,093,084 (GRCm39)	missense	probably damaging	1.00
R0467:Rgs22	UTSW	15	36,099,941 (GRCm39)	nonsense	probably null
R0486:Rgs22	UTSW	15	36,093,028 (GRCm39)	missense	probably damaging	0.98
R0554:Rgs22	UTSW	15	36,054,855 (GRCm39)	missense	probably benign	0.10
R0602:Rgs22	UTSW	15	36,140,018 (GRCm39)	splice site	probably benign
R0906:Rgs22	UTSW	15	36,104,048 (GRCm39)	intron	probably benign
R1159:Rgs22	UTSW	15	36,040,839 (GRCm39)	missense	probably damaging	1.00
R1300:Rgs22	UTSW	15	36,101,908 (GRCm39)	missense	probably benign	0.43
R1439:Rgs22	UTSW	15	36,025,939 (GRCm39)	splice site	probably benign
R1491:Rgs22	UTSW	15	36,093,047 (GRCm39)	missense	probably damaging	0.98
R1502:Rgs22	UTSW	15	36,080,997 (GRCm39)	missense	probably damaging	1.00
R1514:Rgs22	UTSW	15	36,013,246 (GRCm39)	missense	probably benign	0.00
R1538:Rgs22	UTSW	15	36,048,922 (GRCm39)	missense	probably damaging	1.00
R1784:Rgs22	UTSW	15	36,087,582 (GRCm39)	missense	probably damaging	1.00
R1938:Rgs22	UTSW	15	36,101,950 (GRCm39)	missense	probably benign	0.00
R1972:Rgs22	UTSW	15	36,103,982 (GRCm39)	missense	probably benign	0.01
R2109:Rgs22	UTSW	15	36,099,880 (GRCm39)	nonsense	probably null
R2208:Rgs22	UTSW	15	36,050,378 (GRCm39)	missense	probably benign	0.01
R3696:Rgs22	UTSW	15	36,100,038 (GRCm39)	missense	probably benign	0.00
R3697:Rgs22	UTSW	15	36,100,038 (GRCm39)	missense	probably benign	0.00
R3698:Rgs22	UTSW	15	36,100,038 (GRCm39)	missense	probably benign	0.00
R3879:Rgs22	UTSW	15	36,107,051 (GRCm39)	missense	possibly damaging	0.52
R4080:Rgs22	UTSW	15	36,107,222 (GRCm39)	missense	probably damaging	1.00
R4363:Rgs22	UTSW	15	36,104,020 (GRCm39)	missense	probably damaging	0.99
R4591:Rgs22	UTSW	15	36,100,282 (GRCm39)	missense	probably benign	0.01
R4673:Rgs22	UTSW	15	36,100,079 (GRCm39)	missense	probably benign	0.04
R4829:Rgs22	UTSW	15	36,104,034 (GRCm39)	missense	probably damaging	1.00
R4831:Rgs22	UTSW	15	36,050,294 (GRCm39)	missense	probably benign	0.00
R4865:Rgs22	UTSW	15	36,100,358 (GRCm39)	missense	probably damaging	1.00
R4907:Rgs22	UTSW	15	36,087,570 (GRCm39)	missense	possibly damaging	0.61
R4944:Rgs22	UTSW	15	36,026,088 (GRCm39)	missense	possibly damaging	0.83
R4975:Rgs22	UTSW	15	36,055,022 (GRCm39)	nonsense	probably null
R5056:Rgs22	UTSW	15	36,050,391 (GRCm39)	splice site	probably null
R5126:Rgs22	UTSW	15	36,040,790 (GRCm39)	missense	probably damaging	0.96
R5138:Rgs22	UTSW	15	36,099,934 (GRCm39)	missense	probably benign	0.04
R5444:Rgs22	UTSW	15	36,015,773 (GRCm39)	missense	possibly damaging	0.83
R5507:Rgs22	UTSW	15	36,099,798 (GRCm39)	missense	probably damaging	0.99
R5640:Rgs22	UTSW	15	36,107,101 (GRCm39)	missense	probably benign	0.00
R5969:Rgs22	UTSW	15	36,015,782 (GRCm39)	missense	probably benign	0.00
R6005:Rgs22	UTSW	15	36,010,713 (GRCm39)	missense	probably benign	0.39
R6053:Rgs22	UTSW	15	36,100,153 (GRCm39)	missense	probably benign	0.04
R6134:Rgs22	UTSW	15	36,107,194 (GRCm39)	missense	probably damaging	1.00
R6230:Rgs22	UTSW	15	36,100,176 (GRCm39)	missense	probably benign	0.02
R6295:Rgs22	UTSW	15	36,087,520 (GRCm39)	missense	probably benign	0.00
R6352:Rgs22	UTSW	15	36,093,067 (GRCm39)	missense	probably damaging	1.00
R6809:Rgs22	UTSW	15	36,048,910 (GRCm39)	missense	probably damaging	1.00
R6900:Rgs22	UTSW	15	36,010,893 (GRCm39)	missense	possibly damaging	0.61
R6947:Rgs22	UTSW	15	36,104,036 (GRCm39)	critical splice acceptor site	probably null
R7102:Rgs22	UTSW	15	36,122,459 (GRCm39)	missense	probably damaging	1.00
R7126:Rgs22	UTSW	15	36,103,954 (GRCm39)	missense	probably damaging	0.97
R7263:Rgs22	UTSW	15	36,015,789 (GRCm39)	missense	possibly damaging	0.86
R7623:Rgs22	UTSW	15	36,040,856 (GRCm39)	missense	probably benign	0.08
R7732:Rgs22	UTSW	15	36,026,127 (GRCm39)	missense	probably damaging	1.00
R7748:Rgs22	UTSW	15	36,122,415 (GRCm39)	critical splice donor site	probably null
R7771:Rgs22	UTSW	15	36,050,224 (GRCm39)	missense	possibly damaging	0.94
R7835:Rgs22	UTSW	15	36,082,057 (GRCm39)	critical splice donor site	probably null
R7849:Rgs22	UTSW	15	36,099,858 (GRCm39)	missense	probably damaging	1.00
R7954:Rgs22	UTSW	15	36,082,148 (GRCm39)	missense	possibly damaging	0.75
R8384:Rgs22	UTSW	15	36,046,158 (GRCm39)	critical splice donor site	probably null
R8516:Rgs22	UTSW	15	36,010,481 (GRCm39)	makesense	probably null
R8904:Rgs22	UTSW	15	36,026,127 (GRCm39)	missense	probably damaging	1.00
R8923:Rgs22	UTSW	15	36,093,106 (GRCm39)	missense	probably damaging	1.00
R9287:Rgs22	UTSW	15	36,098,409 (GRCm39)	missense	probably damaging	1.00
R9324:Rgs22	UTSW	15	36,087,544 (GRCm39)	missense	probably benign
R9660:Rgs22	UTSW	15	36,040,856 (GRCm39)	missense	probably benign	0.08
R9679:Rgs22	UTSW	15	36,087,587 (GRCm39)	missense	probably benign	0.00
R9728:Rgs22	UTSW	15	36,040,856 (GRCm39)	missense	probably benign	0.08
RF035:Rgs22	UTSW	15	36,010,981 (GRCm39)	critical splice acceptor site	probably benign
RF043:Rgs22	UTSW	15	36,010,982 (GRCm39)	critical splice acceptor site	probably benign

Posted On

2014-05-07