Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00594:Rgs22'

332746

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 #

IGL00594

Quality Score

Status

Chromosome

Chromosomal Location

36009625-36140546 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36083777 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 515 (H515R)

Ref Sequence

ENSEMBL: ENSMUSP00000134185 (fasta)

Gene Model

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

AlphaFold

G3UYX5

Predicted Effect

unknown
Transcript: ENSMUST00000172737
AA Change: H37R

SMART Domains

Protein: ENSMUSP00000133508
Gene: ENSMUSG00000037627
AA Change: H37R

Domain	Start	End	E-Value	Type
Blast:RGS	231	262	1e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000172831
AA Change: H639R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134259
Gene: ENSMUSG00000037627
AA Change: H639R

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

probably benign
Transcript: ENSMUST00000174881
AA Change: H515R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134185
Gene: ENSMUSG00000037627
AA Change: H515R

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,857,109 (GRCm39)	T154A	probably benign	Het
Acox1	A	G	11: 116,065,331 (GRCm39)		probably benign	Het
Adgrg2	G	A	X: 159,268,773 (GRCm39)	V677I	probably benign	Het
Aifm1	T	C	X: 47,570,976 (GRCm39)	T386A	probably benign	Het
Aspm	T	C	1: 139,415,160 (GRCm39)		probably benign	Het
Fgfr2	A	G	7: 129,830,453 (GRCm39)	V175A	probably damaging	Het
Gm382	T	C	X: 125,970,775 (GRCm39)	Y987H	probably benign	Het
Golga3	A	T	5: 110,352,841 (GRCm39)	M911L	probably benign	Het
Hmgxb3	A	G	18: 61,290,811 (GRCm39)	V354A	probably benign	Het
Ifne	T	C	4: 88,798,041 (GRCm39)	N126D	probably benign	Het
Igkv3-7	T	C	6: 70,584,807 (GRCm39)	V49A	possibly damaging	Het
Kbtbd8	A	T	6: 95,103,494 (GRCm39)	Y381F	probably damaging	Het
Klc1	C	T	12: 111,743,318 (GRCm39)	T215M	probably damaging	Het
Lrp2	A	T	2: 69,316,624 (GRCm39)	V2119E	probably benign	Het
Lrrc7	A	G	3: 157,892,647 (GRCm39)	V322A	probably benign	Het
Mageb5b	C	T	X: 90,679,091 (GRCm39)	Q348*	probably null	Het
Ms4a14	A	G	19: 11,278,983 (GRCm39)	S1192P	possibly damaging	Het
Ndufaf6	T	C	4: 11,062,127 (GRCm39)	Y168C	probably damaging	Het
Plcg2	C	T	8: 118,282,810 (GRCm39)	T97I	possibly damaging	Het
Rasgrp4	T	C	7: 28,847,966 (GRCm39)		probably benign	Het
Rpn1	G	T	6: 88,072,611 (GRCm39)	R318L	probably damaging	Het
Shroom2	A	T	X: 151,396,512 (GRCm39)	F1359Y	probably damaging	Het
Tars3	T	A	7: 65,325,880 (GRCm39)		probably null	Het
Tbc1d12	A	G	19: 38,884,487 (GRCm39)	E346G	possibly damaging	Het
Tbccd1	A	G	16: 22,641,294 (GRCm39)	F361S	possibly damaging	Het
Tenm1	G	T	X: 41,803,913 (GRCm39)	P837T	probably benign	Het
Tmem144	A	G	3: 79,746,474 (GRCm39)	V27A	probably benign	Het
Zfp616	T	A	11: 73,973,789 (GRCm39)	N19K	possibly damaging	Het
Zkscan7	T	C	9: 122,724,659 (GRCm39)	Y543H	possibly damaging	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
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
IGL02045:Rgs22	APN	15	36,013,300 (GRCm39)	missense	probably benign	0.33
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

2015-08-05