Mutagenetix > Incidental Mutation

Incidental Mutation 'R4884:Gm572'

375517

Institutional Source

Beutler Lab

Gene Symbol

Gm572

Ensembl Gene

ENSMUSG00000070577

Gene Name

predicted gene 572

Synonyms

b2b1167Clo, LOC230909

MMRRC Submission

041978-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4884 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

148643317-148671572 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 148667362 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 228 (T228N)

Ref Sequence

ENSEMBL: ENSMUSP00000101323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105698]

AlphaFold

B1ARY8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105698
AA Change: T228N

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101323
Gene: ENSMUSG00000070577
AA Change: T228N

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:DUF4556	144	358	1.9e-117	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.5%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced allele show cardiovascular defects including double outlet right ventricle, dextrocardia and atrioventricular septal defects, heterotaxia with situs inversus totalis and right pulmonary isomerism, spleen hypoplasia, mid-line liver, and immotile respiratory cilia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	T	6: 96,164,812	M417K	probably damaging	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4930452B06Rik	G	A	14: 8,578,394	T116I	probably damaging	Het
Aadat	C	T	8: 60,526,629	P175L	probably damaging	Het
Acot7	G	T	4: 152,186,207		probably benign	Het
Adad1	T	G	3: 37,076,664	F259V	possibly damaging	Het
Adora2a	A	G	10: 75,326,045	Y6C	probably null	Het
Ahnak	A	G	19: 9,012,754		probably benign	Het
Ankar	A	T	1: 72,698,807	M72K	probably damaging	Het
Ankrd45	A	G	1: 161,160,700	K176R	possibly damaging	Het
Ap3m2	T	C	8: 22,803,981	K18E	probably damaging	Het
Apol10b	C	T	15: 77,588,806	R16Q	possibly damaging	Het
Atp2b2	T	A	6: 113,842,186	T49S	possibly damaging	Het
B3gntl1	T	G	11: 121,629,969	Y206S	possibly damaging	Het
BC061237	G	A	14: 44,501,209	E22K	possibly damaging	Het
Bmp1	A	G	14: 70,475,215	V959A	probably benign	Het
C530008M17Rik	A	T	5: 76,848,835	I47F	probably damaging	Het
Cep295	T	C	9: 15,351,760	E169G	probably damaging	Het
Cfap65	T	G	1: 74,903,124	E1757A	possibly damaging	Het
Cgrrf1	T	A	14: 46,853,455	I216N	possibly damaging	Het
Clstn2	T	A	9: 97,799,395	D64V	probably damaging	Het
Col27a1	T	A	4: 63,275,960	D851E	possibly damaging	Het
Coq9	C	T	8: 94,853,194	P259L	probably benign	Het
Cps1	A	G	1: 67,177,024	N836S	probably benign	Het
Crebbp	T	C	16: 4,088,375	K1588E	probably damaging	Het
Cspg4	T	C	9: 56,898,069	W2055R	probably benign	Het
Cyp3a44	A	T	5: 145,777,982	M453K	probably damaging	Het
Dhx36	T	G	3: 62,484,260	D555A	probably damaging	Het
Dock2	A	T	11: 34,266,248	Y1219N	probably damaging	Het
Dpy19l2	A	T	9: 24,628,180	C492*	probably null	Het
Dusp22	A	G	13: 30,668,830	N16S	probably benign	Het
Epha1	A	G	6: 42,360,734	M805T	probably damaging	Het
Espl1	C	T	15: 102,324,070	A2071V	possibly damaging	Het
Fam160a1	A	C	3: 85,683,611	C178G	probably damaging	Het
Fbxo11	T	A	17: 87,992,333	D863V	probably damaging	Het
Fbxo7	T	A	10: 86,029,150	Y106N	probably damaging	Het
Fst	A	G	13: 114,454,384	V282A	probably damaging	Het
Gfra3	T	A	18: 34,711,251	M79L	probably benign	Het
Glp1r	T	C	17: 30,936,266	V409A	probably damaging	Het
Gm10799	T	A	2: 104,068,207	D51V	probably damaging	Het
Grip1	C	T	10: 120,075,306	T643M	probably damaging	Het
Hdgfl2	C	T	17: 56,096,265	R222C	possibly damaging	Het
Hecw2	T	A	1: 53,950,841	I125F	probably benign	Het
Hipk1	A	G	3: 103,744,022	S1153P	possibly damaging	Het
Insm2	T	C	12: 55,599,761	S97P	probably damaging	Het
Iqca	A	G	1: 90,140,037	V164A	probably benign	Het
Kcna6	T	C	6: 126,738,726	D400G	probably benign	Het
Kctd1	T	C	18: 14,974,254	Y122C	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klra2	T	C	6: 131,230,202	Y148C	probably damaging	Het
Krtap31-1	G	A	11: 99,908,484	C171Y	unknown	Het
Ldlrap1	C	T	4: 134,758,971	R59Q	probably benign	Het
Ltb	T	C	17: 35,195,258	I3T	probably benign	Het
Macf1	T	C	4: 123,455,009	I2477V	probably benign	Het
Mpdz	A	T	4: 81,361,476	I39N	probably damaging	Het
Mycbp2	A	G	14: 103,211,295	I1776T	probably damaging	Het
Myof	T	A	19: 37,942,357	E994V	probably damaging	Het
Myom3	A	G	4: 135,783,055	E553G	possibly damaging	Het
Mysm1	A	T	4: 94,958,948	C504S	probably damaging	Het
Nectin3	A	T	16: 46,448,886	H384Q	probably benign	Het
Net1	G	A	13: 3,884,252	R482*	probably null	Het
Nit1	T	C	1: 171,343,695	K193R	probably null	Het
Nlgn1	A	G	3: 25,912,674	V205A	probably damaging	Het
Nr3c2	A	T	8: 76,908,809	I180F	possibly damaging	Het
Nup62	T	A	7: 44,828,865	S101R	probably damaging	Het
Olfr1264	A	G	2: 90,021,643	V141A	probably benign	Het
Olfr1465	A	T	19: 13,313,670	I205N	probably benign	Het
Olfr1489	A	T	19: 13,634,027	K305N	probably benign	Het
Olfr155	T	C	4: 43,854,890	S194P	probably damaging	Het
Olfr355	G	T	2: 36,928,012	T34K	possibly damaging	Het
Olfr508	A	T	7: 108,630,612	I207F	probably damaging	Het
Olfr64	T	A	7: 103,893,655	I27F	probably benign	Het
Olfr663	T	A	7: 104,703,861	I98N	probably damaging	Het
Osbpl6	A	T	2: 76,549,539	I158F	probably damaging	Het
Pcbp4	A	G	9: 106,462,102	T103A	probably benign	Het
Pcdha2	T	A	18: 36,940,900	L528Q	probably damaging	Het
Pcdhga5	T	C	18: 37,694,627	S43P	probably damaging	Het
Pdgfra	C	A	5: 75,189,312	N952K	probably benign	Het
Pla2r1	A	G	2: 60,534,984	S81P	probably damaging	Het
Ppp1r32	A	T	19: 10,474,501	*428R	probably null	Het
Rabggtb	A	T	3: 153,911,931	D43E	possibly damaging	Het
Rexo5	T	A	7: 119,825,551	C43*	probably null	Het
Robo1	T	A	16: 72,904,751	D168E	probably damaging	Het
Scimp	A	G	11: 70,798,039	M49T	unknown	Het
Sema3e	T	A	5: 14,225,565	V228E	probably damaging	Het
Sema6d	A	G	2: 124,656,818		probably null	Het
Serpinb6d	A	T	13: 33,666,445	D85V	possibly damaging	Het
Slc24a2	C	T	4: 86,991,508	V658I	probably damaging	Het
Snd1	T	C	6: 28,526,912	I198T	possibly damaging	Het
Snx33	C	T	9: 56,926,180	V202M	probably damaging	Het
Soga3	A	T	10: 29,196,541	N610Y	probably damaging	Het
Srcap	A	G	7: 127,522,017	E174G	probably damaging	Het
Srgap2	C	A	1: 131,292,576		probably null	Het
Stxbp5	A	T	10: 9,812,341	Y405*	probably null	Het
Thsd4	C	T	9: 59,988,037	R710H	probably benign	Het
Trp53inp1	T	A	4: 11,165,130	D51E	probably benign	Het
Ttc41	A	G	10: 86,731,018	D516G	probably benign	Het
Uap1l1	A	G	2: 25,362,828	V400A	probably damaging	Het
Vit	T	C	17: 78,624,753	S430P	probably damaging	Het
Vmn1r9	T	A	6: 57,071,309	M123K	possibly damaging	Het
Vmn2r14	A	T	5: 109,221,518		probably null	Het
Vwa3a	A	G	7: 120,791,701	T746A	probably benign	Het
Wdfy4	G	T	14: 32,988,895	Y2578*	probably null	Het
Wdr53	A	T	16: 32,256,978	K334*	probably null	Het
Xpot	G	T	10: 121,606,808	H495Q	probably damaging	Het
Zcchc6	A	T	13: 59,789,452	L775H	probably damaging	Het
Zfp109	T	C	7: 24,229,145	T288A	probably benign	Het
Zfp277	T	A	12: 40,363,153	E276V	probably damaging	Het
Zfp703	A	G	8: 26,978,701	D131G	probably benign	Het
Zfp985	T	A	4: 147,583,344	I223N	probably benign	Het
Zrsr1	T	C	11: 22,973,805	V193A	possibly damaging	Het
Zscan20	A	G	4: 128,588,165	I568T	possibly damaging	Het

Other mutations in Gm572

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00472:Gm572	APN	4	148667392	missense	possibly damaging	0.93
IGL01766:Gm572	APN	4	148654895	missense	possibly damaging	0.53
IGL02670:Gm572	APN	4	148651228	missense	probably benign
IGL02716:Gm572	APN	4	148654870	missense	probably benign	0.01
PIT1430001:Gm572	UTSW	4	148671393	missense	unknown
R1346:Gm572	UTSW	4	148654897	missense	possibly damaging	0.96
R1546:Gm572	UTSW	4	148666819	missense	possibly damaging	0.71
R1564:Gm572	UTSW	4	148651186	missense	possibly damaging	0.53
R1672:Gm572	UTSW	4	148668509	missense	possibly damaging	0.86
R2516:Gm572	UTSW	4	148664384	missense	possibly damaging	0.93
R3852:Gm572	UTSW	4	148668872	missense	possibly damaging	0.71
R4366:Gm572	UTSW	4	148654865	missense	possibly damaging	0.85
R4888:Gm572	UTSW	4	148666845	critical splice donor site	probably null
R5026:Gm572	UTSW	4	148654844	missense	possibly damaging	0.92
R5121:Gm572	UTSW	4	148666845	critical splice donor site	probably null
R5797:Gm572	UTSW	4	148666798	missense	probably benign	0.02
R5988:Gm572	UTSW	4	148668507	missense	possibly damaging	0.85
R6827:Gm572	UTSW	4	148658086	missense	possibly damaging	0.96
R7709:Gm572	UTSW	4	148668951	missense	probably damaging	0.98
R8298:Gm572	UTSW	4	148658093	missense	possibly damaging	0.53
R8442:Gm572	UTSW	4	148658993	missense	possibly damaging	0.53
R8906:Gm572	UTSW	4	148666833	missense	probably benign	0.32
R9066:Gm572	UTSW	4	148666821	missense	possibly damaging	0.52
R9262:Gm572	UTSW	4	148651195	missense	probably benign
R9435:Gm572	UTSW	4	148668509	missense	possibly damaging	0.86
R9488:Gm572	UTSW	4	148668456	missense	possibly damaging	0.71
RF029:Gm572	UTSW	4	148671393	frame shift	probably null
RF030:Gm572	UTSW	4	148671393	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AATAATATTTCCTGGTTGCGCTGG -3'
(R):5'- ATACCAGTCAGCCTGCTCTG -3'

Sequencing Primer
(F):5'- TGCGCTGGAGCAACAGG -3'
(R):5'- CACCCGGGTTGGAGATAAG -3'

Posted On

2016-03-17