Mutagenetix > Incidental Mutation

Incidental Mutation 'R0645:Gm597'

57021

Institutional Source

Beutler Lab

Gene Symbol

Gm597

Ensembl Gene

ENSMUSG00000048411

Gene Name

predicted gene 597

Synonyms

LOC210962

MMRRC Submission

038830-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R0645 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28776117-28780252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28776930 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 674 (N674Y)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059937]

AlphaFold

E9Q8J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000059937
AA Change: N674Y

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: N674Y

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
low complexity region	112	129	N/A	INTRINSIC
Pfam:FAM75	137	472	8.1e-14	PFAM
low complexity region	664	675	N/A	INTRINSIC
internal_repeat_1	718	807	1.4e-5	PROSPERO
internal_repeat_1	807	894	1.4e-5	PROSPERO

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

99% (94/95)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	C	T	2: 111,214,583		probably null	Het
Adam18	G	T	8: 24,672,120	Y46*	probably null	Het
Adam26b	A	C	8: 43,520,487	C493G	probably damaging	Het
Ak5	A	T	3: 152,653,615	L182Q	probably damaging	Het
Akt1s1	T	C	7: 44,849,221		probably benign	Het
Amhr2	G	T	15: 102,446,428	G133C	probably damaging	Het
Btbd9	A	T	17: 30,524,967	L187Q	probably damaging	Het
Ccdc117	A	T	11: 5,534,385		probably benign	Het
Ccdc138	A	T	10: 58,575,720	I637F	probably damaging	Het
Ccdc162	A	G	10: 41,586,411		probably benign	Het
Cdc25b	C	A	2: 131,191,613	H157Q	probably benign	Het
Cdon	A	G	9: 35,477,083		probably null	Het
Cdt1	G	A	8: 122,572,145		probably benign	Het
Cep350	C	T	1: 155,940,712		probably null	Het
Cfb	T	C	17: 34,860,016	K831R	probably benign	Het
Cldn4	C	A	5: 134,946,791		probably benign	Het
Cntnap5b	T	C	1: 100,072,042		probably benign	Het
Cyp27b1	T	G	10: 127,049,098	S77A	probably benign	Het
Dlc1	T	C	8: 36,574,049	D1342G	possibly damaging	Het
Dlgap4	A	G	2: 156,761,879	H887R	probably damaging	Het
Duox2	A	G	2: 122,292,658	I503T	probably damaging	Het
Elmsan1	G	T	12: 84,158,303	N834K	possibly damaging	Het
Eml4	T	C	17: 83,463,493		probably benign	Het
Ermap	A	G	4: 119,185,691	S212P	probably benign	Het
Esrrg	T	A	1: 188,043,341	C22S	probably benign	Het
Evx2	T	A	2: 74,657,894	Y194F	possibly damaging	Het
Fam126a	C	T	5: 23,979,508	G242D	probably damaging	Het
Fbn2	T	G	18: 58,058,389	D1554A	probably damaging	Het
Flrt1	G	A	19: 7,097,143		probably benign	Het
Fndc5	A	G	4: 129,139,837		probably benign	Het
Frem1	A	T	4: 82,989,166	I837N	probably damaging	Het
Fzd10	G	T	5: 128,602,598	A461S	possibly damaging	Het
Ganab	T	A	19: 8,911,113	Y511N	probably damaging	Het
Gbp7	A	G	3: 142,538,165		probably null	Het
Gm10639	T	C	9: 78,299,021	I75T	possibly damaging	Het
Gm5919	T	A	9: 83,883,383	C91S	unknown	Het
Gpr31b	A	T	17: 13,052,206	C25*	probably null	Het
Grb10	A	G	11: 11,936,755	S505P	probably damaging	Het
Grm4	A	T	17: 27,435,209	V542E	probably damaging	Het
Hivep3	G	A	4: 120,097,334	R949H	possibly damaging	Het
Invs	A	T	4: 48,407,653	M543L	probably benign	Het
Kcnk2	T	C	1: 189,256,730		probably null	Het
Kdm6b	A	T	11: 69,405,018	S808T	unknown	Het
Klhl30	C	T	1: 91,355,506	R277W	probably damaging	Het
Lama1	A	G	17: 67,773,712	Q1245R	probably benign	Het
Lingo3	G	T	10: 80,835,335	H254N	probably benign	Het
Lzts1	A	T	8: 69,135,740	H521Q	possibly damaging	Het
Map3k19	A	C	1: 127,822,182	I1144S	possibly damaging	Het
Mast2	A	G	4: 116,307,987	S1411P	probably damaging	Het
Mast2	T	C	4: 116,312,846		probably benign	Het
Mesp1	G	T	7: 79,792,580	S225R	possibly damaging	Het
Micu1	A	G	10: 59,839,681	T366A	possibly damaging	Het
Mknk2	T	C	10: 80,671,908		probably null	Het
Msh5	A	G	17: 35,039,223	L309P	probably damaging	Het
Myo7b	T	C	18: 31,994,909	I577V	probably benign	Het
Myom2	T	A	8: 15,117,698	D1094E	probably damaging	Het
Nedd1	T	C	10: 92,691,831		probably null	Het
Neu4	T	C	1: 94,022,469	L50S	probably damaging	Het
Noa1	T	C	5: 77,309,875	Y61C	probably benign	Het
Nr1h4	A	T	10: 89,506,528	M30K	probably benign	Het
Nsd3	A	G	8: 25,709,069	I1219V	probably benign	Het
Nup188	T	A	2: 30,343,466		probably null	Het
Olfr1039	A	G	2: 86,131,034	S210P	probably damaging	Het
Olfr1123	T	A	2: 87,418,268	Y71*	probably null	Het
Olfr420	A	T	1: 174,159,354	T194S	probably benign	Het
Olfr784	T	A	10: 129,388,293	I220N	possibly damaging	Het
Pbk	G	A	14: 65,813,796		probably benign	Het
Pcnx2	G	A	8: 125,760,720	T1848M	possibly damaging	Het
Pdzd7	C	T	19: 45,045,475	G57R	possibly damaging	Het
Pik3r4	C	A	9: 105,669,187		probably benign	Het
Plce1	A	G	19: 38,777,989	S2153G	probably damaging	Het
Pphln1	G	A	15: 93,420,311	V34M	possibly damaging	Het
Prrc2a	T	C	17: 35,156,332	D1114G	probably damaging	Het
Prss16	T	C	13: 22,009,376		probably benign	Het
Rtp3	T	C	9: 110,987,100	K128E	probably damaging	Het
Scn3a	T	A	2: 65,524,850	I241F	possibly damaging	Het
Setd1a	G	A	7: 127,787,210	V336I	probably damaging	Het
Sfpq	A	G	4: 127,022,969	I320V	possibly damaging	Het
Skint5	A	T	4: 113,763,482	D678E	unknown	Het
Slc12a9	G	A	5: 137,315,376	P774S	probably benign	Het
Slc25a54	C	G	3: 109,112,165	L362V	possibly damaging	Het
Smarcd1	A	G	15: 99,707,386		probably null	Het
Suco	A	T	1: 161,834,114	M916K	probably damaging	Het
Tiam2	T	C	17: 3,514,698	S1404P	possibly damaging	Het
Topors	T	C	4: 40,260,333	T984A	unknown	Het
Trabd2b	A	T	4: 114,586,570	K308M	probably damaging	Het
Trmo	A	T	4: 46,377,083		probably benign	Het
Trpc3	A	T	3: 36,671,505	D107E	probably benign	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Uggt2	A	C	14: 119,057,598	Y539D	probably benign	Het
Wwc2	T	G	8: 47,900,639		probably benign	Het
Zdbf2	T	A	1: 63,304,950	D829E	possibly damaging	Het

Other mutations in Gm597

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Gm597	APN	1	28778651	missense	possibly damaging	0.94
IGL00885:Gm597	APN	1	28776845	missense	unknown
IGL01296:Gm597	APN	1	28777056	missense	probably benign	0.23
IGL01476:Gm597	APN	1	28777453	missense	probably benign	0.04
IGL02125:Gm597	APN	1	28776338	missense	possibly damaging	0.91
IGL02410:Gm597	APN	1	28778631	missense	probably benign	0.25
IGL02982:Gm597	APN	1	28778054	missense	probably damaging	1.00
IGL03031:Gm597	APN	1	28778583	missense	probably benign	0.03
IGL03267:Gm597	APN	1	28777121	missense	probably damaging	1.00
R0294:Gm597	UTSW	1	28778663	missense	probably benign	0.00
R0433:Gm597	UTSW	1	28777342	nonsense	probably null
R0485:Gm597	UTSW	1	28778142	missense	probably damaging	1.00
R0744:Gm597	UTSW	1	28777821	missense	possibly damaging	0.46
R0836:Gm597	UTSW	1	28777821	missense	possibly damaging	0.46
R1036:Gm597	UTSW	1	28777802	missense	probably benign	0.01
R1302:Gm597	UTSW	1	28776340	missense	probably benign	0.00
R1394:Gm597	UTSW	1	28776809	missense	possibly damaging	0.61
R1395:Gm597	UTSW	1	28776809	missense	possibly damaging	0.61
R1514:Gm597	UTSW	1	28778748	missense	possibly damaging	0.83
R1535:Gm597	UTSW	1	28777424	missense	probably damaging	1.00
R2004:Gm597	UTSW	1	28777179	missense	probably damaging	1.00
R2021:Gm597	UTSW	1	28778153	missense	probably damaging	0.98
R2022:Gm597	UTSW	1	28778153	missense	probably damaging	0.98
R3115:Gm597	UTSW	1	28776329	missense	possibly damaging	0.92
R3615:Gm597	UTSW	1	28776575	missense	probably benign	0.26
R3616:Gm597	UTSW	1	28776575	missense	probably benign	0.26
R3862:Gm597	UTSW	1	28777641	missense	probably damaging	0.98
R4067:Gm597	UTSW	1	28777631	missense	probably damaging	0.98
R4119:Gm597	UTSW	1	28777973	missense	probably damaging	0.99
R4415:Gm597	UTSW	1	28777133	missense	probably benign	0.01
R5010:Gm597	UTSW	1	28777862	missense	possibly damaging	0.52
R5109:Gm597	UTSW	1	28777555	missense	possibly damaging	0.46
R5122:Gm597	UTSW	1	28780060	missense	probably benign	0.00
R5533:Gm597	UTSW	1	28778082	missense	probably damaging	1.00
R6085:Gm597	UTSW	1	28778227	missense	possibly damaging	0.55
R6116:Gm597	UTSW	1	28778699	missense	probably benign	0.01
R6750:Gm597	UTSW	1	28777414	missense	probably damaging	0.98
R6757:Gm597	UTSW	1	28780110	missense	probably damaging	0.98
R6774:Gm597	UTSW	1	28776893	missense	probably benign	0.00
R7156:Gm597	UTSW	1	28776767	missense	possibly damaging	0.53
R7365:Gm597	UTSW	1	28780152	missense	probably benign	0.04
R7739:Gm597	UTSW	1	28777608	missense	possibly damaging	0.72
R7996:Gm597	UTSW	1	28778406	missense	probably damaging	0.98
R8082:Gm597	UTSW	1	28777498	missense	probably benign	0.08
R8281:Gm597	UTSW	1	28778144	missense	possibly damaging	0.77
R8514:Gm597	UTSW	1	28778505	missense	probably damaging	1.00
R8944:Gm597	UTSW	1	28777074	missense	probably benign	0.00
R9042:Gm597	UTSW	1	28776956	missense	possibly damaging	0.72
R9101:Gm597	UTSW	1	28776659	missense	probably benign	0.04
R9106:Gm597	UTSW	1	28776894	missense	probably benign	0.00
R9173:Gm597	UTSW	1	28777349	missense	probably benign	0.22
R9596:Gm597	UTSW	1	28776607	missense	probably benign	0.07
R9632:Gm597	UTSW	1	28778039	missense	probably benign	0.20
R9656:Gm597	UTSW	1	28777455	missense	probably benign	0.02
R9659:Gm597	UTSW	1	28777455	missense	probably benign	0.02
R9661:Gm597	UTSW	1	28777455	missense	probably benign	0.02
R9663:Gm597	UTSW	1	28777455	missense	probably benign	0.02
R9710:Gm597	UTSW	1	28778039	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- TGTTGACTGTGCTCCTCAGGACTC -3'
(R):5'- CAAGACCAGGCCCAGAATACTGTG -3'

Sequencing Primer
(F):5'- GCTCCTCAGGACTCCTGTG -3'
(R):5'- CCTCTTCACAGGCCAAGG -3'

Posted On

2013-07-11