Mutagenetix > Incidental Mutation

Incidental Mutation 'R7996:Gm597'

616064

Institutional Source

Beutler Lab

Gene Symbol

Gm597

Ensembl Gene

ENSMUSG00000048411

Gene Name

predicted gene 597

Synonyms

LOC210962

MMRRC Submission

046036-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7996 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28776117-28780252 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28778406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 182 (E182K)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

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

AlphaFold

E9Q8J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000059937
AA Change: E182K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: E182K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	G	T	7: 34,263,599	T216K	possibly damaging	Het
9230113P08Rik	G	A	9: 35,909,354	R34H	probably damaging	Het
9330182L06Rik	A	C	5: 9,462,881	K958N	probably damaging	Het
Abcg5	A	T	17: 84,670,062	N394K	probably damaging	Het
Amotl1	T	C	9: 14,593,705	D69G	possibly damaging	Het
Arid5a	G	T	1: 36,317,445	C121F	unknown	Het
Ccne2	C	A	4: 11,201,347	Q292K	probably benign	Het
Cfap70	A	G	14: 20,409,126	I723T	probably benign	Het
Chrnd	A	G	1: 87,191,106	T62A	probably damaging	Het
Cobll1	T	A	2: 65,150,985	H87L	possibly damaging	Het
Derl1	T	G	15: 57,878,574	M122L	probably benign	Het
Dnah5	T	A	15: 28,409,177	N3580K	probably damaging	Het
Efcab12	T	C	6: 115,823,417	Q215R	probably benign	Het
Eif3m	T	C	2: 105,001,349	N289D	probably benign	Het
Emsy	T	A	7: 98,593,681	I1084L	probably benign	Het
Fam71b	T	C	11: 46,405,062	V87A		Het
Gm3336	A	T	8: 70,720,497	T53S	unknown	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Hr	G	A	14: 70,563,603	W676*	probably null	Het
Katnb1	A	T	8: 95,098,015	I546F	possibly damaging	Het
Memo1	A	T	17: 74,258,496	L24Q	probably damaging	Het
Mmel1	C	G	4: 154,892,455	Q529E	probably benign	Het
Naip5	A	G	13: 100,221,656	F1024S	probably damaging	Het
Olfr1356	A	T	10: 78,847,321	V198E	probably damaging	Het
Olfr48	T	C	2: 89,844,415	D186G	probably benign	Het
Paics	A	G	5: 76,959,429	K110R	probably benign	Het
Pcdhgc4	C	T	18: 37,817,406	S625F	probably damaging	Het
Pnpla8	T	A	12: 44,282,983	L106*	probably null	Het
Rabggtb	T	C	3: 153,911,968	H31R	probably damaging	Het
Rhot1	G	A	11: 80,257,537	C601Y	probably damaging	Het
Rps27	A	G	3: 90,213,002	V53A	probably benign	Het
Sdr39u1	C	A	14: 55,897,887	G200*	probably null	Het
Sesn1	T	A	10: 41,894,933	Y153*	probably null	Het
Slc25a40	A	G	5: 8,443,653	T168A	probably damaging	Het
Smoc2	C	T	17: 14,375,468	R286*	probably null	Het
Smtnl2	T	A	11: 72,400,374	K349N	probably damaging	Het
Snx16	G	T	3: 10,435,449	D153E	probably benign	Het
Ssu72	A	C	4: 155,731,993	N144T	probably benign	Het
Stk40	C	A	4: 126,136,874	L296I	probably damaging	Het
Sult3a2	T	C	10: 33,768,258	M225V	probably damaging	Het
Syne2	T	C	12: 76,004,667	L4057P	probably damaging	Het
Tbx2	A	G	11: 85,834,790	H189R	probably damaging	Het
Tead1	T	C	7: 112,842,104		probably null	Het
Tgs1	T	C	4: 3,605,842	S786P	probably damaging	Het
Tmco4	T	C	4: 139,020,861	Y251H	probably damaging	Het
Trim14	A	T	4: 46,533,086	C76S	probably benign	Het
Tubgcp6	T	A	15: 89,109,028	Q506L	possibly damaging	Het
Vmn2r50	A	T	7: 10,047,868	F317I	probably damaging	Het
Vwa5a	T	A	9: 38,727,828	Y335*	probably null	Het
Zgrf1	C	T	3: 127,595,924	T1257I	possibly damaging	Het
Zpr1	A	G	9: 46,273,565	N87D	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
R0645:Gm597	UTSW	1	28776930	missense	probably damaging	0.99
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
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'- CCAATTCAGCTCAGGTTGACC -3'
(R):5'- GAAACAACTTTCCCTCCTTCAG -3'

Sequencing Primer
(F):5'- TGTATCCCTATATCAGTGTTGCGAAG -3'
(R):5'- CTTCAGCTGTTTTCTAAACTCAAGG -3'

Posted On

2020-01-23