Mutagenetix > Incidental Mutation

Incidental Mutation 'R4067:Gm597'

316140

Institutional Source

Beutler Lab

Gene Symbol

Gm597

Ensembl Gene

ENSMUSG00000048411

Gene Name

predicted gene 597

Synonyms

LOC210962

MMRRC Submission

040853-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R4067 (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 28777631 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 440 (D440V)

Ref Sequence

ENSEMBL: ENSMUSP00000058140 (fasta)

Gene Model

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

AlphaFold

E9Q8J5

Predicted Effect

probably damaging
Transcript: ENSMUST00000059937
AA Change: D440V

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

SMART Domains

Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: D440V

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	T	A	1: 151,893,399	T121S	possibly damaging	Het
4930503E14Rik	T	C	14: 44,169,184	E136G	probably damaging	Het
Adgrg4	A	G	X: 56,959,960	N2527S	probably damaging	Het
Ak1	G	A	2: 32,629,581	S7N	probably benign	Het
Aktip	A	C	8: 91,125,838	I230R	possibly damaging	Het
Alms1	A	G	6: 85,621,289	I1032M	probably damaging	Het
Asb4	T	A	6: 5,423,651	V266E	probably damaging	Het
Bace1	G	A	9: 45,854,664	V130M	probably damaging	Het
BC017643	A	T	11: 121,224,702		probably null	Het
Bglap	A	T	3: 88,384,437		probably benign	Het
Brpf3	T	C	17: 28,821,259	S885P	probably benign	Het
Chd9	A	T	8: 91,023,574	I1742F	possibly damaging	Het
Col9a2	T	A	4: 121,052,389	I415N	probably damaging	Het
Dnajc7	T	C	11: 100,601,781	Y38C	probably benign	Het
Enam	A	G	5: 88,503,377	Y840C	probably damaging	Het
Etnppl	T	A	3: 130,631,793	C416S	probably damaging	Het
Fgf20	A	T	8: 40,279,855	S181T	probably benign	Het
Fut8	T	A	12: 77,464,061	Y421N	probably damaging	Het
Gcn1l1	T	G	5: 115,599,088	L1295R	probably damaging	Het
Gm11437	A	G	11: 84,164,511	V93A	probably benign	Het
Gm1966	T	A	7: 106,599,565		noncoding transcript	Het
Gm9989	T	C	3: 81,922,242		noncoding transcript	Het
Gsdmc4	A	T	15: 63,893,887		probably null	Het
Ighv10-1	A	T	12: 114,479,023	M114K	probably benign	Het
Iltifb	T	C	10: 118,290,210	I161V	probably damaging	Het
Itfg2	T	A	6: 128,410,450		probably benign	Het
Kirrel	G	A	3: 87,088,467	Q387*	probably null	Het
Klk1	C	T	7: 44,227,544	R24*	probably null	Het
Klra7	T	C	6: 130,231,649		probably null	Het
Ltn1	T	C	16: 87,416,230	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mrps2	A	G	2: 28,469,770	N213S	probably benign	Het
Muc4	A	T	16: 32,751,051	I310F	possibly damaging	Het
Ntrk3	T	A	7: 78,517,437	Y102F	probably damaging	Het
Olfr1058	A	T	2: 86,386,087	C110*	probably null	Het
Otof	C	T	5: 30,399,291	G282D	probably damaging	Het
Pcdhb2	A	T	18: 37,297,314		probably null	Het
Pign	A	T	1: 105,587,978		probably null	Het
Plekha6	G	A	1: 133,294,678	E1001K	probably benign	Het
Plxna2	C	T	1: 194,749,317	S538F	probably damaging	Het
Ppm1d	A	G	11: 85,345,852	T486A	probably benign	Het
Pudp	A	G	18: 50,568,258	F135L	probably benign	Het
Rd3l	T	G	12: 111,979,511	N178T	probably benign	Het
Rel	A	C	11: 23,753,215		probably null	Het
Sf3a1	T	A	11: 4,167,824	F195L	probably damaging	Het
Slc30a1	G	C	1: 191,907,289	A95P	probably damaging	Het
Slc47a2	T	C	11: 61,303,947	T469A	probably benign	Het
Slc4a10	A	T	2: 62,046,645	M1L	probably benign	Het
Slc8a1	T	A	17: 81,648,274	D445V	probably damaging	Het
Slc9a7	C	T	X: 20,205,554	G113R	probably damaging	Het
Spic	T	C	10: 88,675,683	H237R	possibly damaging	Het
Stk26	A	G	X: 50,889,033	E317G	probably benign	Het
Tex10	A	T	4: 48,459,355	Y506*	probably null	Het
Trhde	T	A	10: 114,444,680	R848*	probably null	Het
Trpc5	T	A	X: 144,419,598	R545*	probably null	Het
Usp24	C	T	4: 106,359,089	T379M	possibly damaging	Het
Wdr34	A	G	2: 30,032,808	L309P	probably benign	Het
Zfp783	A	T	6: 47,945,565		noncoding transcript	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
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'- TGGATCTCCTGAACCTCTGG -3'
(R):5'- AGGGATGCTCTTAAACAAGGCC -3'

Sequencing Primer
(F):5'- TGGATCTCCTGAACCTCTGGAAAAG -3'
(R):5'- GGCCAAAACAAAGTTTGGCAC -3'

Posted On

2015-05-15