Mutagenetix > Incidental Mutations

Incidental Mutation 'R6932:Gm4787'

540116

Institutional Source

Beutler Lab

Gene Symbol

Gm4787

Ensembl Gene

ENSMUSG00000072974

Gene Name

predicted gene 4787

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R6932 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81376991-81379464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 81379200 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 61 (D61E)

Ref Sequence

ENSEMBL: ENSMUSP00000077390 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062182] [ENSMUST00000110340] [ENSMUST00000164386] [ENSMUST00000166723]

Predicted Effect

probably benign
Transcript: ENSMUST00000062182
AA Change: D61E

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: D61E

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Pep_M12B_propep	46	163	1.5e-19	PFAM
Pfam:Reprolysin	213	406	4.6e-18	PFAM
DISIN	425	500	2e-33	SMART
ACR	501	644	2.83e-53	SMART
transmembrane domain	714	736	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110340

SMART Domains

Protein: ENSMUSP00000105969
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	74	6.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164386

SMART Domains

Protein: ENSMUSP00000132941
Gene: ENSMUSG00000021139

Domain	Start	End	E-Value	Type
PDZ	21	100	6.16e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166723

SMART Domains

Protein: ENSMUSP00000130935
Gene: ENSMUSG00000091803

Domain	Start	End	E-Value	Type
Pfam:COX16	16	73	6.9e-16	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

98% (80/82)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932443I19Rik	CA	CAA	8: 13,734,865		probably null	Het
Acads	A	T	5: 115,112,272	F198I	probably damaging	Het
Acy1	A	G	9: 106,437,627		probably null	Het
Adk	A	G	14: 21,076,308	M1V	probably null	Het
Ahi1	A	G	10: 20,963,691	D167G	probably benign	Het
Ankrd16	T	C	2: 11,786,243	V290A	possibly damaging	Het
Arhgef5	T	A	6: 43,274,417	S701T	possibly damaging	Het
Atp13a5	C	A	16: 29,281,951	M673I	probably damaging	Het
BC005624	T	C	2: 30,978,928	D78G	possibly damaging	Het
Bcat2	C	T	7: 45,589,321	H347Y	probably damaging	Het
Bpifb4	A	G	2: 153,942,627	Y85C	possibly damaging	Het
Cdc42	T	A	4: 137,322,621		probably null	Het
Cep170	G	A	1: 176,761,437	L541F	possibly damaging	Het
Cgrrf1	T	A	14: 46,853,722	N234K	probably benign	Het
Ctrc	C	T	4: 141,841,568	C108Y	probably damaging	Het
Cyp2u1	C	T	3: 131,298,296	V192M	possibly damaging	Het
Dhx38	A	T	8: 109,552,675	L1013Q	probably damaging	Het
Dnah1	T	A	14: 31,287,776	N1945I	probably damaging	Het
Dnah10	C	G	5: 124,821,450	N3765K	possibly damaging	Het
Dnah17	C	A	11: 118,060,079	R2906L	possibly damaging	Het
Dnajc10	C	T	2: 80,331,336	T306I	probably benign	Het
Efemp2	T	A	19: 5,480,245	C287S	probably damaging	Het
Efna1	T	C	3: 89,272,784	R143G	probably benign	Het
Emilin1	A	C	5: 30,917,077	N221H	probably damaging	Het
Epg5	A	G	18: 77,948,609	T174A	probably benign	Het
Fam184b	T	A	5: 45,532,901		probably null	Het
Fchsd2	T	A	7: 101,277,414	C570*	probably null	Het
Gm7356	C	T	17: 14,001,663	G35R	probably damaging	Het
Gm8220	A	G	14: 44,288,188	T20A	probably damaging	Het
Hivep2	C	T	10: 14,128,501	T281M	probably damaging	Het
Ighv2-9-1	A	G	12: 113,770,072	V43A	probably damaging	Het
Klhl33	A	T	14: 50,891,916	C619S	probably benign	Het
Kmt2a	A	T	9: 44,829,261		probably benign	Het
Lax1	A	G	1: 133,680,158	C282R	probably benign	Het
Lrrd1	A	G	5: 3,851,395	K567E	probably benign	Het
Luzp1	C	T	4: 136,540,813	R116*	probably null	Het
Lypd3	G	C	7: 24,638,433	G75R	probably damaging	Het
Macrod2	A	T	2: 140,419,913	N38I	probably damaging	Het
Map3k14	A	T	11: 103,242,132	I80N	probably damaging	Het
Mcm9	A	G	10: 53,620,203	S368P	probably benign	Het
Mfge8	T	C	7: 79,143,301	D139G	probably benign	Het
Mmp19	A	T	10: 128,791,654	I54F	probably benign	Het
Myo15	G	T	11: 60,499,494	W2114L	probably damaging	Het
Myo1a	G	T	10: 127,710,458	V277L	probably benign	Het
Myoc	A	G	1: 162,639,346	D28G	probably damaging	Het
Myrf	G	T	19: 10,219,560	N487K	probably damaging	Het
Olfr1093	C	G	2: 86,786,155	L142V	probably damaging	Het
Olfr429	G	A	1: 174,089,750	A237T	probably damaging	Het
Olfr703	G	T	7: 106,844,802	G64*	probably null	Het
Omd	T	A	13: 49,590,234	F253L	probably damaging	Het
Papss1	T	G	3: 131,599,971	I238S	probably damaging	Het
Pkhd1	A	T	1: 20,562,451	F580Y	probably benign	Het
Polk	T	A	13: 96,516,681	K70N	probably damaging	Het
Ppig	T	A	2: 69,732,411	D31E	probably benign	Het
Ppp6r1	G	T	7: 4,633,292	S766R	possibly damaging	Het
Rab11fip5	T	C	6: 85,341,558	D783G	probably benign	Het
Reln	T	C	5: 21,985,857	I1511V	probably benign	Het
Rnh1	T	C	7: 141,163,183	N268S	probably damaging	Het
Rpia	A	G	6: 70,773,440	V236A	probably benign	Het
Rpl10a	G	T	17: 28,329,450	V80L	probably benign	Het
Sap130	T	G	18: 31,666,354	S295A	possibly damaging	Het
Sgms1	C	T	19: 32,142,793	V238I	probably benign	Het
Sh3tc1	A	G	5: 35,707,434	S470P	probably benign	Het
Slc25a32	A	G	15: 39,097,589	V233A	possibly damaging	Het
Slc2a2	T	C	3: 28,717,519	S158P	probably benign	Het
Slc6a2	A	G	8: 92,996,025	Y550C	probably benign	Het
Slc7a9	C	A	7: 35,452,511	T77K	probably benign	Het
Snd1	A	T	6: 28,626,101	D385V	probably benign	Het
Ssh3	A	T	19: 4,264,420	F369I	probably damaging	Het
Syk	A	G	13: 52,612,459		probably null	Het
Tbc1d16	A	G	11: 119,208,916	S211P	probably damaging	Het
Ttc3	A	G	16: 94,443,453	T1439A	probably benign	Het
Usp18	A	G	6: 121,252,514	M31V	probably benign	Het
Vav1	G	T	17: 57,302,330	E415D	possibly damaging	Het
Vps13a	A	T	19: 16,678,075	V1863D	probably benign	Het
Xdh	T	A	17: 73,922,562	I299F	probably damaging	Het
Zc3h14	A	G	12: 98,771,077		probably benign	Het
Zfp345	G	A	2: 150,473,411	H69Y	probably damaging	Het
Zfp652	G	T	11: 95,763,841	V357L	probably benign	Het
Zfp712	A	T	13: 67,040,827	Y545*	probably null	Het
Zgrf1	T	C	3: 127,559,632		probably null	Het

Other mutations in Gm4787

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01719:Gm4787	APN	12	81377174	missense	possibly damaging	0.50
IGL01916:Gm4787	APN	12	81377444	missense	probably benign	0.36
IGL02193:Gm4787	APN	12	81378528	missense	probably benign	0.02
IGL02623:Gm4787	APN	12	81378728	missense	probably damaging	1.00
IGL02681:Gm4787	APN	12	81378769	missense	possibly damaging	0.88
IGL03257:Gm4787	APN	12	81378052	missense	probably damaging	1.00
IGL03410:Gm4787	APN	12	81379174	missense	probably damaging	1.00
F5770:Gm4787	UTSW	12	81377567	nonsense	probably null
PIT4362001:Gm4787	UTSW	12	81377175	missense	probably benign
R0070:Gm4787	UTSW	12	81379066	missense	probably damaging	1.00
R0128:Gm4787	UTSW	12	81377747	nonsense	probably null
R0220:Gm4787	UTSW	12	81378648	missense	probably damaging	0.98
R0304:Gm4787	UTSW	12	81378934	missense	probably damaging	1.00
R0513:Gm4787	UTSW	12	81378312	missense	probably benign	0.03
R1761:Gm4787	UTSW	12	81377176	missense	probably benign	0.02
R1809:Gm4787	UTSW	12	81378529	missense	possibly damaging	0.91
R1853:Gm4787	UTSW	12	81378334	missense	probably damaging	1.00
R1854:Gm4787	UTSW	12	81378334	missense	probably damaging	1.00
R2030:Gm4787	UTSW	12	81378770	missense	probably damaging	1.00
R2063:Gm4787	UTSW	12	81378920	missense	probably benign	0.39
R2112:Gm4787	UTSW	12	81377833	missense	probably damaging	1.00
R2140:Gm4787	UTSW	12	81378562	missense	probably benign	0.03
R2151:Gm4787	UTSW	12	81377219	missense	probably benign	0.00
R2152:Gm4787	UTSW	12	81377219	missense	probably benign	0.00
R2342:Gm4787	UTSW	12	81378758	missense	possibly damaging	0.91
R2504:Gm4787	UTSW	12	81379137	missense	possibly damaging	0.93
R4038:Gm4787	UTSW	12	81378358	missense	probably damaging	1.00
R4604:Gm4787	UTSW	12	81379213	missense	probably benign	0.17
R4748:Gm4787	UTSW	12	81378056	missense	probably damaging	1.00
R4750:Gm4787	UTSW	12	81378367	missense	possibly damaging	0.95
R4928:Gm4787	UTSW	12	81378838	missense	probably benign	0.03
R4960:Gm4787	UTSW	12	81379316	missense	probably damaging	0.99
R4974:Gm4787	UTSW	12	81377629	missense	probably damaging	0.99
R5028:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5029:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5031:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5098:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5099:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5100:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5101:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5135:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5152:Gm4787	UTSW	12	81378677	missense	probably benign	0.02
R5180:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5220:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5257:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5258:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5297:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5324:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5325:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5355:Gm4787	UTSW	12	81377465	nonsense	probably null
R5364:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5396:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5397:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5398:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5514:Gm4787	UTSW	12	81378328	missense	possibly damaging	0.90
R5634:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5666:Gm4787	UTSW	12	81378031	missense	probably benign	0.23
R5670:Gm4787	UTSW	12	81378031	missense	probably benign	0.23
R5787:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R5788:Gm4787	UTSW	12	81377830	missense	probably benign	0.01
R6354:Gm4787	UTSW	12	81377981	missense	probably damaging	1.00
R7120:Gm4787	UTSW	12	81378486	missense	probably benign	0.00
R7237:Gm4787	UTSW	12	81377668	missense	probably damaging	0.99
R8022:Gm4787	UTSW	12	81377720	missense	possibly damaging	0.94
V7580:Gm4787	UTSW	12	81377567	nonsense	probably null
V7581:Gm4787	UTSW	12	81377567	nonsense	probably null
V7582:Gm4787	UTSW	12	81377567	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATCATGCCTTTCAGACCTCCAG -3'
(R):5'- GACCACCTACCTGGACTTTG -3'

Sequencing Primer
(F):5'- ACTCCTTCCAGGTAGCTGTAGAAG -3'
(R):5'- ACTTTGGCCCTCCTGAGAG -3'

Posted On

2018-11-06