Mutagenetix > Incidental Mutation

Incidental Mutation 'R4750:Gm4787'

357522

Institutional Source

Beutler Lab

Gene Symbol

Gm4787

Ensembl Gene

ENSMUSG00000072974

Gene Name

predicted gene 4787

Synonyms

MMRRC Submission

042031-MU

Accession Numbers

Essential gene?

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

Stock #

R4750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81376991-81379464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81378367 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 339 (N339S)

Ref Sequence

ENSEMBL: ENSMUSP00000077390 (fasta)

Gene Model

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

AlphaFold

B2RUD9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062182
AA Change: N339S

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: N339S

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

97% (89/92)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008P14Rik	C	T	2: 32,379,413		probably null	Het
1700074P13Rik	A	G	6: 40,921,021	W243R	probably damaging	Het
2510039O18Rik	T	A	4: 147,941,488	L155Q	probably damaging	Het
Aadac	T	C	3: 60,035,817	F48L	probably benign	Het
Aadat	T	A	8: 60,526,600	N165K	probably benign	Het
Acan	C	A	7: 79,092,718	D557E	probably damaging	Het
Adamts4	T	A	1: 171,251,066	V85D	probably benign	Het
Agt	A	G	8: 124,556,937	V481A	probably benign	Het
Angpt1	T	C	15: 42,676,401	N21D	probably benign	Het
Ankrd52	A	C	10: 128,378,089	D38A	probably damaging	Het
Ap1g2	G	T	14: 55,104,365	Q247K	probably damaging	Het
Apaf1	T	C	10: 91,060,188	R341G	probably damaging	Het
Arf2	T	C	11: 103,979,759		probably null	Het
Arhgef1	A	G	7: 24,918,576		probably benign	Het
Bbox1	T	A	2: 110,265,521	Y366F	possibly damaging	Het
Bmp3	A	G	5: 98,872,558	E280G	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdh12	T	A	15: 21,583,808	V578D	possibly damaging	Het
Cdk19	T	C	10: 40,476,199	S282P	probably damaging	Het
Cfap46	A	G	7: 139,679,323		probably null	Het
Cfhr3	T	A	1: 139,584,828		noncoding transcript	Het
Ctrc	T	A	4: 141,841,523	Y123F	probably benign	Het
Enpp4	A	G	17: 44,102,355	M96T	probably damaging	Het
Exosc10	T	A	4: 148,562,394	S154T	possibly damaging	Het
Fbxo21	G	A	5: 118,000,468	R486H	probably benign	Het
Foxj3	C	A	4: 119,616,590	A204E	probably damaging	Het
Gas6	T	G	8: 13,476,227	D237A	probably benign	Het
Gimap8	A	G	6: 48,650,427	S112G	probably benign	Het
Gm6185	T	C	1: 161,182,363		noncoding transcript	Het
Gramd3	A	G	18: 56,432,300	E9G	probably benign	Het
Hmgxb3	A	T	18: 61,167,496	D169E	probably benign	Het
Isl2	T	A	9: 55,544,312	V162D	probably benign	Het
Kcns3	T	A	12: 11,091,654	D348V	probably damaging	Het
Kcp	G	A	6: 29,484,626	P1318S	probably benign	Het
Kif12	T	A	4: 63,167,783	Q415L	probably damaging	Het
Lama3	T	A	18: 12,504,359	H45Q	probably benign	Het
Lonp2	A	T	8: 86,631,502	K117M	probably benign	Het
Loxl4	T	A	19: 42,605,004	N243Y	probably damaging	Het
Lrif1	C	A	3: 106,735,564	Q662K	probably benign	Het
Lrrc37a	T	A	11: 103,455,480	I3187L	probably benign	Het
Lsg1	A	G	16: 30,565,449	I521T	probably damaging	Het
Mecom	T	G	3: 29,957,530	K865Q	probably damaging	Het
Myh10	T	C	11: 68,785,314	I790T	probably damaging	Het
Nek7	C	T	1: 138,498,673	S234N	probably damaging	Het
Nepro	T	C	16: 44,730,182	L179P	probably damaging	Het
Nexn	A	G	3: 152,237,722	C649R	probably damaging	Het
Nsmf	T	C	2: 25,055,026	S34P	probably damaging	Het
Olfr1140	C	T	2: 87,746,508	T104I	probably benign	Het
Olfr1339	T	A	4: 118,734,733	V68D	possibly damaging	Het
Olfr1350	A	G	7: 6,570,851	I287V	probably benign	Het
Olfr1364	A	G	13: 21,573,743	S238P	possibly damaging	Het
Olfr354	T	A	2: 36,907,716	S257T	probably benign	Het
Olfr406	T	A	11: 74,269,420	F10L	probably benign	Het
Olfr417	A	G	1: 174,368,922	I2V	probably benign	Het
Olfr685	A	T	7: 105,180,926	I144N	probably damaging	Het
Olfr702	A	G	7: 106,824,307	F73S	probably damaging	Het
P2rx5	G	T	11: 73,164,877	K53N	probably damaging	Het
Pcdhb20	C	A	18: 37,506,131	A570E	possibly damaging	Het
Pip4k2c	T	C	10: 127,211,417	H32R	unknown	Het
Pkhd1	T	A	1: 20,524,112	D1259V	possibly damaging	Het
Plekha7	A	T	7: 116,137,311	V889E	probably damaging	Het
Polr2b	A	C	5: 77,332,039	E546D	possibly damaging	Het
Ppm1l	A	G	3: 69,549,328	T193A	probably damaging	Het
Ppp1r37	G	T	7: 19,531,520	D710E	probably benign	Het
Prdm4	A	G	10: 85,899,221	F679L	probably damaging	Het
Prkcd	A	G	14: 30,610,301	M1T	probably null	Het
Rcor3	A	G	1: 192,130,449	Y77H	unknown	Het
Rdh5	T	C	10: 128,918,366	E66G	possibly damaging	Het
Slc12a5	A	G	2: 164,982,931	M396V	probably benign	Het
Slco5a1	T	G	1: 12,879,280	T629P	probably damaging	Het
Smarca5	A	C	8: 80,733,707	N133K	probably benign	Het
Spag5	T	C	11: 78,320,052	M927T	probably benign	Het
Spint4	A	T	2: 164,700,146	D39V	probably damaging	Het
Syt6	T	A	3: 103,630,917	*512R	probably null	Het
Tmem247	T	C	17: 86,922,342	C204R	probably damaging	Het
Tmem72	A	G	6: 116,695,434	Y149H	probably damaging	Het
Trpm6	T	C	19: 18,876,064	V1816A	probably damaging	Het
Usp35	A	G	7: 97,310,339	V1008A	possibly damaging	Het
Washc4	T	C	10: 83,591,052	S1075P	probably damaging	Het
Wdr34	T	C	2: 30,033,920	T198A	probably benign	Het
Xylb	G	T	9: 119,359,313	G62*	probably null	Het
Zfp142	T	C	1: 74,572,458	E623G	probably damaging	Het
Zfp239	A	G	6: 117,871,739	Y146C	probably damaging	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
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
R6932:Gm4787	UTSW	12	81379200	missense	probably benign	0.04
R7120:Gm4787	UTSW	12	81378486	missense	probably benign	0.00
R7237:Gm4787	UTSW	12	81377668	missense	probably damaging	0.99
R7937:Gm4787	UTSW	12	81377905	missense	probably benign	0.01
R8022:Gm4787	UTSW	12	81377720	missense	possibly damaging	0.94
R8140:Gm4787	UTSW	12	81378151	missense	probably benign	0.00
R8314:Gm4787	UTSW	12	81379135	missense	probably damaging	1.00
R8480:Gm4787	UTSW	12	81377506	missense	probably damaging	1.00
R8498:Gm4787	UTSW	12	81379066	missense	probably damaging	1.00
R8515:Gm4787	UTSW	12	81377269	missense	probably benign	0.00
R9103:Gm4787	UTSW	12	81378715	missense	probably benign	0.06
R9457:Gm4787	UTSW	12	81379246	missense	probably damaging	1.00
R9557:Gm4787	UTSW	12	81379300	nonsense	probably null
R9608:Gm4787	UTSW	12	81378312	missense	probably benign	0.03
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'- ATGCAAGGATCCCAACCATG -3'
(R):5'- TTGGAATGACAAGGACCACTACTC -3'

Sequencing Primer
(F):5'- GGATCCTCATATGTAGCACATCATGG -3'
(R):5'- TGACAAGGACCACTACTCAATTTC -3'

Posted On

2015-11-11