Mutagenetix > Incidental Mutation

Incidental Mutation 'R2140:Gm4787'

236152

Institutional Source

Beutler Lab

Gene Symbol

Gm4787

Ensembl Gene

ENSMUSG00000072974

Gene Name

predicted gene 4787

Synonyms

MMRRC Submission

040143-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R2140 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81376991-81379464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81378562 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 274 (I274T)

Ref Sequence

ENSEMBL: ENSMUSP00000077390 (fasta)

Gene Model

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

AlphaFold

B2RUD9

Predicted Effect

probably benign
Transcript: ENSMUST00000062182
AA Change: I274T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: I274T

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (96/96)

Allele List at MGI

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	T	C	14: 4,348,902 (GRCm38)	I21T	probably damaging	Het
9230110C19Rik	T	C	9: 8,022,477 (GRCm38)	D248G	probably damaging	Het
Adgrf1	A	C	17: 43,300,802 (GRCm38)	E186D	probably damaging	Het
Adgrf4	C	T	17: 42,666,898 (GRCm38)	R518Q	possibly damaging	Het
Afdn	A	G	17: 13,810,433 (GRCm38)	E202G	probably damaging	Het
Agfg2	T	A	5: 137,667,116 (GRCm38)	R126W	probably damaging	Het
Alkbh2	C	T	5: 114,125,716 (GRCm38)	V77I	probably benign	Het
Alppl2	A	G	1: 87,087,697 (GRCm38)	S381P	probably benign	Het
Aqp2	A	G	15: 99,579,366 (GRCm38)	T72A	probably damaging	Het
Atp9b	A	G	18: 80,736,087 (GRCm38)	C1123R	probably damaging	Het
AU016765	T	A	17: 64,520,000 (GRCm38)		noncoding transcript	Het
Bscl2	T	C	19: 8,845,320 (GRCm38)		probably null	Het
Ccdc80	A	T	16: 45,127,446 (GRCm38)	Y929F	probably damaging	Het
Cenpj	T	C	14: 56,526,932 (GRCm38)	D1341G	probably damaging	Het
Cir1	A	T	2: 73,312,437 (GRCm38)	S18T	probably damaging	Het
Clcn6	A	G	4: 148,024,137 (GRCm38)	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628 (GRCm38)	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806 (GRCm38)		probably null	Het
Crb1	T	C	1: 139,237,012 (GRCm38)	I1125V	probably benign	Het
Cyp3a13	A	T	5: 137,921,454 (GRCm38)	V20D	possibly damaging	Het
Dars	T	A	1: 128,372,162 (GRCm38)	M362L	probably benign	Het
Dck	T	C	5: 88,772,723 (GRCm38)	C101R	probably damaging	Het
Dnah11	T	C	12: 118,008,810 (GRCm38)	T2880A	probably benign	Het
Dnah7b	T	A	1: 46,268,670 (GRCm38)	M3048K	probably damaging	Het
Eef1a2	C	T	2: 181,148,742 (GRCm38)	E374K	probably benign	Het
Eif3a	A	T	19: 60,775,394 (GRCm38)		probably benign	Het
Esco1	A	G	18: 10,574,873 (GRCm38)		probably null	Het
Exoc8	C	T	8: 124,897,415 (GRCm38)	R71Q	possibly damaging	Het
Fam208a	C	T	14: 27,480,035 (GRCm38)	T1462I	probably damaging	Het
Far1	G	A	7: 113,566,460 (GRCm38)	V445M	possibly damaging	Het
Fbn1	C	A	2: 125,343,810 (GRCm38)	C1648F	probably damaging	Het
Fmn1	A	G	2: 113,595,048 (GRCm38)	K1189R	probably benign	Het
Foxl2	C	A	9: 98,956,487 (GRCm38)	P276H	unknown	Het
Fpr3	T	A	17: 17,970,617 (GRCm38)	V50E	probably damaging	Het
Garem1	T	A	18: 21,129,374 (GRCm38)	R794S	probably damaging	Het
Gemin4	G	C	11: 76,211,050 (GRCm38)	P962A	probably damaging	Het
Glyatl3	T	C	17: 40,911,084 (GRCm38)	D93G	probably benign	Het
Gm14124	A	T	2: 150,269,361 (GRCm38)	H657L	probably benign	Het
Gucy1a1	C	T	3: 82,118,886 (GRCm38)		probably null	Het
Hook1	GATGAATGA	GATGA	4: 96,013,312 (GRCm38)	503	probably null	Het
Ift20	G	A	11: 78,540,034 (GRCm38)	E68K	probably damaging	Het
Ints13	A	G	6: 146,576,431 (GRCm38)	S7P	probably damaging	Het
Kat5	T	A	19: 5,605,685 (GRCm38)		probably null	Het
Kcnma1	A	C	14: 23,314,220 (GRCm38)	L988R	probably damaging	Het
Kcnq3	C	A	15: 66,005,978 (GRCm38)		probably benign	Het
Kctd16	A	G	18: 40,259,178 (GRCm38)	E273G	possibly damaging	Het
Krt82	T	A	15: 101,545,156 (GRCm38)	Q265L	probably damaging	Het
Lama2	A	T	10: 27,054,694 (GRCm38)		probably null	Het
Laptm4b	G	T	15: 34,238,332 (GRCm38)	M3I	probably benign	Het
Lmtk2	A	G	5: 144,147,615 (GRCm38)	Y156C	probably damaging	Het
Lrrc58	G	A	16: 37,881,409 (GRCm38)	E350K	probably damaging	Het
Lrrk1	A	T	7: 66,330,750 (GRCm38)	D227E	probably damaging	Het
Macf1	C	T	4: 123,355,102 (GRCm38)	C7210Y	probably damaging	Het
Madd	A	G	2: 91,152,509 (GRCm38)	I1363T	possibly damaging	Het
Mcm3	A	G	1: 20,813,110 (GRCm38)	V295A	probably benign	Het
Mki67	A	G	7: 135,695,592 (GRCm38)	I2571T	possibly damaging	Het
Mtrr	C	T	13: 68,568,940 (GRCm38)	A385T	possibly damaging	Het
Myh7b	A	G	2: 155,620,123 (GRCm38)	Y313C	probably damaging	Het
Myot	A	T	18: 44,354,125 (GRCm38)	H343L	possibly damaging	Het
Myt1	C	A	2: 181,825,979 (GRCm38)	Q1069K	probably damaging	Het
Nid1	T	A	13: 13,499,668 (GRCm38)	D877E	probably damaging	Het
Nle1	A	G	11: 82,905,568 (GRCm38)	V159A	probably damaging	Het
Nmbr	C	A	10: 14,770,442 (GRCm38)	Y353*	probably null	Het
Nos1ap	T	A	1: 170,329,166 (GRCm38)	D241V	probably damaging	Het
Nostrin	A	C	2: 69,166,003 (GRCm38)	Y209S	probably damaging	Het
Olfr1099	A	T	2: 86,959,281 (GRCm38)	M59K	probably damaging	Het
Olfr115	T	G	17: 37,610,471 (GRCm38)	E93D	probably benign	Het
Olfr1168	A	T	2: 88,185,095 (GRCm38)	S73C	probably benign	Het
Olfr1240	C	T	2: 89,439,583 (GRCm38)	R232H	probably benign	Het
Olfr283	G	A	15: 98,378,396 (GRCm38)	T238I	possibly damaging	Het
Olfr378	A	T	11: 73,425,881 (GRCm38)	M34K	probably damaging	Het
Pcdh7	T	A	5: 58,128,996 (GRCm38)	V1138E	probably damaging	Het
Pglyrp3	T	G	3: 92,026,567 (GRCm38)	V173G	probably benign	Het
Plec	T	C	15: 76,183,174 (GRCm38)	T1331A	probably benign	Het
Plxnb2	T	C	15: 89,156,562 (GRCm38)	D1787G	probably benign	Het
Pms1	T	A	1: 53,281,988 (GRCm38)	I29F	probably damaging	Het
Ptprt	G	A	2: 161,811,988 (GRCm38)	T574I	probably damaging	Het
R3hdm1	A	G	1: 128,190,693 (GRCm38)	Y561C	probably damaging	Het
Rab17	A	G	1: 90,960,078 (GRCm38)	F120S	probably benign	Het
Rab7b	T	A	1: 131,698,419 (GRCm38)	W62R	probably damaging	Het
Ryr2	C	T	13: 11,560,607 (GRCm38)	G4835E	probably damaging	Het
Ryr3	A	G	2: 112,875,148 (GRCm38)	V807A	probably benign	Het
Sept4	A	T	11: 87,583,436 (GRCm38)	Q60L	probably benign	Het
Slc23a1	C	T	18: 35,626,434 (GRCm38)	R26Q	unknown	Het
Slc7a4	C	A	16: 17,574,544 (GRCm38)	R342L	possibly damaging	Het
Slfn9	C	T	11: 82,984,655 (GRCm38)	C367Y	possibly damaging	Het
Slitrk6	T	G	14: 110,750,794 (GRCm38)	T494P	probably benign	Het
Tiam1	A	G	16: 89,849,645 (GRCm38)		probably benign	Het
Tiparp	C	A	3: 65,529,252 (GRCm38)		probably benign	Het
Tmem39b	T	C	4: 129,678,688 (GRCm38)	T374A	probably benign	Het
Trim5	G	A	7: 104,276,791 (GRCm38)	R188*	probably null	Het
Ttn	C	T	2: 76,813,339 (GRCm38)	G11436R	probably damaging	Het
Ubr4	C	T	4: 139,477,207 (GRCm38)	T4810M	probably damaging	Het
Vmn2r26	A	T	6: 124,061,237 (GRCm38)	E590D	probably benign	Het
Wwc1	A	G	11: 35,870,528 (GRCm38)	F650S	probably benign	Het
Xrcc6	T	A	15: 82,022,977 (GRCm38)	F167I	probably damaging	Het

Other mutations in Gm4787

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01719:Gm4787	APN	12	81,377,174 (GRCm38)	missense	possibly damaging	0.50
IGL01916:Gm4787	APN	12	81,377,444 (GRCm38)	missense	probably benign	0.36
IGL02193:Gm4787	APN	12	81,378,528 (GRCm38)	missense	probably benign	0.02
IGL02623:Gm4787	APN	12	81,378,728 (GRCm38)	missense	probably damaging	1.00
IGL02681:Gm4787	APN	12	81,378,769 (GRCm38)	missense	possibly damaging	0.88
IGL03257:Gm4787	APN	12	81,378,052 (GRCm38)	missense	probably damaging	1.00
IGL03410:Gm4787	APN	12	81,379,174 (GRCm38)	missense	probably damaging	1.00
F5770:Gm4787	UTSW	12	81,377,567 (GRCm38)	nonsense	probably null
PIT4362001:Gm4787	UTSW	12	81,377,175 (GRCm38)	missense	probably benign
R0070:Gm4787	UTSW	12	81,379,066 (GRCm38)	missense	probably damaging	1.00
R0128:Gm4787	UTSW	12	81,377,747 (GRCm38)	nonsense	probably null
R0220:Gm4787	UTSW	12	81,378,648 (GRCm38)	missense	probably damaging	0.98
R0304:Gm4787	UTSW	12	81,378,934 (GRCm38)	missense	probably damaging	1.00
R0513:Gm4787	UTSW	12	81,378,312 (GRCm38)	missense	probably benign	0.03
R1761:Gm4787	UTSW	12	81,377,176 (GRCm38)	missense	probably benign	0.02
R1809:Gm4787	UTSW	12	81,378,529 (GRCm38)	missense	possibly damaging	0.91
R1853:Gm4787	UTSW	12	81,378,334 (GRCm38)	missense	probably damaging	1.00
R1854:Gm4787	UTSW	12	81,378,334 (GRCm38)	missense	probably damaging	1.00
R2030:Gm4787	UTSW	12	81,378,770 (GRCm38)	missense	probably damaging	1.00
R2063:Gm4787	UTSW	12	81,378,920 (GRCm38)	missense	probably benign	0.39
R2112:Gm4787	UTSW	12	81,377,833 (GRCm38)	missense	probably damaging	1.00
R2151:Gm4787	UTSW	12	81,377,219 (GRCm38)	missense	probably benign	0.00
R2152:Gm4787	UTSW	12	81,377,219 (GRCm38)	missense	probably benign	0.00
R2342:Gm4787	UTSW	12	81,378,758 (GRCm38)	missense	possibly damaging	0.91
R2504:Gm4787	UTSW	12	81,379,137 (GRCm38)	missense	possibly damaging	0.93
R4038:Gm4787	UTSW	12	81,378,358 (GRCm38)	missense	probably damaging	1.00
R4604:Gm4787	UTSW	12	81,379,213 (GRCm38)	missense	probably benign	0.17
R4748:Gm4787	UTSW	12	81,378,056 (GRCm38)	missense	probably damaging	1.00
R4750:Gm4787	UTSW	12	81,378,367 (GRCm38)	missense	possibly damaging	0.95
R4928:Gm4787	UTSW	12	81,378,838 (GRCm38)	missense	probably benign	0.03
R4960:Gm4787	UTSW	12	81,379,316 (GRCm38)	missense	probably damaging	0.99
R4974:Gm4787	UTSW	12	81,377,629 (GRCm38)	missense	probably damaging	0.99
R5028:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5029:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5031:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5098:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5099:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5100:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5101:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5135:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5152:Gm4787	UTSW	12	81,378,677 (GRCm38)	missense	probably benign	0.02
R5180:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5220:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5257:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5258:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5297:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5324:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5325:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5355:Gm4787	UTSW	12	81,377,465 (GRCm38)	nonsense	probably null
R5364:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5396:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5397:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5398:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5514:Gm4787	UTSW	12	81,378,328 (GRCm38)	missense	possibly damaging	0.90
R5634:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5666:Gm4787	UTSW	12	81,378,031 (GRCm38)	missense	probably benign	0.23
R5670:Gm4787	UTSW	12	81,378,031 (GRCm38)	missense	probably benign	0.23
R5787:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R5788:Gm4787	UTSW	12	81,377,830 (GRCm38)	missense	probably benign	0.01
R6354:Gm4787	UTSW	12	81,377,981 (GRCm38)	missense	probably damaging	1.00
R6932:Gm4787	UTSW	12	81,379,200 (GRCm38)	missense	probably benign	0.04
R7120:Gm4787	UTSW	12	81,378,486 (GRCm38)	missense	probably benign	0.00
R7237:Gm4787	UTSW	12	81,377,668 (GRCm38)	missense	probably damaging	0.99
R7937:Gm4787	UTSW	12	81,377,905 (GRCm38)	missense	probably benign	0.01
R8022:Gm4787	UTSW	12	81,377,720 (GRCm38)	missense	possibly damaging	0.94
R8140:Gm4787	UTSW	12	81,378,151 (GRCm38)	missense	probably benign	0.00
R8314:Gm4787	UTSW	12	81,379,135 (GRCm38)	missense	probably damaging	1.00
R8480:Gm4787	UTSW	12	81,377,506 (GRCm38)	missense	probably damaging	1.00
R8498:Gm4787	UTSW	12	81,379,066 (GRCm38)	missense	probably damaging	1.00
R8515:Gm4787	UTSW	12	81,377,269 (GRCm38)	missense	probably benign	0.00
R9103:Gm4787	UTSW	12	81,378,715 (GRCm38)	missense	probably benign	0.06
R9457:Gm4787	UTSW	12	81,379,246 (GRCm38)	missense	probably damaging	1.00
R9557:Gm4787	UTSW	12	81,379,300 (GRCm38)	nonsense	probably null
R9608:Gm4787	UTSW	12	81,378,312 (GRCm38)	missense	probably benign	0.03
V7580:Gm4787	UTSW	12	81,377,567 (GRCm38)	nonsense	probably null
V7581:Gm4787	UTSW	12	81,377,567 (GRCm38)	nonsense	probably null
V7582:Gm4787	UTSW	12	81,377,567 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCATGTGCCAGGAAAGATCC -3'
(R):5'- GGAATACAATACACGGTGACTCATG -3'

Sequencing Primer
(F):5'- TGTATATAATACTCCCCAGTTGGG -3'
(R):5'- CACGGTGACTCATGAATTATACAC -3'

Posted On

2014-10-01