Mutagenetix > Incidental Mutation

Incidental Mutation 'R2152:Gm4787'

234422

Institutional Source

Beutler Lab

Gene Symbol

Gm4787

Ensembl Gene

ENSMUSG00000072974

Gene Name

predicted gene 4787

Synonyms

MMRRC Submission

040155-MU

Accession Numbers

Essential gene?

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

Stock #

R2152 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81376991-81379464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81377219 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 722 (I722F)

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: I722F

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: I722F

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

noncoding transcript
Transcript: ENSMUST00000087222

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: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	T	A	17: 33,066,934 (GRCm38)	D298V	probably damaging	Het
Ackr3	A	T	1: 90,213,843 (GRCm38)	Y8F	probably benign	Het
Acy1	T	C	9: 106,435,617 (GRCm38)	E175G	probably damaging	Het
Add2	T	C	6: 86,098,598 (GRCm38)	L243P	probably damaging	Het
Adsl	A	G	15: 80,967,662 (GRCm38)	D407G	probably damaging	Het
Afg3l1	T	G	8: 123,494,836 (GRCm38)	I478S	probably damaging	Het
Arfrp1	T	C	2: 181,359,694 (GRCm38)	T108A	probably benign	Het
Art5	A	G	7: 102,098,200 (GRCm38)	L124P	possibly damaging	Het
Asap2	A	T	12: 21,112,083 (GRCm38)	T14S	probably damaging	Het
Atp2c2	A	G	8: 119,756,102 (GRCm38)	N901S	probably benign	Het
Bbs12	G	T	3: 37,321,160 (GRCm38)	E586*	probably null	Het
Bicd2	G	T	13: 49,379,576 (GRCm38)	C546F	probably damaging	Het
Bid	A	T	6: 120,900,254 (GRCm38)	L42Q	probably damaging	Het
Bpifb9a	A	G	2: 154,260,135 (GRCm38)	K51E	probably benign	Het
Calcr	G	T	6: 3,687,615 (GRCm38)	T424K	probably benign	Het
Cd46	A	G	1: 195,062,413 (GRCm38)	I339T	probably benign	Het
Chek1	C	A	9: 36,723,983 (GRCm38)	V35F	probably damaging	Het
Cntn3	A	G	6: 102,206,537 (GRCm38)	I719T	probably damaging	Het
Cyb5r1	T	C	1: 134,409,625 (GRCm38)	I163T	possibly damaging	Het
Cyp2d26	A	T	15: 82,792,706 (GRCm38)		probably null	Het
Dclk1	A	G	3: 55,247,212 (GRCm38)	Y21C	probably damaging	Het
Dgcr2	G	A	16: 17,891,487 (GRCm38)		probably null	Het
Dhx38	T	C	8: 109,560,674 (GRCm38)	S221G	probably benign	Het
Dis3l	T	A	9: 64,307,263 (GRCm38)	N981I	probably benign	Het
Dnah3	C	T	7: 119,952,013 (GRCm38)	V3028I	probably benign	Het
Dnah6	T	C	6: 73,049,166 (GRCm38)	Y3448C	probably benign	Het
Dok5	G	A	2: 170,800,896 (GRCm38)	G38D	probably damaging	Het
Doxl2	T	A	6: 48,976,539 (GRCm38)	I466N	probably damaging	Het
Epb41l1	A	G	2: 156,514,128 (GRCm38)	D528G	probably damaging	Het
Fat4	A	T	3: 38,983,395 (GRCm38)	Y3732F	probably damaging	Het
Fgfr4	A	T	13: 55,166,964 (GRCm38)	Y640F	probably damaging	Het
Foxo6	T	A	4: 120,268,614 (GRCm38)	D328V	probably benign	Het
Foxp1	A	G	6: 99,016,541 (GRCm38)	L134P	probably damaging	Het
Frem2	G	A	3: 53,517,029 (GRCm38)	R2996*	probably null	Het
Fuk	T	A	8: 110,889,072 (GRCm38)	T542S	probably benign	Het
Garem2	T	C	5: 30,108,299 (GRCm38)	S54P	probably damaging	Het
Gcn1l1	T	A	5: 115,609,829 (GRCm38)	I1765N	probably benign	Het
Gpc6	G	T	14: 116,926,092 (GRCm38)	A53S	probably benign	Het
Gtpbp8	A	G	16: 44,740,027 (GRCm38)		probably null	Het
H2-Q2	T	C	17: 35,345,276 (GRCm38)		probably null	Het
Hapln2	C	A	3: 88,023,613 (GRCm38)	R157L	probably benign	Het
Hemgn	C	A	4: 46,396,607 (GRCm38)	E210*	probably null	Het
Hpse	T	A	5: 100,691,403 (GRCm38)	K360*	probably null	Het
Iqcj	A	T	3: 68,055,310 (GRCm38)	E68V	probably damaging	Het
Kat2a	T	C	11: 100,712,346 (GRCm38)		probably benign	Het
Kat6b	A	T	14: 21,668,667 (GRCm38)	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,371,440 (GRCm38)	I371F	probably damaging	Het
Klhl30	C	A	1: 91,357,824 (GRCm38)	A356D	probably benign	Het
Klra3	G	C	6: 130,333,144 (GRCm38)	R138G	probably benign	Het
Mgea5	A	T	19: 45,758,022 (GRCm38)	Y779*	probably null	Het
Micu1	G	T	10: 59,863,288 (GRCm38)	M468I	probably benign	Het
Mrc1	A	G	2: 14,327,864 (GRCm38)	T1292A	probably damaging	Het
Myh8	G	A	11: 67,294,469 (GRCm38)	E849K	probably damaging	Het
Myom3	G	T	4: 135,803,233 (GRCm38)	R1152L	probably benign	Het
Nedd4l	T	A	18: 65,210,330 (GRCm38)	H820Q	probably damaging	Het
Nlrp4g	T	A	9: 124,353,339 (GRCm38)		noncoding transcript	Het
Olfr1339	C	T	4: 118,735,249 (GRCm38)	A240V	possibly damaging	Het
Olfr1413	T	C	1: 92,573,908 (GRCm38)	S246P	probably damaging	Het
Olfr24	T	C	9: 18,755,095 (GRCm38)	D180G	probably damaging	Het
Olfr33	G	T	7: 102,713,581 (GRCm38)	H277Q	probably benign	Het
Olfr435	A	G	6: 43,202,069 (GRCm38)	I142V	probably benign	Het
Olfr592	A	T	7: 103,186,640 (GRCm38)	D13V	probably benign	Het
Olfr913	G	T	9: 38,594,411 (GRCm38)	L63F	probably damaging	Het
Olfr969	A	T	9: 39,795,647 (GRCm38)	I91F	probably benign	Het
Otop1	T	A	5: 38,302,851 (GRCm38)	M587K	probably damaging	Het
Pgm5	T	A	19: 24,834,815 (GRCm38)	I118F	probably damaging	Het
Phc2	A	G	4: 128,745,066 (GRCm38)	*41W	probably null	Het
Piezo2	A	T	18: 63,114,041 (GRCm38)	M532K	probably damaging	Het
Pjvk	A	T	2: 76,658,369 (GRCm38)	I295F	probably benign	Het
Popdc2	A	G	16: 38,363,120 (GRCm38)	N155S	possibly damaging	Het
Ppp4r3a	G	T	12: 101,042,567 (GRCm38)	N684K	probably damaging	Het
Prpf4b	T	A	13: 34,900,419 (GRCm38)	M930K	probably benign	Het
Ptpn12	C	A	5: 21,002,468 (GRCm38)	Q297H	probably damaging	Het
Ptprz1	C	A	6: 23,030,671 (GRCm38)	L1010I	probably damaging	Het
Rabepk	A	T	2: 34,784,550 (GRCm38)	D232E	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,985 (GRCm38)	H636R	probably benign	Het
Rb1	T	C	14: 73,288,725 (GRCm38)	T169A	probably benign	Het
Rcc2	T	C	4: 140,717,117 (GRCm38)	L373P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324 (GRCm38)		probably benign	Het
Rrbp1	A	G	2: 143,954,198 (GRCm38)	L1200P	possibly damaging	Het
Sdk1	A	G	5: 141,792,944 (GRCm38)	N226D	probably damaging	Het
Selenbp1	G	A	3: 94,944,130 (GRCm38)	R398H	probably damaging	Het
Selenoo	A	G	15: 89,099,282 (GRCm38)	M509V	probably benign	Het
Sidt2	T	C	9: 45,945,340 (GRCm38)	D477G	probably damaging	Het
Slc2a5	T	G	4: 150,125,638 (GRCm38)	S27A	probably damaging	Het
Slc30a5	A	T	13: 100,803,949 (GRCm38)	H619Q	probably damaging	Het
Slc5a9	A	G	4: 111,893,223 (GRCm38)	I146T	possibly damaging	Het
Slc6a1	G	T	6: 114,307,770 (GRCm38)	G263V	probably damaging	Het
Slmap	A	G	14: 26,418,247 (GRCm38)	Y771H	probably damaging	Het
Snx29	A	G	16: 11,400,843 (GRCm38)	D181G	possibly damaging	Het
Spata31d1c	G	A	13: 65,033,965 (GRCm38)		probably null	Het
Stat5a	C	A	11: 100,874,090 (GRCm38)	T213N	probably benign	Het
Stt3a	A	T	9: 36,747,996 (GRCm38)	V349D	probably damaging	Het
Tcf20	A	T	15: 82,855,602 (GRCm38)	D549E	probably damaging	Het
Thbs2	T	A	17: 14,673,209 (GRCm38)	D903V	probably damaging	Het
Tln2	T	C	9: 67,302,560 (GRCm38)	T432A	probably damaging	Het
Tmc1	A	T	19: 20,856,675 (GRCm38)	N241K	probably benign	Het
Tmem260	G	T	14: 48,477,609 (GRCm38)	R240L	possibly damaging	Het
Tnfaip6	A	T	2: 52,043,730 (GRCm38)	E32D	probably damaging	Het
Trpa1	A	T	1: 14,899,401 (GRCm38)	H381Q	probably damaging	Het
Tsen2	T	C	6: 115,547,975 (GRCm38)	I45T	possibly damaging	Het
Ttc6	G	A	12: 57,705,552 (GRCm38)	V1415I	probably damaging	Het
Ttll7	G	T	3: 146,930,189 (GRCm38)	R426L	probably damaging	Het
Ttn	A	C	2: 76,740,138 (GRCm38)	S26804A	probably damaging	Het
Ubqlnl	A	T	7: 104,148,683 (GRCm38)	C536S	probably benign	Het
Vmn2r73	A	G	7: 85,857,728 (GRCm38)	V792A	probably benign	Het
Zfp345	T	C	2: 150,472,658 (GRCm38)	T320A	probably benign	Het
Zfp407	T	C	18: 84,209,649 (GRCm38)	D1945G	possibly 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
R2140:Gm4787	UTSW	12	81,378,562 (GRCm38)	missense	probably benign	0.03
R2151: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'- GAAACACAATGCTAATTCCCAGTG -3'
(R):5'- GGCAACTGTCACTGTGTTCAAG -3'

Sequencing Primer
(F):5'- TTTGTGAAAGGTAACATGACTGATGG -3'
(R):5'- CACTGTGTTCAAGGTTGGCAAC -3'

Posted On

2014-10-01