Mutagenetix > Incidental Mutation

Incidental Mutation 'R5364:Gm4787'

423038

Institutional Source

Beutler Lab

Gene Symbol

Gm4787

Ensembl Gene

ENSMUSG00000072974

Gene Name

predicted gene 4787

Synonyms

MMRRC Submission

042942-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R5364 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81376991-81379464 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 81377830 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 518 (T518S)

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: T518S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: T518S

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: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.3%

Validation Efficiency

100% (102/102)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	G	7: 27,578,767 (GRCm38)	T242R	probably damaging	Het
Abcc10	G	A	17: 46,305,651 (GRCm38)	R1205C	probably benign	Het
Acer1	A	G	17: 56,982,000 (GRCm38)	F37L	probably damaging	Het
Acp7	C	A	7: 28,611,023 (GRCm38)	G463V	probably benign	Het
Actr2	A	T	11: 20,100,797 (GRCm38)		probably benign	Het
Adam15	A	T	3: 89,345,595 (GRCm38)	I272K	probably damaging	Het
Adam1b	T	A	5: 121,500,883 (GRCm38)	I700F	possibly damaging	Het
Adam33	A	G	2: 131,054,472 (GRCm38)		probably null	Het
Ano1	T	C	7: 144,637,204 (GRCm38)	Y380C	probably damaging	Het
Arfgap3	A	C	15: 83,314,361 (GRCm38)	M307R	probably damaging	Het
Arhgap21	T	A	2: 20,849,722 (GRCm38)	R1610W	probably damaging	Het
Bbs2	A	G	8: 94,074,395 (GRCm38)	Y603H	probably benign	Het
Bbs9	G	T	9: 22,575,196 (GRCm38)		probably null	Het
Bcar3	A	C	3: 122,529,632 (GRCm38)	M779L	probably benign	Het
Bub3	A	T	7: 131,560,738 (GRCm38)	N10I	possibly damaging	Het
Cacna1c	T	G	6: 118,656,543 (GRCm38)	E1098D	probably benign	Het
Cacna1g	T	A	11: 94,416,858 (GRCm38)	M1738L	probably benign	Het
Camk2d	G	T	3: 126,780,420 (GRCm38)	G159C	probably damaging	Het
Ccdc51	A	T	9: 109,092,120 (GRCm38)	E358D	possibly damaging	Het
Cdc42bpa	A	G	1: 180,067,182 (GRCm38)	D309G	probably benign	Het
Cdhr3	A	T	12: 33,051,008 (GRCm38)	F468I	possibly damaging	Het
Chrd	A	G	16: 20,733,148 (GRCm38)	M1V	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470 (GRCm38)		probably benign	Het
Dcdc2b	T	C	4: 129,609,170 (GRCm38)	Y253C	probably damaging	Het
Dclk1	A	C	3: 55,255,945 (GRCm38)	N153H	possibly damaging	Het
Dgkg	G	T	16: 22,600,461 (GRCm38)	S96R	probably benign	Het
Dnah9	A	G	11: 65,881,696 (GRCm38)	Y3737H	possibly damaging	Het
Elovl4	A	T	9: 83,790,023 (GRCm38)	I81N	probably benign	Het
Epha7	T	A	4: 28,950,557 (GRCm38)	Y791N	probably damaging	Het
Fam193a	C	A	5: 34,466,253 (GRCm38)	T1395N	probably benign	Het
Fbln5	A	T	12: 101,771,364 (GRCm38)	V141E	probably damaging	Het
Flii	T	C	11: 60,720,128 (GRCm38)	T492A	probably benign	Het
Fnip2	A	G	3: 79,481,168 (GRCm38)	I752T	probably benign	Het
Fpr3	T	C	17: 17,970,544 (GRCm38)	W26R	probably benign	Het
Gabrb1	A	T	5: 72,136,762 (GRCm38)	T460S	probably benign	Het
Gde1	T	C	7: 118,698,651 (GRCm38)	N4S	probably benign	Het
Ghitm	A	T	14: 37,125,217 (GRCm38)	I300N	probably damaging	Het
Ghitm	G	T	14: 37,125,199 (GRCm38)	T306K	probably benign	Het
Iqcd	T	C	5: 120,600,267 (GRCm38)	I50T	probably damaging	Het
Itpripl1	G	A	2: 127,141,819 (GRCm38)	P128S	possibly damaging	Het
Jag2	C	A	12: 112,910,534 (GRCm38)	L1000F	probably damaging	Het
Klhdc4	A	T	8: 121,806,636 (GRCm38)		probably benign	Het
Klra5	A	G	6: 129,899,353 (GRCm38)	F164L	probably benign	Het
Larp1b	A	G	3: 40,977,223 (GRCm38)	Y288C	probably damaging	Het
Lrfn3	T	A	7: 30,355,653 (GRCm38)	E622D	possibly damaging	Het
Lyst	A	G	13: 13,656,854 (GRCm38)	D1621G	probably benign	Het
Mastl	T	C	2: 23,133,653 (GRCm38)	T353A	probably benign	Het
Mkln1	T	C	6: 31,496,712 (GRCm38)	Y130H	probably damaging	Het
Mms22l	T	A	4: 24,496,882 (GRCm38)		probably benign	Het
Mroh7	T	A	4: 106,691,643 (GRCm38)	M1008L	probably benign	Het
Nipal1	T	C	5: 72,667,900 (GRCm38)	V312A	probably damaging	Het
Nlrp5	T	A	7: 23,418,328 (GRCm38)	Y492*	probably null	Het
Odad1	T	A	7: 45,936,332 (GRCm38)	I105N	probably damaging	Het
Or1n1	T	C	2: 36,859,994 (GRCm38)	Y118C	probably damaging	Het
Otulinl	G	A	15: 27,659,945 (GRCm38)	Q24*	probably null	Het
Pcdhb11	T	A	18: 37,422,179 (GRCm38)	D187E	probably benign	Het
Pcdhb13	A	G	18: 37,443,508 (GRCm38)	Y313C	probably damaging	Het
Pdpn	G	A	4: 143,273,956 (GRCm38)	T102I	possibly damaging	Het
Pear1	A	T	3: 87,758,361 (GRCm38)	C120S	probably damaging	Het
Peg10	T	C	6: 4,756,128 (GRCm38)		probably benign	Het
Ppm1e	A	G	11: 87,237,181 (GRCm38)	W384R	probably benign	Het
Ppp1r10	C	T	17: 35,930,432 (GRCm38)	P700S	unknown	Het
Prl2c5	G	A	13: 13,183,042 (GRCm38)	R13K	probably benign	Het
Prmt3	C	A	7: 49,848,806 (GRCm38)	P487T	probably damaging	Het
Proser3	C	A	7: 30,546,148 (GRCm38)	A144S	possibly damaging	Het
Ptcd1	G	A	5: 145,151,431 (GRCm38)	T590I	probably damaging	Het
Rbsn	A	G	6: 92,193,977 (GRCm38)	V321A	probably damaging	Het
Slc40a1	C	A	1: 45,925,223 (GRCm38)	C14F	probably damaging	Het
Slc6a15	T	C	10: 103,393,508 (GRCm38)	I136T	probably damaging	Het
Slc7a4	A	G	16: 17,573,363 (GRCm38)	I449T	probably benign	Het
Snrnp48	T	A	13: 38,210,189 (GRCm38)		probably null	Het
Tada2a	A	G	11: 84,121,147 (GRCm38)	Y23H	probably benign	Het
Tbx15	A	T	3: 99,352,192 (GRCm38)	S460C	possibly damaging	Het
Tbx21	C	T	11: 97,101,478 (GRCm38)		probably null	Het
Tmcc2	T	G	1: 132,357,796 (GRCm38)	T376P	probably damaging	Het
Tmco4	G	A	4: 139,052,504 (GRCm38)	C420Y	probably damaging	Het
Tmem235	C	A	11: 117,864,194 (GRCm38)	Y157*	probably null	Het
Tmem63b	T	C	17: 45,664,727 (GRCm38)		probably benign	Het
Tnfrsf1a	T	C	6: 125,357,393 (GRCm38)	S92P	possibly damaging	Het
Top3b	A	T	16: 16,886,970 (GRCm38)	T397S	probably benign	Het
Trabd	C	A	15: 89,082,804 (GRCm38)		probably benign	Het
Trbv21	A	T	6: 41,202,830 (GRCm38)	I27L	possibly damaging	Het
Trim3	C	T	7: 105,619,069 (GRCm38)	V169M	probably damaging	Het
Ttn	T	C	2: 76,977,114 (GRCm38)	T92A	probably damaging	Het
Ttn	C	T	2: 76,908,516 (GRCm38)	S3893N	probably benign	Het
Uchl4	A	T	9: 64,235,539 (GRCm38)	I101F	possibly damaging	Het
Vmn1r5	T	A	6: 56,985,598 (GRCm38)	M86K	probably damaging	Het
Vmn2r55	T	A	7: 12,670,903 (GRCm38)	Q191L	possibly damaging	Het
Zfp458	A	T	13: 67,257,948 (GRCm38)	C139*	probably null	Het
Zfp788	T	C	7: 41,650,127 (GRCm38)	L729P	probably damaging	Het
Zmym2	T	A	14: 56,920,645 (GRCm38)	M547K	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
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
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'- TACGCTTGACACCATCACAGTG -3'
(R):5'- CAGGGCAGCTCTTGTAATAAAGG -3'

Sequencing Primer
(F):5'- CCATCACAGTGGAGCATTCC -3'
(R):5'- CAGCTCTTGTAATAAAGGAGGTTGC -3'

Posted On

2016-08-04