Mutagenetix > Incidental Mutation

Incidental Mutation 'R5029:Gm4787'

391575

Institutional Source

Beutler Lab

Gene Symbol

Gm4787

Ensembl Gene

ENSMUSG00000072974

Gene Name

predicted gene 4787

Synonyms

MMRRC Submission

042620-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R5029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81423765-81426238 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 81424604 bp (GRCm39)

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: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,127 (GRCm39)	M154K	probably benign	Het
Ank	T	C	15: 27,590,439 (GRCm39)	V341A	probably benign	Het
Bnip3	T	A	7: 138,499,848 (GRCm39)		probably benign	Het
C1galt1	A	G	6: 7,863,931 (GRCm39)	K4E	possibly damaging	Het
Cbs	T	A	17: 31,834,456 (GRCm39)	Q511L	possibly damaging	Het
Ccdc117	T	C	11: 5,484,897 (GRCm39)	H109R	possibly damaging	Het
Cdh4	T	A	2: 179,523,742 (GRCm39)	V440D	possibly damaging	Het
Cnot4	T	C	6: 35,054,962 (GRCm39)	N109S	probably damaging	Het
Dact2	A	T	17: 14,416,114 (GRCm39)	S695R	probably benign	Het
Defa21	A	T	8: 21,516,381 (GRCm39)	E75V	probably damaging	Het
Dimt1	A	G	13: 107,093,630 (GRCm39)	D274G	probably null	Het
Dstyk	G	T	1: 132,377,062 (GRCm39)	V223L	probably benign	Het
Dync1h1	T	A	12: 110,584,444 (GRCm39)	S616T	possibly damaging	Het
Fer1l6	A	T	15: 58,515,769 (GRCm39)	I1619F	probably benign	Het
Gm4744	T	A	6: 40,926,341 (GRCm39)	Y83F	probably null	Het
Hpx	T	G	7: 105,240,971 (GRCm39)	Y434S	probably damaging	Het
Ints4	A	G	7: 97,158,981 (GRCm39)	D451G	probably benign	Het
Itgb4	A	T	11: 115,879,417 (GRCm39)		probably benign	Het
Jph1	T	A	1: 17,161,615 (GRCm39)	N349I	possibly damaging	Het
Klrg1	A	G	6: 122,259,694 (GRCm39)	L26P	probably benign	Het
M1ap	A	C	6: 82,980,813 (GRCm39)	D233A	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mycbp2	A	G	14: 103,393,946 (GRCm39)	S2762P	probably benign	Het
Myh11	T	A	16: 14,023,489 (GRCm39)	Q1556L	probably damaging	Het
N4bp2	A	G	5: 65,972,123 (GRCm39)	D1428G	probably damaging	Het
Ndc80	A	C	17: 71,815,760 (GRCm39)	C342G	probably benign	Het
Nxn	A	C	11: 76,165,356 (GRCm39)	Y199*	probably null	Het
Or6c206	T	A	10: 129,097,707 (GRCm39)	N292K	probably benign	Het
Or7c19	C	T	8: 85,957,835 (GRCm39)	A237V	probably benign	Het
Or8j3b	A	G	2: 86,205,234 (GRCm39)	I174T	probably damaging	Het
Pacs1	A	G	19: 5,192,299 (GRCm39)	F691L	probably benign	Het
Pcdhga12	T	C	18: 37,899,864 (GRCm39)	V232A	probably benign	Het
Pik3cb	A	T	9: 98,936,113 (GRCm39)	M773K	probably damaging	Het
Plxnb1	T	C	9: 108,943,723 (GRCm39)	Y1937H	probably damaging	Het
Ppfia2	C	A	10: 106,693,304 (GRCm39)	T603N	probably benign	Het
Psg22	A	G	7: 18,453,662 (GRCm39)	Y119C	probably damaging	Het
Saraf	G	T	8: 34,628,412 (GRCm39)	R86L	probably damaging	Het
Sh3bgrl2	T	C	9: 83,430,542 (GRCm39)	S11P	possibly damaging	Het
Slc39a4	C	T	15: 76,498,283 (GRCm39)	D385N	probably damaging	Het
St13	G	C	15: 81,283,786 (GRCm39)	R4G	probably benign	Het
Stpg3	T	C	2: 25,104,576 (GRCm39)	N13S	probably damaging	Het
Taf1a	T	A	1: 183,177,273 (GRCm39)	D50E	possibly damaging	Het
Tlr1	T	A	5: 65,083,024 (GRCm39)	N518Y	probably damaging	Het
Tnik	G	A	3: 28,719,993 (GRCm39)		probably null	Het
Tomm70a	T	A	16: 56,942,514 (GRCm39)	L97Q	probably benign	Het
Vmn2r97	T	A	17: 19,168,173 (GRCm39)	V809E	probably damaging	Het
Vps13d	T	C	4: 144,882,852 (GRCm39)	I914V	probably benign	Het
Zfyve26	A	T	12: 79,333,097 (GRCm39)	H291Q	probably damaging	Het
Zmynd15	G	T	11: 70,353,387 (GRCm39)	C334F	probably damaging	Het

Other mutations in Gm4787

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01719:Gm4787	APN	12	81,423,948 (GRCm39)	missense	possibly damaging	0.50
IGL01916:Gm4787	APN	12	81,424,218 (GRCm39)	missense	probably benign	0.36
IGL02193:Gm4787	APN	12	81,425,302 (GRCm39)	missense	probably benign	0.02
IGL02623:Gm4787	APN	12	81,425,502 (GRCm39)	missense	probably damaging	1.00
IGL02681:Gm4787	APN	12	81,425,543 (GRCm39)	missense	possibly damaging	0.88
IGL03257:Gm4787	APN	12	81,424,826 (GRCm39)	missense	probably damaging	1.00
IGL03410:Gm4787	APN	12	81,425,948 (GRCm39)	missense	probably damaging	1.00
F5770:Gm4787	UTSW	12	81,424,341 (GRCm39)	nonsense	probably null
PIT4362001:Gm4787	UTSW	12	81,423,949 (GRCm39)	missense	probably benign
R0070:Gm4787	UTSW	12	81,425,840 (GRCm39)	missense	probably damaging	1.00
R0128:Gm4787	UTSW	12	81,424,521 (GRCm39)	nonsense	probably null
R0220:Gm4787	UTSW	12	81,425,422 (GRCm39)	missense	probably damaging	0.98
R0304:Gm4787	UTSW	12	81,425,708 (GRCm39)	missense	probably damaging	1.00
R0513:Gm4787	UTSW	12	81,425,086 (GRCm39)	missense	probably benign	0.03
R1761:Gm4787	UTSW	12	81,423,950 (GRCm39)	missense	probably benign	0.02
R1809:Gm4787	UTSW	12	81,425,303 (GRCm39)	missense	possibly damaging	0.91
R1853:Gm4787	UTSW	12	81,425,108 (GRCm39)	missense	probably damaging	1.00
R1854:Gm4787	UTSW	12	81,425,108 (GRCm39)	missense	probably damaging	1.00
R2030:Gm4787	UTSW	12	81,425,544 (GRCm39)	missense	probably damaging	1.00
R2063:Gm4787	UTSW	12	81,425,694 (GRCm39)	missense	probably benign	0.39
R2112:Gm4787	UTSW	12	81,424,607 (GRCm39)	missense	probably damaging	1.00
R2140:Gm4787	UTSW	12	81,425,336 (GRCm39)	missense	probably benign	0.03
R2151:Gm4787	UTSW	12	81,423,993 (GRCm39)	missense	probably benign	0.00
R2152:Gm4787	UTSW	12	81,423,993 (GRCm39)	missense	probably benign	0.00
R2342:Gm4787	UTSW	12	81,425,532 (GRCm39)	missense	possibly damaging	0.91
R2504:Gm4787	UTSW	12	81,425,911 (GRCm39)	missense	possibly damaging	0.93
R4038:Gm4787	UTSW	12	81,425,132 (GRCm39)	missense	probably damaging	1.00
R4604:Gm4787	UTSW	12	81,425,987 (GRCm39)	missense	probably benign	0.17
R4748:Gm4787	UTSW	12	81,424,830 (GRCm39)	missense	probably damaging	1.00
R4750:Gm4787	UTSW	12	81,425,141 (GRCm39)	missense	possibly damaging	0.95
R4928:Gm4787	UTSW	12	81,425,612 (GRCm39)	missense	probably benign	0.03
R4960:Gm4787	UTSW	12	81,426,090 (GRCm39)	missense	probably damaging	0.99
R4974:Gm4787	UTSW	12	81,424,403 (GRCm39)	missense	probably damaging	0.99
R5028:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5031:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5098:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5099:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5100:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5101:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5135:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5152:Gm4787	UTSW	12	81,425,451 (GRCm39)	missense	probably benign	0.02
R5180:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5220:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5257:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5258:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5297:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5324:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5325:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5355:Gm4787	UTSW	12	81,424,239 (GRCm39)	nonsense	probably null
R5364:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5396:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5397:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5398:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5514:Gm4787	UTSW	12	81,425,102 (GRCm39)	missense	possibly damaging	0.90
R5634:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5666:Gm4787	UTSW	12	81,424,805 (GRCm39)	missense	probably benign	0.23
R5670:Gm4787	UTSW	12	81,424,805 (GRCm39)	missense	probably benign	0.23
R5787:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R5788:Gm4787	UTSW	12	81,424,604 (GRCm39)	missense	probably benign	0.01
R6354:Gm4787	UTSW	12	81,424,755 (GRCm39)	missense	probably damaging	1.00
R6932:Gm4787	UTSW	12	81,425,974 (GRCm39)	missense	probably benign	0.04
R7120:Gm4787	UTSW	12	81,425,260 (GRCm39)	missense	probably benign	0.00
R7237:Gm4787	UTSW	12	81,424,442 (GRCm39)	missense	probably damaging	0.99
R7937:Gm4787	UTSW	12	81,424,679 (GRCm39)	missense	probably benign	0.01
R8022:Gm4787	UTSW	12	81,424,494 (GRCm39)	missense	possibly damaging	0.94
R8140:Gm4787	UTSW	12	81,424,925 (GRCm39)	missense	probably benign	0.00
R8314:Gm4787	UTSW	12	81,425,909 (GRCm39)	missense	probably damaging	1.00
R8480:Gm4787	UTSW	12	81,424,280 (GRCm39)	missense	probably damaging	1.00
R8498:Gm4787	UTSW	12	81,425,840 (GRCm39)	missense	probably damaging	1.00
R8515:Gm4787	UTSW	12	81,424,043 (GRCm39)	missense	probably benign	0.00
R9103:Gm4787	UTSW	12	81,425,489 (GRCm39)	missense	probably benign	0.06
R9457:Gm4787	UTSW	12	81,426,020 (GRCm39)	missense	probably damaging	1.00
R9557:Gm4787	UTSW	12	81,426,074 (GRCm39)	nonsense	probably null
R9608:Gm4787	UTSW	12	81,425,086 (GRCm39)	missense	probably benign	0.03
V7580:Gm4787	UTSW	12	81,424,341 (GRCm39)	nonsense	probably null
V7581:Gm4787	UTSW	12	81,424,341 (GRCm39)	nonsense	probably null
V7582:Gm4787	UTSW	12	81,424,341 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TACGCTTGACACCATCACAG -3'
(R):5'- CAGGGCAGCTCTTGTAATAAAG -3'

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

Posted On

2016-06-06