Mutagenetix > Incidental Mutation

Incidental Mutation 'R2342:Gm4787'

246795

Institutional Source

Beutler Lab

Gene Symbol

Gm4787

Ensembl Gene

ENSMUSG00000072974

Gene Name

predicted gene 4787

Synonyms

MMRRC Submission

040328-MU

Accession Numbers

Essential gene?

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

Stock #

R2342 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81423765-81426238 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 81425532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 209 (R209S)

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: R209S

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077390
Gene: ENSMUSG00000072974
AA Change: R209S

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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.2%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef28	C	T	13: 98,130,537 (GRCm39)	E434K	probably benign	Het
Babam1	T	A	8: 71,855,515 (GRCm39)	M236K	probably benign	Het
Camk1	T	C	6: 113,318,942 (GRCm39)		probably benign	Het
Chd8	A	C	14: 52,442,674 (GRCm39)	N625K	probably benign	Het
Dcaf8	A	G	1: 172,013,928 (GRCm39)	H373R	possibly damaging	Het
Dscam	G	A	16: 96,420,702 (GRCm39)	T1728M	probably damaging	Het
Elf1	T	C	14: 79,802,896 (GRCm39)		probably benign	Het
Epha2	C	T	4: 141,050,842 (GRCm39)	A866V	probably benign	Het
Frmd6	C	A	12: 70,930,592 (GRCm39)	Y237*	probably null	Het
Glg1	A	T	8: 111,914,439 (GRCm39)	C448*	probably null	Het
Hhipl1	T	C	12: 108,284,721 (GRCm39)	L358P	probably damaging	Het
Hmgxb3	G	A	18: 61,296,063 (GRCm39)	T315I	possibly damaging	Het
Irak2	C	A	6: 113,670,632 (GRCm39)	T539K	probably benign	Het
Lrp1b	C	A	2: 40,809,208 (GRCm39)	G2568C	possibly damaging	Het
Meis1	C	T	11: 18,831,647 (GRCm39)	A464T	probably damaging	Het
Or10g1b	C	A	14: 52,627,322 (GRCm39)	A303S	possibly damaging	Het
Or6a2	T	C	7: 106,600,116 (GRCm39)	D317G	probably benign	Het
Orc4	A	G	2: 48,817,152 (GRCm39)	S179P	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pnliprp1	A	G	19: 58,729,691 (GRCm39)		probably benign	Het
Prpf40b	T	A	15: 99,204,049 (GRCm39)	V174D	probably damaging	Het
Rnf169	T	C	7: 99,574,652 (GRCm39)	K648E	possibly damaging	Het
Rtf1	A	G	2: 119,542,598 (GRCm39)	T301A	probably benign	Het
Sdccag8	T	C	1: 176,747,207 (GRCm39)	V528A	probably benign	Het
Sgsh	A	G	11: 119,238,540 (GRCm39)	V308A	probably benign	Het
Shmt2	A	G	10: 127,354,680 (GRCm39)	V335A	possibly damaging	Het
Skint6	T	A	4: 113,034,180 (GRCm39)	T316S	probably benign	Het
Tbl2	G	A	5: 135,187,607 (GRCm39)	R288Q	possibly damaging	Het
Ttc3	C	T	16: 94,232,857 (GRCm39)	P1003L	probably damaging	Het
Usp34	A	G	11: 23,353,599 (GRCm39)	K1469E	possibly damaging	Het
Virma	T	C	4: 11,501,316 (GRCm39)	Y92H	probably damaging	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Wnt16	A	G	6: 22,288,923 (GRCm39)	E80G	probably damaging	Het
Zbtb10	C	T	3: 9,330,255 (GRCm39)	P538S	possibly damaging	Het
Zup1	G	A	10: 33,804,113 (GRCm39)	H454Y	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
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
R5029: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'- TGTCATTCCAAATACACGCAGC -3'
(R):5'- CACTGGAGGTCTGAAAGGCATG -3'

Sequencing Primer
(F):5'- CACGCGCGAACACAAACATTC -3'
(R):5'- GCATGATACAGGTAGATGACTTCAC -3'

Posted On

2014-10-30