Mutagenetix > Incidental Mutation

Incidental Mutation 'R2393:Gm5901'

247863

Institutional Source

Beutler Lab

Gene Symbol

Gm5901

Ensembl Gene

ENSMUSG00000078611

Gene Name

predicted gene 5901

Synonyms

MMRRC Submission

040361-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R2393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105024245-105027584 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 105026996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 255 (V255F)

Ref Sequence

ENSEMBL: ENSMUSP00000102417 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048079] [ENSMUST00000074686] [ENSMUST00000106805] [ENSMUST00000118726] [ENSMUST00000122327] [ENSMUST00000137158] [ENSMUST00000210448] [ENSMUST00000211549] [ENSMUST00000209233] [ENSMUST00000179474]

AlphaFold

D3YVJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000048079

SMART Domains

Protein: ENSMUSP00000045084
Gene: ENSMUSG00000044465

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	2.8e-99	PFAM
low complexity region	482	501	N/A	INTRINSIC
low complexity region	527	544	N/A	INTRINSIC
low complexity region	697	710	N/A	INTRINSIC
low complexity region	718	730	N/A	INTRINSIC
low complexity region	891	906	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074686

SMART Domains

Protein: ENSMUSP00000074252
Gene: ENSMUSG00000044465

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	4.4e-100	PFAM
low complexity region	482	501	N/A	INTRINSIC
low complexity region	527	544	N/A	INTRINSIC
low complexity region	697	710	N/A	INTRINSIC
low complexity region	718	730	N/A	INTRINSIC
low complexity region	825	840	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106805
AA Change: V255F

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000102417
Gene: ENSMUSG00000078611
AA Change: V255F

Domain	Start	End	E-Value	Type
Pfam:DUF4663	1	332	1.8e-145	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118726

SMART Domains

Protein: ENSMUSP00000112605
Gene: ENSMUSG00000044465

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	1.8e-99	PFAM
low complexity region	496	515	N/A	INTRINSIC
low complexity region	541	558	N/A	INTRINSIC
low complexity region	707	722	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122327

SMART Domains

Protein: ENSMUSP00000112711
Gene: ENSMUSG00000044465

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	5.6e-98	PFAM
low complexity region	482	501	N/A	INTRINSIC
low complexity region	527	544	N/A	INTRINSIC
low complexity region	697	710	N/A	INTRINSIC
low complexity region	718	730	N/A	INTRINSIC
low complexity region	891	906	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137158

SMART Domains

Protein: ENSMUSP00000119184
Gene: ENSMUSG00000044465

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	259	7.2e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142559

Predicted Effect

probably benign
Transcript: ENSMUST00000210448

Predicted Effect

probably benign
Transcript: ENSMUST00000211549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210972

Predicted Effect

probably benign
Transcript: ENSMUST00000209233

Predicted Effect

probably benign
Transcript: ENSMUST00000179474

SMART Domains

Protein: ENSMUSP00000137163
Gene: ENSMUSG00000044465

Domain	Start	End	E-Value	Type
Pfam:RAI16-like	96	426	4.2e-98	PFAM
low complexity region	496	515	N/A	INTRINSIC
low complexity region	541	558	N/A	INTRINSIC
low complexity region	711	724	N/A	INTRINSIC
low complexity region	732	744	N/A	INTRINSIC
low complexity region	905	920	N/A	INTRINSIC

Meta Mutation Damage Score

0.1054

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,225,057 (GRCm39)	L512*	probably null	Het
Adam4	A	T	12: 81,467,485 (GRCm39)	F379I	probably benign	Het
Ano6	C	G	15: 95,863,906 (GRCm39)		probably benign	Het
Apc2	A	G	10: 80,148,903 (GRCm39)	E1319G	possibly damaging	Het
Arfgef3	A	G	10: 18,473,535 (GRCm39)	V1588A	possibly damaging	Het
Arl8a	T	A	1: 135,080,604 (GRCm39)	V93E	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Cd200r2	T	A	16: 44,729,630 (GRCm39)	I95N	probably damaging	Het
Cd209d	A	G	8: 3,928,436 (GRCm39)		probably null	Het
Cep290	A	G	10: 100,397,100 (GRCm39)		probably null	Het
Chd2	G	T	7: 73,157,631 (GRCm39)	D171E	possibly damaging	Het
Chrna7	G	A	7: 62,748,994 (GRCm39)	A496V	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Colgalt1	C	G	8: 72,076,385 (GRCm39)	T612S	probably benign	Het
Copg2	T	C	6: 30,787,893 (GRCm39)	K602E	probably benign	Het
Crtc1	T	A	8: 70,840,808 (GRCm39)	T473S	probably benign	Het
Ctbp2	A	T	7: 132,625,290 (GRCm39)		probably null	Het
Edem1	T	G	6: 108,829,504 (GRCm39)	M541R	probably damaging	Het
Ehmt1	A	C	2: 24,696,229 (GRCm39)	V953G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fgfr2	T	C	7: 129,828,968 (GRCm39)		probably null	Het
Focad	A	G	4: 88,039,567 (GRCm39)	D10G	probably damaging	Het
Gfus	G	T	15: 75,798,200 (GRCm39)	L191I	probably damaging	Het
Hsp90aa1	T	C	12: 110,659,840 (GRCm39)	N416S	probably damaging	Het
Hspb1	T	C	5: 135,917,950 (GRCm39)	F142L	probably benign	Het
Il17re	C	T	6: 113,439,314 (GRCm39)	H75Y	possibly damaging	Het
Kctd3	A	G	1: 188,713,568 (GRCm39)	I389T	probably damaging	Het
Lhx6	T	C	2: 35,981,402 (GRCm39)	D63G	probably benign	Het
Mepe	A	G	5: 104,485,327 (GRCm39)	T156A	possibly damaging	Het
Met	A	G	6: 17,534,197 (GRCm39)	Y680C	probably damaging	Het
Mrgpra3	T	C	7: 47,239,365 (GRCm39)	Y187C	possibly damaging	Het
Mst1	T	G	9: 107,960,151 (GRCm39)		probably null	Het
Myh13	T	A	11: 67,231,184 (GRCm39)	S394T	possibly damaging	Het
Nbeal1	T	A	1: 60,290,529 (GRCm39)	V1042E	probably damaging	Het
Ndrg4	T	A	8: 96,432,839 (GRCm39)	Y15*	probably null	Het
Neurl4	G	A	11: 69,797,900 (GRCm39)	R720H	probably damaging	Het
Nfkbia	A	G	12: 55,537,455 (GRCm39)		probably benign	Het
Nwd1	T	A	8: 73,389,055 (GRCm39)	M202K	probably benign	Het
Or10d4	G	T	9: 39,580,569 (GRCm39)	C72F	possibly damaging	Het
Or2av9	T	A	11: 58,381,546 (GRCm39)	I12F	probably benign	Het
Pate2	T	C	9: 35,581,036 (GRCm39)		probably benign	Het
Pibf1	A	G	14: 99,480,368 (GRCm39)	T715A	probably benign	Het
Pitpnm1	T	C	19: 4,160,935 (GRCm39)	L858P	probably benign	Het
Pla2g3	A	C	11: 3,443,115 (GRCm39)	S483R	probably benign	Het
Rad51ap2	T	A	12: 11,507,798 (GRCm39)	D573E	probably damaging	Het
Rho	T	C	6: 115,912,352 (GRCm39)		probably benign	Het
Rpl39l	A	T	16: 9,992,328 (GRCm39)	*52L	probably null	Het
Slco1a5	T	A	6: 142,194,501 (GRCm39)	R381W	possibly damaging	Het
Spns3	T	A	11: 72,441,059 (GRCm39)		probably benign	Het
Srgap2	A	G	1: 131,259,872 (GRCm39)	S493P	probably benign	Het
Tecpr2	T	C	12: 110,892,836 (GRCm39)	S293P	probably damaging	Het
Ttn	C	T	2: 76,583,211 (GRCm39)	V20815M	probably benign	Het
Ushbp1	T	C	8: 71,847,132 (GRCm39)	I167V	probably benign	Het
Wdr81	C	T	11: 75,340,231 (GRCm39)	A1296T	probably damaging	Het
Zmym2	A	G	14: 57,158,180 (GRCm39)	Y573C	probably benign	Het

Other mutations in Gm5901

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01563:Gm5901	APN	7	105,026,722 (GRCm39)	nonsense	probably null
IGL01668:Gm5901	APN	7	105,026,771 (GRCm39)	missense	probably benign	0.00
P0033:Gm5901	UTSW	7	105,026,712 (GRCm39)	missense	probably damaging	1.00
R0316:Gm5901	UTSW	7	105,026,522 (GRCm39)	missense	probably damaging	1.00
R0667:Gm5901	UTSW	7	105,026,697 (GRCm39)	missense	possibly damaging	0.62
R2987:Gm5901	UTSW	7	105,026,507 (GRCm39)	missense	probably benign
R4665:Gm5901	UTSW	7	105,026,438 (GRCm39)	missense	possibly damaging	0.50
R5103:Gm5901	UTSW	7	105,026,589 (GRCm39)	splice site	probably null
R5274:Gm5901	UTSW	7	105,026,655 (GRCm39)	missense	probably damaging	0.99
R5613:Gm5901	UTSW	7	105,026,532 (GRCm39)	missense	probably damaging	1.00
R6977:Gm5901	UTSW	7	105,026,367 (GRCm39)	missense	probably benign
R7090:Gm5901	UTSW	7	105,026,555 (GRCm39)	missense	probably benign
R7128:Gm5901	UTSW	7	105,027,408 (GRCm39)	missense	probably damaging	0.98
R8280:Gm5901	UTSW	7	105,027,105 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ACAGCGGTCACTACCTATTG -3'
(R):5'- CTGCTGAGCCTATTCCTTGG -3'

Sequencing Primer
(F):5'- AGCGGTCACTACCTATTGCTTTC -3'
(R):5'- GAGCCTATTCCTTGGTTATGTGCC -3'

Posted On

2014-11-11