Mutagenetix > Incidental Mutation

Incidental Mutation 'R5480:Gm5478'

434281

Institutional Source

Beutler Lab

Gene Symbol

Gm5478

Ensembl Gene

ENSMUSG00000095241

Gene Name

predicted pseudogene 5478

Synonyms

MMRRC Submission

043041-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R5480 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

101551455-101555815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101552100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 445 (S445P)

Ref Sequence

ENSEMBL: ENSMUSP00000155269 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100184] [ENSMUST00000229963]

AlphaFold

A0A2R8VHP3

Predicted Effect

probably damaging
Transcript: ENSMUST00000100184
AA Change: S134P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097759
Gene: ENSMUSG00000095241
AA Change: S134P

Domain	Start	End	E-Value	Type
Pfam:Filament	1	114	1.1e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196489

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229579

Predicted Effect

probably damaging
Transcript: ENSMUST00000229963
AA Change: S445P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230401

Meta Mutation Damage Score

0.1300

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.7%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh7	A	G	17: 57,306,131 (GRCm39)		probably benign	Het
Alpk2	A	G	18: 65,482,979 (GRCm39)	L343S	probably damaging	Het
Btbd10	T	A	7: 112,915,914 (GRCm39)	R392W	probably damaging	Het
Camkv	A	G	9: 107,824,074 (GRCm39)	D216G	probably damaging	Het
Col22a1	T	C	15: 71,836,460 (GRCm39)	D525G	probably damaging	Het
Dqx1	A	T	6: 83,041,784 (GRCm39)	D542V	probably damaging	Het
Epha8	T	C	4: 136,662,441 (GRCm39)	T539A	probably benign	Het
Faap100	T	C	11: 120,267,939 (GRCm39)	E278G	probably damaging	Het
Fat2	A	G	11: 55,200,912 (GRCm39)	S721P	probably damaging	Het
Fcgbpl1	T	A	7: 27,857,424 (GRCm39)	C2257*	probably null	Het
Frem2	A	T	3: 53,563,928 (GRCm39)	L193*	probably null	Het
Gfy	C	A	7: 44,826,657 (GRCm39)	V394F	probably benign	Het
Gipr	A	G	7: 18,894,579 (GRCm39)	L241P	probably damaging	Het
Ift140	G	T	17: 25,239,550 (GRCm39)	W69L	probably damaging	Het
Kat6a	T	A	8: 23,428,323 (GRCm39)	M1226K	possibly damaging	Het
Klk12	T	G	7: 43,420,482 (GRCm39)	H140Q	probably benign	Het
Map3k14	A	G	11: 103,130,330 (GRCm39)	F196L	probably benign	Het
Mblac2	T	A	13: 81,898,395 (GRCm39)	V257E	possibly damaging	Het
Pcdha11	A	G	18: 37,138,935 (GRCm39)	E188G	probably benign	Het
Pdzd7	T	C	19: 45,027,724 (GRCm39)	N250S	possibly damaging	Het
Phkb	A	G	8: 86,648,811 (GRCm39)	D209G	probably damaging	Het
Pigs	T	G	11: 78,219,901 (GRCm39)	I92S	possibly damaging	Het
Pigz	G	T	16: 31,763,439 (GRCm39)	G166C	probably damaging	Het
Pkd1l2	C	A	8: 117,757,388 (GRCm39)	R1550L	probably damaging	Het
Pkd2l1	A	G	19: 44,180,595 (GRCm39)	V40A	probably benign	Het
Plxna1	A	T	6: 89,301,616 (GRCm39)	M1470K	probably damaging	Het
Polq	T	A	16: 36,833,652 (GRCm39)		probably benign	Het
Prune2	A	G	19: 17,098,311 (GRCm39)	T1272A	possibly damaging	Het
Rfwd3	A	T	8: 112,000,464 (GRCm39)	D720E	probably damaging	Het
Rgs12	C	G	5: 35,123,455 (GRCm39)	Q413E	probably benign	Het
Rhobtb1	T	A	10: 69,106,563 (GRCm39)	V376D	possibly damaging	Het
Rrp8	C	T	7: 105,383,336 (GRCm39)	S310N	probably damaging	Het
S100a3	C	T	3: 90,509,591 (GRCm39)	L79F	probably damaging	Het
Setbp1	C	A	18: 78,901,278 (GRCm39)	M796I	probably damaging	Het
Sipa1	A	G	19: 5,709,658 (GRCm39)	L254P	possibly damaging	Het
Slc4a7	C	G	14: 14,782,138 (GRCm38)	H964Q	probably damaging	Het
Strc	G	T	2: 121,195,300 (GRCm39)	P1661Q	probably benign	Het
Taf5l	A	T	8: 124,736,559 (GRCm39)	V4E	possibly damaging	Het
Tbc1d15	T	C	10: 115,069,123 (GRCm39)	E82G	probably damaging	Het
Thada	A	G	17: 84,739,682 (GRCm39)	S858P	probably benign	Het
Ticrr	T	C	7: 79,310,557 (GRCm39)	V157A	probably damaging	Het
Trim21	T	C	7: 102,208,463 (GRCm39)	T419A	probably benign	Het
Vmn2r60	G	T	7: 41,785,154 (GRCm39)	W122L	probably damaging	Het
Vwa3b	C	A	1: 37,139,787 (GRCm39)	Y369*	probably null	Het
Ythdf3	T	C	3: 16,237,664 (GRCm39)	S2P	possibly damaging	Het

Other mutations in Gm5478

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03137:Gm5478	APN	15	101,552,817 (GRCm39)	missense	probably benign	0.00
R0325:Gm5478	UTSW	15	101,552,761 (GRCm39)	missense	probably damaging	1.00
R0607:Gm5478	UTSW	15	101,553,059 (GRCm39)	missense	probably damaging	1.00
R1476:Gm5478	UTSW	15	101,553,080 (GRCm39)	missense	probably damaging	1.00
R1962:Gm5478	UTSW	15	101,552,830 (GRCm39)	missense	probably damaging	1.00
R2924:Gm5478	UTSW	15	101,552,229 (GRCm39)	critical splice donor site	probably null
R3236:Gm5478	UTSW	15	101,552,738 (GRCm39)	missense	probably damaging	1.00
R4133:Gm5478	UTSW	15	101,553,080 (GRCm39)	missense	probably damaging	1.00
R5267:Gm5478	UTSW	15	101,552,837 (GRCm39)	missense	probably damaging	1.00
R5524:Gm5478	UTSW	15	101,553,102 (GRCm39)	missense	probably benign	0.31
R6959:Gm5478	UTSW	15	101,553,883 (GRCm39)	missense	probably damaging	0.99
R7035:Gm5478	UTSW	15	101,553,632 (GRCm39)	missense	possibly damaging	0.84
R8458:Gm5478	UTSW	15	101,553,862 (GRCm39)	missense	probably benign	0.00
R8461:Gm5478	UTSW	15	101,554,652 (GRCm39)	missense	probably damaging	1.00
R8725:Gm5478	UTSW	15	101,553,871 (GRCm39)	missense	probably damaging	1.00
R8727:Gm5478	UTSW	15	101,553,871 (GRCm39)	missense	probably damaging	1.00
R9448:Gm5478	UTSW	15	101,553,662 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGATGGTGGAAGGATTGCC -3'
(R):5'- ACAGATTGAGGGTTCCCATTG -3'

Sequencing Primer
(F):5'- GGATTGCCAACAGAGGAGTTG -3'
(R):5'- GTGATGGCTGCCTAGTTCTCAC -3'

Posted On

2016-10-06