Mutagenetix > Incidental Mutation

Incidental Mutation 'R8461:Gm5478'

655300

Institutional Source

Beutler Lab

Gene Symbol

Gm5478

Ensembl Gene

ENSMUSG00000095241

Gene Name

predicted pseudogene 5478

Synonyms

MMRRC Submission

067837-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R8461 (G1)

Quality Score

220.009

Status

Not validated

Chromosome

Chromosomal Location

101551455-101555815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101554652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 148 (L148Q)

Ref Sequence

ENSEMBL: ENSMUSP00000155269 (fasta)

Gene Model

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

AlphaFold

A0A2R8VHP3

Predicted Effect

probably benign
Transcript: ENSMUST00000100184

SMART Domains

Protein: ENSMUSP00000097759
Gene: ENSMUSG00000095241

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229963
AA Change: L148Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
4921539E11Rik	T	C	4: 103,112,712 (GRCm39)	D132G	probably benign	Het
Abca16	T	C	7: 120,035,918 (GRCm39)	F334L	possibly damaging	Het
Ache	T	C	5: 137,288,582 (GRCm39)	F96S	probably damaging	Het
Actg1	T	C	11: 120,239,010 (GRCm39)	T27A	unknown	Het
Ankrd27	T	C	7: 35,326,911 (GRCm39)	L752P	probably damaging	Het
Atp1a1	T	A	3: 101,496,405 (GRCm39)	T417S	probably benign	Het
Atp6v0a1	T	G	11: 100,935,400 (GRCm39)	L653R	possibly damaging	Het
Aurkb	T	C	11: 68,941,727 (GRCm39)	V293A	probably damaging	Het
C2cd5	A	T	6: 142,980,802 (GRCm39)	D654E	probably damaging	Het
Cacna1s	T	C	1: 136,001,440 (GRCm39)	V297A	possibly damaging	Het
Catsperg2	T	C	7: 29,404,744 (GRCm39)	D773G	possibly damaging	Het
Ccdc187	A	G	2: 26,183,814 (GRCm39)	L62P	probably damaging	Het
Cdh2	A	G	18: 16,783,522 (GRCm39)	V69A	probably benign	Het
D430041D05Rik	A	G	2: 103,998,280 (GRCm39)	V1156A	possibly damaging	Het
Defb37	G	A	8: 19,036,386 (GRCm39)	H45Y	unknown	Het
Dgke	T	C	11: 88,939,819 (GRCm39)	M367V	possibly damaging	Het
Dnah1	T	C	14: 31,027,915 (GRCm39)	K640R	probably benign	Het
Hhla1	A	T	15: 65,795,723 (GRCm39)	S494R	probably benign	Het
Kcne4	G	A	1: 78,795,433 (GRCm39)	S27N	probably benign	Het
Klhdc7b	A	T	15: 89,271,824 (GRCm39)	H244L	probably damaging	Het
Lrrc40	T	C	3: 157,764,371 (GRCm39)	S429P	possibly damaging	Het
Map3k21	A	T	8: 126,671,361 (GRCm39)	D883V	probably benign	Het
Med4	T	C	14: 73,755,468 (GRCm39)	S259P	unknown	Het
Mrm3	T	C	11: 76,135,158 (GRCm39)	I123T	probably damaging	Het
Mrpl1	T	A	5: 96,361,646 (GRCm39)	V11D	probably damaging	Het
Myl1	G	A	1: 66,983,994 (GRCm39)	P24L	unknown	Het
Necap2	T	C	4: 140,797,531 (GRCm39)	K168R	probably damaging	Het
Nnt	A	G	13: 119,505,038 (GRCm39)	S559P	unknown	Het
Nox4	T	C	7: 86,966,479 (GRCm39)	F197L	probably damaging	Het
Nup93	T	C	8: 95,007,963 (GRCm39)		probably null	Het
Nxph2	T	C	2: 23,211,529 (GRCm39)	V10A	unknown	Het
Or1e16	T	A	11: 73,285,982 (GRCm39)	I289F	probably damaging	Het
Or8c11	T	A	9: 38,289,777 (GRCm39)	V194D	probably damaging	Het
Or8k38	G	A	2: 86,487,890 (GRCm39)	T304I	probably benign	Het
P2ry2	G	T	7: 100,647,895 (GRCm39)	R137S	possibly damaging	Het
Plxnb3	T	C	X: 72,803,103 (GRCm39)	Y324H	probably damaging	Het
Pmpca	G	C	2: 26,285,046 (GRCm39)	E424Q	possibly damaging	Het
Ppme1	T	C	7: 100,021,012 (GRCm39)	S7G	probably benign	Het
Rabep1	T	A	11: 70,775,681 (GRCm39)	M85K	possibly damaging	Het
Ranbp2	T	C	10: 58,312,216 (GRCm39)	Y979H	probably damaging	Het
Rapgef5	T	C	12: 117,677,844 (GRCm39)	S360P	probably benign	Het
Rbm33	T	A	5: 28,592,970 (GRCm39)	H623Q	probably damaging	Het
Rev1	G	T	1: 38,122,868 (GRCm39)	T450K	possibly damaging	Het
Sec23ip	T	A	7: 128,373,926 (GRCm39)	L716Q	probably benign	Het
Sp2	T	C	11: 96,846,739 (GRCm39)	T535A	possibly damaging	Het
Syne1	A	G	10: 5,011,463 (GRCm39)	S61P	probably benign	Het
Tcf4	T	C	18: 69,598,501 (GRCm39)	V72A	probably benign	Het
Tmem131	G	A	1: 36,833,902 (GRCm39)	S1726F	probably damaging	Het
Trim13	T	C	14: 61,842,921 (GRCm39)	Y313H	probably benign	Het
Ttn	A	G	2: 76,611,437 (GRCm39)	V17365A	possibly damaging	Het
Uap1l1	G	A	2: 25,255,422 (GRCm39)	A69V	probably benign	Het
Upp2	A	G	2: 58,670,068 (GRCm39)	D258G	probably benign	Het
Vmn1r44	A	T	6: 89,870,701 (GRCm39)	H149L	possibly damaging	Het
Zbtb49	T	C	5: 38,358,453 (GRCm39)	D600G	probably benign	Het
Zfp869	G	T	8: 70,160,305 (GRCm39)	H89Q	probably benign	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
R5480:Gm5478	UTSW	15	101,552,100 (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
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'- AGGAGACTGGATTCCTCCTTC -3'
(R):5'- CTTCCTTAGAGAGGTGGTGC -3'

Sequencing Primer
(F):5'- AGACTGGATTCCTCCTTCTTTGTAAC -3'
(R):5'- TGGAGTATCCCTCTCAGACCCAG -3'

Posted On

2020-10-20