Mutagenetix > Incidental Mutation

Incidental Mutation 'R4396:Gm5414'

377712

Institutional Source

Beutler Lab

Gene Symbol

Gm5414

Ensembl Gene

ENSMUSG00000064232

Gene Name

predicted gene 5414

Synonyms

MMRRC Submission

041129-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R4396 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101532463-101536623 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 101534101 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 294 (E294A)

Ref Sequence

ENSEMBL: ENSMUSP00000059101 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062879]

AlphaFold

Q6IFZ8

Predicted Effect

probably damaging
Transcript: ENSMUST00000062879
AA Change: E294A

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

SMART Domains

Protein: ENSMUSP00000059101
Gene: ENSMUSG00000064232
AA Change: E294A

Domain	Start	End	E-Value	Type
Pfam:Keratin_2_head	15	148	3.3e-29	PFAM
Filament	151	464	1.4e-143	SMART
low complexity region	489	507	N/A	INTRINSIC
low complexity region	511	549	N/A	INTRINSIC

Meta Mutation Damage Score

0.8791

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	T	C	7: 119,195,143 (GRCm39)	F552L	probably damaging	Het
Actn2	A	G	13: 12,325,765 (GRCm39)	L70P	probably damaging	Het
Btbd7	A	G	12: 102,751,552 (GRCm39)	S1071P	probably benign	Het
Cd200r1	T	A	16: 44,586,417 (GRCm39)	W16R	probably benign	Het
Cdhr2	A	G	13: 54,863,478 (GRCm39)	N120D	probably damaging	Het
Col19a1	T	C	1: 24,549,947 (GRCm39)	T317A	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dmbt1	T	C	7: 130,718,361 (GRCm39)	L1683P	probably damaging	Het
Dynll1	A	T	5: 115,438,700 (GRCm39)	C2S	probably benign	Het
Elp2	T	A	18: 24,742,707 (GRCm39)	S80T	probably damaging	Het
Fat1	T	A	8: 45,405,383 (GRCm39)	N711K	probably damaging	Het
Fzd3	A	G	14: 65,473,054 (GRCm39)	I238T	probably damaging	Het
Galnt7	A	T	8: 57,991,215 (GRCm39)	F432I	probably damaging	Het
Gemin5	T	A	11: 58,030,375 (GRCm39)	T817S	probably benign	Het
H2-T5	C	A	17: 36,472,861 (GRCm39)		probably benign	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Kcnj4	C	A	15: 79,368,874 (GRCm39)	A369S	probably benign	Het
Llgl1	T	C	11: 60,596,834 (GRCm39)	V145A	probably benign	Het
Mdga1	T	C	17: 30,069,491 (GRCm39)	D185G	probably damaging	Het
Mettl2	A	G	11: 105,017,604 (GRCm39)	D38G	probably damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mpp4	T	C	1: 59,183,961 (GRCm39)	I260V	possibly damaging	Het
Mtcl1	T	C	17: 66,651,220 (GRCm39)	E1112G	probably damaging	Het
Mtus2	T	A	5: 148,140,748 (GRCm39)	N871K	possibly damaging	Het
Mylk	C	T	16: 34,732,645 (GRCm39)	Q642*	probably null	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Or4f57	A	G	2: 111,790,560 (GRCm39)	I286T	probably damaging	Het
Pdzd2	A	T	15: 12,387,732 (GRCm39)	D875E	probably benign	Het
Piezo1	G	T	8: 123,225,413 (GRCm39)	T557K	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Plxnb1	T	C	9: 108,929,291 (GRCm39)	V49A	possibly damaging	Het
Pramel6	A	T	2: 87,338,874 (GRCm39)	I25F	probably damaging	Het
Rreb1	C	T	13: 38,114,419 (GRCm39)	Q593*	probably null	Het
Scn8a	A	G	15: 100,870,711 (GRCm39)	N254S	probably damaging	Het
Scnn1g	T	G	7: 121,339,650 (GRCm39)	S150A	probably benign	Het
Sec24a	A	G	11: 51,605,991 (GRCm39)	F686L	possibly damaging	Het
Sirt1	T	C	10: 63,157,777 (GRCm39)	T546A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Traf5	A	T	1: 191,729,806 (GRCm39)	V415E	probably benign	Het
Traip	C	G	9: 107,836,686 (GRCm39)	T110S	probably benign	Het
Treml2	T	C	17: 48,615,142 (GRCm39)	V209A	probably benign	Het
Trpv5	T	C	6: 41,634,830 (GRCm39)	S500G	probably benign	Het
Usp32	G	A	11: 84,944,801 (GRCm39)	L296F	probably benign	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Zswim1	A	G	2: 164,667,369 (GRCm39)	D207G	probably damaging	Het

Other mutations in Gm5414

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Gm5414	APN	15	101,536,569 (GRCm39)	missense	probably benign	0.00
IGL01774:Gm5414	APN	15	101,535,410 (GRCm39)	missense	probably benign	0.13
IGL01939:Gm5414	APN	15	101,534,105 (GRCm39)	splice site	probably benign
IGL02205:Gm5414	APN	15	101,534,304 (GRCm39)	missense	probably benign	0.44
IGL02411:Gm5414	APN	15	101,536,269 (GRCm39)	missense	probably benign	0.05
IGL02720:Gm5414	APN	15	101,533,990 (GRCm39)	missense	probably damaging	1.00
IGL02900:Gm5414	APN	15	101,536,242 (GRCm39)	missense	probably damaging	0.99
IGL03283:Gm5414	APN	15	101,535,522 (GRCm39)	missense	probably damaging	1.00
PIT4480001:Gm5414	UTSW	15	101,536,181 (GRCm39)	missense	probably damaging	1.00
PIT4504001:Gm5414	UTSW	15	101,534,258 (GRCm39)	missense	probably damaging	0.98
R1905:Gm5414	UTSW	15	101,533,075 (GRCm39)	missense	probably damaging	1.00
R2070:Gm5414	UTSW	15	101,536,495 (GRCm39)	missense	possibly damaging	0.52
R3011:Gm5414	UTSW	15	101,534,047 (GRCm39)	missense	probably damaging	1.00
R3033:Gm5414	UTSW	15	101,533,044 (GRCm39)	missense	probably damaging	1.00
R4074:Gm5414	UTSW	15	101,533,988 (GRCm39)	missense	probably benign
R4257:Gm5414	UTSW	15	101,533,107 (GRCm39)	missense	probably damaging	1.00
R4648:Gm5414	UTSW	15	101,536,543 (GRCm39)	missense	possibly damaging	0.72
R4912:Gm5414	UTSW	15	101,533,445 (GRCm39)	missense	possibly damaging	0.46
R5095:Gm5414	UTSW	15	101,532,473 (GRCm39)	missense	probably benign	0.01
R5135:Gm5414	UTSW	15	101,536,203 (GRCm39)	missense	probably damaging	0.97
R5177:Gm5414	UTSW	15	101,534,252 (GRCm39)	missense	possibly damaging	0.91
R5330:Gm5414	UTSW	15	101,533,099 (GRCm39)	missense	probably damaging	1.00
R5331:Gm5414	UTSW	15	101,533,099 (GRCm39)	missense	probably damaging	1.00
R5432:Gm5414	UTSW	15	101,533,069 (GRCm39)	missense	probably damaging	1.00
R5521:Gm5414	UTSW	15	101,536,422 (GRCm39)	missense	probably benign	0.33
R5623:Gm5414	UTSW	15	101,534,246 (GRCm39)	missense	probably damaging	1.00
R6781:Gm5414	UTSW	15	101,534,096 (GRCm39)	missense	possibly damaging	0.91
R8298:Gm5414	UTSW	15	101,532,605 (GRCm39)	missense	unknown
R8912:Gm5414	UTSW	15	101,536,620 (GRCm39)	missense	possibly damaging	0.94
R9092:Gm5414	UTSW	15	101,536,345 (GRCm39)	missense	probably benign	0.01
R9721:Gm5414	UTSW	15	101,536,582 (GRCm39)	nonsense	probably null
RF001:Gm5414	UTSW	15	101,536,388 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTCATGGAGTTCAGGGTGG -3'
(R):5'- GCCAAGGTCCACAGTTTGATAG -3'

Sequencing Primer
(F):5'- GTCCCAGGCATCCTCATCAG -3'
(R):5'- GGTCCACAGTTTGATAGATGAGATC -3'

Posted On

2016-03-21