Mutagenetix > Incidental Mutation

Incidental Mutation 'R6746:Gm5415'

532811

Institutional Source

Beutler Lab

Gene Symbol

Gm5415

Ensembl Gene

ENSMUSG00000091318

Gene Name

predicted gene 5415

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R6746 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32543686-32547294 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32546763 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 22 (I22N)

Ref Sequence

ENSEMBL: ENSMUSP00000132789 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027226] [ENSMUST00000171322]

AlphaFold

E9PXF3

Predicted Effect

probably benign
Transcript: ENSMUST00000027226

SMART Domains

Protein: ENSMUSP00000027226
Gene: ENSMUSG00000026058

Domain	Start	End	E-Value	Type
low complexity region	41	48	N/A	INTRINSIC
KH	58	156	4.93e-7	SMART
low complexity region	185	197	N/A	INTRINSIC
low complexity region	204	231	N/A	INTRINSIC
Pfam:Sam68-YY	267	321	1.3e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171322
AA Change: I22N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132789
Gene: ENSMUSG00000091318
AA Change: I22N

Domain	Start	End	E-Value	Type
low complexity region	137	150	N/A	INTRINSIC
Pfam:Peptidase_C48	298	477	7.4e-44	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,346,221	L79*	probably null	Het
Acot3	A	G	12: 84,053,474	N8S	probably benign	Het
Adora2a	T	C	10: 75,333,608	V302A	probably benign	Het
Anpep	A	C	7: 79,839,185		probably null	Het
Arrb1	A	G	7: 99,601,150	K392E	probably benign	Het
Atp8a1	A	T	5: 67,751,049	N444K	probably benign	Het
Brinp2	C	T	1: 158,266,590	G181R	probably benign	Het
Cacna1g	A	T	11: 94,409,427	C2184*	probably null	Het
Cacna1h	C	T	17: 25,381,550	A1606T	probably damaging	Het
Ccdc155	C	T	7: 45,200,311	V63I	probably benign	Het
Ccdc30	T	C	4: 119,356,718	T205A	probably benign	Het
Celsr1	A	G	15: 86,031,495	I759T	probably damaging	Het
Chaf1a	A	G	17: 56,063,404	D623G	possibly damaging	Het
Col6a3	G	T	1: 90,779,045	N2115K	unknown	Het
Dync1h1	A	T	12: 110,651,653	T3209S	probably damaging	Het
Erich6	T	C	3: 58,616,566	D629G	possibly damaging	Het
Fahd1	G	T	17: 24,849,941	A54E	probably damaging	Het
Flrt3	C	T	2: 140,660,025	R561Q	probably damaging	Het
Grm6	A	T	11: 50,856,963	D334V	probably damaging	Het
Helb	A	T	10: 120,105,468	D438E	probably damaging	Het
Hmgcs1	T	C	13: 119,695,049		probably null	Het
Hnf4g	C	A	3: 3,657,110	Y441*	probably null	Het
Hrasls5	A	G	19: 7,613,330	D74G	probably benign	Het
Hspa13	A	T	16: 75,765,037	N91K	possibly damaging	Het
Ilvbl	T	C	10: 78,577,223	I193T	possibly damaging	Het
Itga7	T	C	10: 128,949,472	V848A	probably benign	Het
Lpin1	A	G	12: 16,565,528	M341T	probably benign	Het
Lypd5	G	T	7: 24,353,106		probably null	Het
Mrgprb1	A	C	7: 48,447,897	V89G	possibly damaging	Het
Nsun7	T	C	5: 66,283,737		probably null	Het
Oasl1	T	A	5: 114,937,183	V434E	probably damaging	Het
Olfr1008	T	C	2: 85,689,608	Y60H	probably damaging	Het
Olfr319	G	A	11: 58,702,543	V281I	probably benign	Het
Olfr837	A	G	9: 19,137,478	M162V	probably benign	Het
Otor	T	A	2: 143,080,035		probably null	Het
Pik3cg	G	A	12: 32,194,758	T899M	probably damaging	Het
Pld2	C	A	11: 70,541,107	L52M	probably damaging	Het
Pon3	A	T	6: 5,230,786	M247K	possibly damaging	Het
Ppfia2	C	A	10: 106,906,458	Y1037*	probably null	Het
Ppm1m	A	T	9: 106,198,152	C99*	probably null	Het
Prss44	A	T	9: 110,815,293	*145C	probably null	Het
Ptpro	T	A	6: 137,394,823	Y613N	probably damaging	Het
Ralgapb	T	G	2: 158,476,136	V866G	probably damaging	Het
Rassf6	C	A	5: 90,609,774	R109L	possibly damaging	Het
Rbm4b	A	C	19: 4,762,003	T147P	probably benign	Het
Rpl7l1	T	C	17: 46,779,396	K104R	probably benign	Het
Ryr1	A	T	7: 29,117,404	I69N	possibly damaging	Het
Scd1	G	T	19: 44,406,488	F99L	probably benign	Het
Spint2	A	T	7: 29,259,423	S66T	probably benign	Het
Tarm1	T	A	7: 3,502,462	I2F	probably benign	Het
Tenm4	T	C	7: 96,892,860	V1860A	probably damaging	Het
Uhrf1bp1l	T	A	10: 89,787,158	N298K	probably benign	Het
Usp38	A	G	8: 81,014,291	I49T	possibly damaging	Het
Vars2	A	G	17: 35,660,402		probably null	Het
Vmn2r27	T	G	6: 124,200,593	H484P	possibly damaging	Het
Wdr35	T	A	12: 9,003,982		probably null	Het
Zfp937	A	T	2: 150,239,423	K458*	probably null	Het

Other mutations in Gm5415

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Gm5415	APN	1	32546667	missense	probably benign
IGL01148:Gm5415	APN	1	32545654	missense	possibly damaging	0.88
IGL02323:Gm5415	APN	1	32545704	nonsense	probably null
IGL03076:Gm5415	APN	1	32545545	missense	probably damaging	1.00
IGL03288:Gm5415	APN	1	32545760	missense	probably benign	0.09
PIT4576001:Gm5415	UTSW	1	32546472	missense	probably damaging	1.00
R0110:Gm5415	UTSW	1	32545875	missense	possibly damaging	0.87
R0510:Gm5415	UTSW	1	32545875	missense	possibly damaging	0.87
R0891:Gm5415	UTSW	1	32546361	missense	possibly damaging	0.54
R1836:Gm5415	UTSW	1	32545677	missense	probably damaging	1.00
R1939:Gm5415	UTSW	1	32545546	missense	probably damaging	0.99
R2156:Gm5415	UTSW	1	32546047	missense	probably benign	0.08
R2226:Gm5415	UTSW	1	32545853	missense	probably damaging	1.00
R2422:Gm5415	UTSW	1	32545861	missense	possibly damaging	0.73
R4761:Gm5415	UTSW	1	32546507	missense	possibly damaging	0.51
R4901:Gm5415	UTSW	1	32546620	missense	probably benign	0.00
R5129:Gm5415	UTSW	1	32545479	missense	probably damaging	1.00
R5129:Gm5415	UTSW	1	32545480	missense	probably damaging	1.00
R5184:Gm5415	UTSW	1	32545648	missense	probably damaging	0.99
R5259:Gm5415	UTSW	1	32545517	nonsense	probably null
R6271:Gm5415	UTSW	1	32545491	missense	probably damaging	1.00
R6589:Gm5415	UTSW	1	32546711	missense	probably benign	0.44
R7720:Gm5415	UTSW	1	32546097	missense	probably benign	0.00
R7855:Gm5415	UTSW	1	32546033	missense	probably damaging	0.96
R8006:Gm5415	UTSW	1	32546924	start gained	probably benign
R8177:Gm5415	UTSW	1	32546376	missense	probably benign
R8946:Gm5415	UTSW	1	32546604	missense	probably benign	0.02
R9172:Gm5415	UTSW	1	32546084	missense	probably benign
R9455:Gm5415	UTSW	1	32546826	start codon destroyed	probably null
X0024:Gm5415	UTSW	1	32545711	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- TTACAACCTGCTCTGGAGGACC -3'
(R):5'- TGAGCCAGGCATAAGGTTGC -3'

Sequencing Primer
(F):5'- ACCTTCGGTCAACTCTAGGG -3'
(R):5'- CTTTTGCTTGGAAAGTGAAAGAGCAC -3'

Posted On

2018-08-29