Mutagenetix > Incidental Mutation

Incidental Mutation 'R5184:Gm5415'

397719

Institutional Source

Beutler Lab

Gene Symbol

Gm5415

Ensembl Gene

ENSMUSG00000091318

Gene Name

predicted gene 5415

Synonyms

MMRRC Submission

042763-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.315) question?

Stock #

R5184 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32543686-32547294 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32545648 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 394 (C394S)

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 damaging
Transcript: ENSMUST00000171322
AA Change: C394S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132789
Gene: ENSMUSG00000091318
AA Change: C394S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195761

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

98% (63/64)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aph1a	T	A	3: 95,895,739		probably null	Het
Arid3a	A	G	10: 79,950,769	E452G	possibly damaging	Het
Barhl2	A	G	5: 106,457,640	S68P	unknown	Het
BC030499	T	C	11: 78,292,747	F194L	probably benign	Het
Carf	T	C	1: 60,108,174	S17P	probably damaging	Het
Ccdc90b	A	G	7: 92,574,811	D145G	probably damaging	Het
Cyp7a1	A	T	4: 6,271,207	N316K	probably benign	Het
Daam2	A	G	17: 49,494,391	I106T	possibly damaging	Het
Dmtf1	A	G	5: 9,126,641	V437A	probably benign	Het
E2f2	A	T	4: 136,184,440	Y254F	possibly damaging	Het
Ehmt1	G	T	2: 24,877,497	P135T	probably damaging	Het
Ern2	T	C	7: 122,179,959	T221A	probably benign	Het
Fam227b	G	A	2: 126,116,123	P241S	probably damaging	Het
Fermt1	A	G	2: 132,941,963	V42A	possibly damaging	Het
Fgf3	A	G	7: 144,842,810	D187G	probably damaging	Het
Flnb	T	A	14: 7,901,945	V936E	probably damaging	Het
Herc2	T	C	7: 56,122,351	Y1093H	probably damaging	Het
Invs	A	G	4: 48,283,242		probably benign	Het
Katnb1	T	A	8: 95,097,980	I534N	possibly damaging	Het
Kcnq5	A	T	1: 21,402,487	D826E	probably damaging	Het
Klra9	A	T	6: 130,188,712	N113K	probably benign	Het
Knl1	A	G	2: 119,069,176	K453E	probably damaging	Het
Lgi4	C	T	7: 31,070,757		probably benign	Het
Lpin3	A	G	2: 160,897,138	S289G	probably benign	Het
Mapre1	T	A	2: 153,758,067	V137E	possibly damaging	Het
Mark4	A	G	7: 19,447,243	F144L	possibly damaging	Het
Mogat2	G	T	7: 99,223,635	A114E	possibly damaging	Het
Msh2	C	A	17: 87,723,413	A906E	probably benign	Het
Nell2	A	G	15: 95,527,809	L19P	possibly damaging	Het
Nfia	A	T	4: 97,783,348	K98N	probably damaging	Het
Nutm1	T	A	2: 112,249,000	T857S	possibly damaging	Het
Olfr146	T	A	9: 39,018,702	I280F	probably damaging	Het
Olfr298	TG	T	7: 86,489,291		probably null	Het
Olfr68	T	C	7: 103,777,404	K314E	probably benign	Het
Pde10a	T	C	17: 8,977,155	L706P	probably damaging	Het
Penk	A	G	4: 4,134,296	L117P	probably damaging	Het
Pgap1	A	G	1: 54,481,856	S876P	probably damaging	Het
Pmfbp1	T	C	8: 109,527,767	I478T	possibly damaging	Het
Pole	G	A	5: 110,294,934	E318K	possibly damaging	Het
Prr12	C	A	7: 45,046,377	V1222L	unknown	Het
Prune2	T	C	19: 17,216,357	S3070P	possibly damaging	Het
Rnf19a	A	G	15: 36,244,196	C573R	probably benign	Het
Rp1l1	T	C	14: 64,030,180	S1072P	probably damaging	Het
Sh3pxd2a	T	C	19: 47,273,411	N315S	possibly damaging	Het
Snph	T	C	2: 151,594,544	I86V	probably damaging	Het
Sox6	A	G	7: 115,777,228	Y90H	probably damaging	Het
Tbc1d13	T	A	2: 30,142,311	C145S	probably benign	Het
Tcp11l1	T	C	2: 104,699,944	E65G	probably damaging	Het
Thrb	G	T	14: 18,011,181	E186*	probably null	Het
Tmem101	A	G	11: 102,156,233	Y38H	possibly damaging	Het
Tusc5	T	A	11: 76,680,308	L50Q	probably damaging	Het
Urb1	A	T	16: 90,783,274		probably null	Het
Usp10	G	A	8: 119,956,681	V764I	possibly damaging	Het
Usp25	A	G	16: 77,109,227	E857G	probably benign	Het
Vmn1r17	A	G	6: 57,360,843	V130A	probably benign	Het
Wdr35	T	C	12: 9,018,142	L775P	probably damaging	Het
Xpnpep1	T	C	19: 53,013,414	T134A	probably benign	Het
Zbtb10	T	C	3: 9,264,671	V363A	probably damaging	Het
Zfp108	G	T	7: 24,260,738	K251N	probably benign	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
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
R6746:Gm5415	UTSW	1	32546763	missense	probably benign
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'- TCTTCCTGAAGGTGGGCATG -3'
(R):5'- TACCCCAAGCTAAAGCATAGTG -3'

Sequencing Primer
(F):5'- AAAAGGTCACAGGCTGGTCCC -3'
(R):5'- CCAAGCTAAAGCATAGTGGTTAC -3'

Posted On

2016-07-06