Mutagenetix > Incidental Mutation

Incidental Mutation 'R9172:Gm5415'

696443

Institutional Source

Beutler Lab

Gene Symbol

Gm5415

Ensembl Gene

ENSMUSG00000091318

Gene Name

predicted gene 5415

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R9172 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32543686-32547294 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32546084 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 248 (H248Q)

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: H248Q

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

SMART Domains

Protein: ENSMUSP00000132789
Gene: ENSMUSG00000091318
AA Change: H248Q

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	T	C	7: 127,385,454	K159E	probably benign	Het
Accsl	A	T	2: 93,861,488	L332Q	probably damaging	Het
Adcy1	A	G	11: 7,160,317	N855D	probably damaging	Het
Adgrl3	T	A	5: 81,774,404	C1199S	probably benign	Het
Alyref	G	A	11: 120,596,016	R140C	probably benign	Het
Arhgap26	A	T	18: 39,245,329	I92F	probably damaging	Het
Atp9b	G	A	18: 80,917,778	R73*	probably null	Het
Btaf1	G	A	19: 37,000,230	A1483T	probably damaging	Het
Casc1	A	G	6: 145,177,449	F564L	probably benign	Het
Cmtr2	T	C	8: 110,222,129	L357P	probably damaging	Het
Commd7	A	T	2: 153,628,554	L51Q	possibly damaging	Het
Cpd	T	A	11: 76,784,426	I1290L	probably benign	Het
Cry2	C	A	2: 92,413,648	E393D	probably damaging	Het
Ctsm	A	T	13: 61,537,829	M74K		Het
Dync2h1	T	C	9: 7,031,771	Y3491C	probably damaging	Het
Erc1	A	C	6: 119,824,881	N58K	possibly damaging	Het
Fbxw21	T	C	9: 109,146,696	T211A	probably benign	Het
Fry	T	C	5: 150,413,328	V1388A	probably benign	Het
Fuk	A	G	8: 110,883,925	W949R	probably damaging	Het
Gca	T	G	2: 62,690,024	I176S	probably damaging	Het
Gimap7	A	T	6: 48,723,827	K116*	probably null	Het
Gm40460	ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,710		probably benign	Het
Gm906	A	G	13: 50,247,381	F303S	probably benign	Het
Gm9195	A	C	14: 72,473,714	L428R	probably damaging	Het
Grin2b	A	G	6: 135,779,257	I490T	possibly damaging	Het
Kif24	T	C	4: 41,400,442	T499A	probably benign	Het
Mbtps1	G	A	8: 119,533,369	T413I	probably damaging	Het
Med4	A	T	14: 73,513,925	S105C	probably benign	Het
Mgat1	G	A	11: 49,261,083	R131Q	probably damaging	Het
Mroh4	T	C	15: 74,606,112	*984W	probably null	Het
Mybpc1	T	C	10: 88,543,753	E628G	possibly damaging	Het
Myh8	C	T	11: 67,292,434	P713L	possibly damaging	Het
Myo7a	T	C	7: 98,083,162	D706G	probably benign	Het
Nbas	T	A	12: 13,374,750	C997S	possibly damaging	Het
Nkx2-1	C	A	12: 56,534,967	G32C	probably damaging	Het
Npas3	A	G	12: 54,065,870	T466A	probably benign	Het
Olfr1085	T	A	2: 86,657,535	I308L	probably benign	Het
Olfr487	T	C	7: 108,211,962	E189G	probably benign	Het
Opa1	C	T	16: 29,620,414	R683C	probably benign	Het
Opa3	C	T	7: 19,255,541	R110C	probably damaging	Het
Ppfibp2	T	A	7: 107,738,318	L609*	probably null	Het
Pygo2	T	A	3: 89,433,310	D338E	possibly damaging	Het
Pzp	A	T	6: 128,525,209	M59K	probably benign	Het
Reln	A	G	5: 21,950,817		probably null	Het
Ripor1	A	G	8: 105,621,201	D1097G	unknown	Het
Rmdn3	T	C	2: 119,138,382	K443E	probably benign	Het
Rnf145	A	G	11: 44,557,435	D373G	possibly damaging	Het
Sec23b	A	T	2: 144,559,259	E13D	probably benign	Het
Slc39a6	A	G	18: 24,582,342	F707S	probably damaging	Het
Sox11	G	A	12: 27,341,537	A291V	possibly damaging	Het
Spg20	T	A	3: 55,124,846	V367D	possibly damaging	Het
Strap	A	T	6: 137,741,367	K156N	probably benign	Het
Stxbp5	T	A	10: 9,769,408	I951F	possibly damaging	Het
Taar7a	T	C	10: 23,992,779	I235V	probably benign	Het
Tek	T	A	4: 94,804,346	N230K	probably benign	Het
Tyw1	T	A	5: 130,296,679	C469*	probably null	Het
Vcan	T	C	13: 89,679,931	H3132R	probably damaging	Het
Vmn2r24	A	G	6: 123,806,473	D544G	probably damaging	Het
Vmn2r3	A	T	3: 64,278,982	M94K	possibly damaging	Het
Vps33a	T	C	5: 123,536,541	T388A	probably benign	Het
Vta1	A	G	10: 14,675,999	I152T	probably damaging	Het
Vtcn1	A	G	3: 100,892,549	D242G	probably benign	Het
Zfp12	T	A	5: 143,245,465	C548S	probably damaging	Het
Zfp263	A	G	16: 3,749,459	D546G	probably benign	Het
Zfp324	T	A	7: 12,970,762	C293S	probably damaging	Het
Zscan4c	A	T	7: 11,009,892	I473F	possibly damaging	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
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
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'- ACCTCATCATTGAGCCACTG -3'
(R):5'- ACTGTTGTGGCTCTAAAAGAATGTC -3'

Sequencing Primer
(F):5'- GAGCCACTGACCATTCTTCAGG -3'
(R):5'- ATGTCTTTCACCAGACGAGAG -3'

Posted On

2022-02-07