Mutagenetix > Incidental Mutations

Incidental Mutation 'R7166:Gm5580'

557936

Institutional Source

Beutler Lab

Gene Symbol

Gm5580

Ensembl Gene

ENSMUSG00000107906

Gene Name

predicted pseudogene 5580

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.225) question?

Stock #

R7166 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

116551141-116552502 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116551368 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 69 (I69V)

Ref Sequence

ENSEMBL: ENSMUSP00000145194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122096] [ENSMUST00000203867] [ENSMUST00000214699] [ENSMUST00000215846] [ENSMUST00000217313]

Predicted Effect

probably benign
Transcript: ENSMUST00000122096
AA Change: I69V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000145194
Gene: ENSMUSG00000107906
AA Change: I69V

Domain	Start	End	E-Value	Type
DEXDc	57	254	2.4e-59	SMART
HELICc	291	372	6.6e-38	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203867

SMART Domains

Protein: ENSMUSP00000145465
Gene: ENSMUSG00000051046

Domain	Start	End	E-Value	Type
Pfam:7tm_4	39	316	4.7e-47	PFAM
Pfam:7tm_1	49	298	5.9e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000214699

Predicted Effect

probably benign
Transcript: ENSMUST00000215846

Predicted Effect

probably benign
Transcript: ENSMUST00000217313

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ambn	T	C	5: 88,467,528	L272P	possibly damaging	Het
Ash2l	C	A	8: 25,827,320	G335V	probably damaging	Het
Atp13a1	T	A	8: 69,799,316		probably null	Het
Atp13a2	G	A	4: 141,006,984	R1139Q	possibly damaging	Het
Atxn2	T	A	5: 121,796,397	N886K	possibly damaging	Het
Celsr3	G	T	9: 108,842,951	C2512F	probably damaging	Het
Cfap221	A	G	1: 119,948,113	V449A	probably benign	Het
Cfhr2	A	T	1: 139,831,101	C70*	probably null	Het
Chfr	C	A	5: 110,158,805	P472Q	probably benign	Het
Crybg2	G	A	4: 134,060,882	R22Q	probably damaging	Het
Eef2k	T	C	7: 120,884,772	F244L	probably damaging	Het
Efcab11	A	T	12: 99,883,355	M23K		Het
Ercc8	T	A	13: 108,169,433	M114K	possibly damaging	Het
Fam217a	T	C	13: 34,910,315	Y487C	probably benign	Het
Farsb	T	C	1: 78,471,184	N205S	probably benign	Het
Glra1	A	G	11: 55,515,078	F370S	probably benign	Het
Gm12258	T	A	11: 58,858,473	M158K		Het
Gm14305	T	A	2: 176,720,943	H209Q	probably damaging	Het
Gm4924	A	T	10: 82,378,201	Q611L	unknown	Het
Haus6	T	C	4: 86,583,687	E649G	possibly damaging	Het
Hist1h4j	A	G	13: 21,735,151	H19R	unknown	Het
Hlcs	C	T	16: 94,262,726	D345N	possibly damaging	Het
Htt	C	A	5: 34,852,894	Q1564K	probably benign	Het
Itpr1	G	A	6: 108,378,190	V481I	probably benign	Het
Jak3	T	C	8: 71,682,316	I531T	probably damaging	Het
Kng1	T	A	16: 23,079,678	H609Q	probably benign	Het
Mdn1	T	A	4: 32,746,446	S4131T	probably damaging	Het
Npnt	A	G	3: 132,948,128	S31P	probably damaging	Het
Olfr1098	T	A	2: 86,922,748	K261N	probably damaging	Het
Olfr1186	A	T	2: 88,525,646	Q21L	possibly damaging	Het
Olfr398	A	T	11: 73,984,295	F104L	possibly damaging	Het
Paxx	A	T	2: 25,460,226	L123Q	probably damaging	Het
Prdm13	C	T	4: 21,683,528	R144Q	unknown	Het
Rab2b	C	A	14: 52,279,345		probably benign	Het
Rnf207	A	G	4: 152,311,780	I509T	probably damaging	Het
Ropn1l	T	C	15: 31,453,509	Q12R		Het
Ryr3	T	G	2: 112,875,028	Y847S	probably damaging	Het
Slc1a6	A	T	10: 78,812,812	T456S	possibly damaging	Het
Slc26a2	A	T	18: 61,198,829	M510K	possibly damaging	Het
Slc5a9	T	C	4: 111,883,839	T537A	probably benign	Het
Slc9b2	T	C	3: 135,326,178	Y132H	unknown	Het
Sltm	T	C	9: 70,584,850	L725S	probably damaging	Het
Spz1	A	G	13: 92,575,927	C14R	probably benign	Het
Srrm4	T	A	5: 116,471,242	Q172L	unknown	Het
Synj2bp	T	C	12: 81,504,515	D92G	probably benign	Het
Tmem169	A	C	1: 72,301,070	T220P	probably benign	Het
Ttn	T	A	2: 76,888,028	I7270F	unknown	Het
Txndc16	T	G	14: 45,183,154	N137H	probably benign	Het
Ubr5	A	G	15: 37,976,145	Y2499H		Het
Ugt2b38	T	C	5: 87,410,446	D452G	probably damaging	Het
Zfp12	T	A	5: 143,245,502	I560N	possibly damaging	Het
Zfp60	A	G	7: 27,749,512	K535R	possibly damaging	Het
Zfp960	T	A	17: 17,088,499	C492S	probably damaging	Het

Other mutations in Gm5580

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7292:Gm5580	UTSW	6	116551477	missense	probably damaging	0.98
R7331:Gm5580	UTSW	6	116552169	missense	probably benign	0.00
R7903:Gm5580	UTSW	6	116551251	missense	probably benign	0.00
R8103:Gm5580	UTSW	6	116551507	missense	probably damaging	1.00
R8153:Gm5580	UTSW	6	116552007	missense	probably damaging	0.97
R8331:Gm5580	UTSW	6	116552362	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGGTCTTTCAGCGGAATCAGG -3'
(R):5'- AGACCCTTCTGAATCTGCACC -3'

Sequencing Primer
(F):5'- CTTTCAGCGGAATCAGGATCATG -3'
(R):5'- ACCGCTAACTCTCTGGTTGGAG -3'

Posted On

2019-06-26