Mutagenetix > Incidental Mutation

Incidental Mutation 'R5472:Gm973'

433843

Institutional Source

Beutler Lab

Gene Symbol

Gm973

Ensembl Gene

ENSMUSG00000047361

Gene Name

predicted gene 973

Synonyms

LOC381260

MMRRC Submission

043033-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R5472 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59516264-59636417 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 59628287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114243]

AlphaFold

E9Q295

Predicted Effect

probably null
Transcript: ENSMUST00000114243

SMART Domains

Protein: ENSMUSP00000109881
Gene: ENSMUSG00000047361

Domain	Start	End	E-Value	Type
low complexity region	364	375	N/A	INTRINSIC
Pfam:DUF4670	583	1045	7.3e-160	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187454

Predicted Effect

probably benign
Transcript: ENSMUST00000190490

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191158

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.3%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	T	C	14: 78,513,429	N506S	probably benign	Het
BC067074	A	G	13: 113,319,169	D583G	probably benign	Het
Brinp3	A	T	1: 146,901,459	H548L	possibly damaging	Het
Cacna1c	A	G	6: 118,638,446	V1328A	possibly damaging	Het
Carmil1	C	T	13: 24,155,471	V47I	probably damaging	Het
Cdk2ap2	C	A	19: 4,098,048	T76K	probably benign	Het
Col16a1	T	C	4: 130,092,771		probably benign	Het
Cxcr4	C	A	1: 128,589,625	A100S	probably damaging	Het
Fancl	G	T	11: 26,469,677	C305F	probably damaging	Het
Gcnt2	T	C	13: 40,953,579	V308A	probably benign	Het
Gm11733	A	T	11: 117,484,496	I24L	unknown	Het
Gm765	A	T	6: 98,238,276	C129S	probably damaging	Het
Gm996	T	C	2: 25,579,702	T66A	probably benign	Het
Heatr5b	A	T	17: 78,801,660	F1057I	probably damaging	Het
Ifi213	A	T	1: 173,567,272		probably null	Het
Ighv1-20	A	T	12: 114,723,851	V91E	probably damaging	Het
Inhba	A	G	13: 16,026,786	E311G	probably damaging	Het
Irx3	G	T	8: 91,799,480		probably null	Het
Jag1	C	A	2: 137,084,995	C948F	probably damaging	Het
Kcna2	T	C	3: 107,105,309	I402T	possibly damaging	Het
Kcnh8	A	T	17: 52,977,816	Q938L	possibly damaging	Het
Lrsam1	ACC	AC	2: 32,945,858		probably null	Het
Macf1	T	C	4: 123,450,061	T2123A	probably benign	Het
Mdh1	A	T	11: 21,559,786	N196K	probably benign	Het
Msh6	G	A	17: 87,984,561	R248Q	possibly damaging	Het
Odf2l	G	T	3: 145,146,866	R457L	probably benign	Het
Olfr822	A	T	10: 130,075,029	L206F	probably damaging	Het
Pphln1	T	C	15: 93,488,975	V318A	possibly damaging	Het
Ppp1r12a	C	T	10: 108,240,112	T267I	probably damaging	Het
Pramef20	T	C	4: 144,377,157	D133G	probably benign	Het
Prpf8	A	C	11: 75,503,643	K1801N	possibly damaging	Het
Raf1	A	G	6: 115,626,706		probably null	Het
Rasal3	C	A	17: 32,396,669	L374F	probably damaging	Het
S1pr3	T	A	13: 51,419,647	V288D	probably damaging	Het
Setd7	G	A	3: 51,521,465	P315S	probably benign	Het
Slx4	C	T	16: 3,991,540	A364T	probably benign	Het
Sp7	G	A	15: 102,359,314	T19I	probably benign	Het
Tlr9	T	A	9: 106,224,313	C268S	probably damaging	Het
Tmem117	T	A	15: 95,094,513	D351E	possibly damaging	Het
Tmem45b	T	A	9: 31,428,044	D211V	possibly damaging	Het
Tns3	A	G	11: 8,451,092	S1069P	probably benign	Het
Tsnax	A	G	8: 125,015,762	I77V	probably benign	Het
Txndc5	G	A	13: 38,513,125	L79F	possibly damaging	Het
Ube2q1	A	G	3: 89,777,241	E14G	probably benign	Het
Vmn2r28	C	T	7: 5,487,944		probably null	Het
Vwde	A	T	6: 13,193,118	D407E	probably benign	Het
Wdr35	T	A	12: 9,016,619	M749K	probably benign	Het
Zfp109	A	T	7: 24,228,621	C462*	probably null	Het

Other mutations in Gm973

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Gm973	APN	1	59630279	missense	probably benign	0.00
IGL01732:Gm973	APN	1	59630237	missense	probably benign	0.24
IGL02124:Gm973	APN	1	59582473	nonsense	probably null
IGL02251:Gm973	APN	1	59582423	missense	probably benign	0.18
IGL02818:Gm973	APN	1	59541475	critical splice donor site	probably null
IGL03385:Gm973	APN	1	59582470	missense	probably benign	0.14
R0105:Gm973	UTSW	1	59582474	missense	probably null	0.60
R0105:Gm973	UTSW	1	59582474	missense	probably null	0.60
R0280:Gm973	UTSW	1	59544680	frame shift	probably null
R0490:Gm973	UTSW	1	59558234	splice site	probably benign
R0491:Gm973	UTSW	1	59558234	splice site	probably benign
R0508:Gm973	UTSW	1	59582490	splice site	probably benign
R0636:Gm973	UTSW	1	59551144	missense	probably benign	0.13
R0709:Gm973	UTSW	1	59558234	splice site	probably benign
R0900:Gm973	UTSW	1	59566668	missense	probably benign	0.00
R1758:Gm973	UTSW	1	59634010	missense	unknown
R1816:Gm973	UTSW	1	59582399	missense	probably damaging	0.99
R1975:Gm973	UTSW	1	59562771	missense	possibly damaging	0.50
R2166:Gm973	UTSW	1	59526739	missense	possibly damaging	0.61
R3052:Gm973	UTSW	1	59633140	splice site	probably benign
R3899:Gm973	UTSW	1	59625140	missense	probably benign	0.00
R4181:Gm973	UTSW	1	59551240	missense	possibly damaging	0.93
R4302:Gm973	UTSW	1	59551240	missense	possibly damaging	0.93
R4623:Gm973	UTSW	1	59556276	missense	probably damaging	1.00
R4642:Gm973	UTSW	1	59558114	missense	probably damaging	1.00
R4716:Gm973	UTSW	1	59552554	nonsense	probably null
R4920:Gm973	UTSW	1	59627566	missense	probably benign
R4951:Gm973	UTSW	1	59541474	critical splice donor site	probably null
R5214:Gm973	UTSW	1	59526721	missense	probably damaging	1.00
R5225:Gm973	UTSW	1	59562700	missense	probably benign	0.01
R5554:Gm973	UTSW	1	59526972	missense	probably benign	0.09
R5709:Gm973	UTSW	1	59552555	missense	possibly damaging	0.73
R5886:Gm973	UTSW	1	59558250	intron	probably benign
R6044:Gm973	UTSW	1	59628234	missense	probably benign
R6046:Gm973	UTSW	1	59632350	missense	unknown
R6818:Gm973	UTSW	1	59630169	missense	probably damaging	0.99
R6920:Gm973	UTSW	1	59552461	missense	possibly damaging	0.76
R6999:Gm973	UTSW	1	59634092	missense	unknown
R7214:Gm973	UTSW	1	59562729	nonsense	probably null
R7418:Gm973	UTSW	1	59526813	missense	probably damaging	1.00
R7780:Gm973	UTSW	1	59558130	missense	probably damaging	1.00
R8834:Gm973	UTSW	1	59524661	missense
R9083:Gm973	UTSW	1	59636158	missense
R9206:Gm973	UTSW	1	59552426	missense	possibly damaging	0.86
R9297:Gm973	UTSW	1	59544670	missense	probably damaging	1.00
R9519:Gm973	UTSW	1	59541452	missense	probably benign	0.29
R9701:Gm973	UTSW	1	59526873	missense	possibly damaging	0.61
Z1176:Gm973	UTSW	1	59524602	start gained	probably benign
Z1177:Gm973	UTSW	1	59541330	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CAGGCCACAAAGGGTTTTCC -3'
(R):5'- TTAGGAAATTCAGCTGCAGAGC -3'

Sequencing Primer
(F):5'- ACTCTTTTCTCCTCTGAAATCATTC -3'
(R):5'- TGCAGAGCGAGCATAGCC -3'

Posted On

2016-10-06