Mutagenetix > Incidental Mutations

Incidental Mutation 'R6654:Gm5431'

526565

Institutional Source

Beutler Lab

Gene Symbol

Gm5431

Ensembl Gene

ENSMUSG00000058163

Gene Name

predicted gene 5431

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6654 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48887422-48902214 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48894600 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 316 (D316G)

Ref Sequence

ENSEMBL: ENSMUSP00000104835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109209] [ENSMUST00000109210] [ENSMUST00000109212]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109209
AA Change: D38G

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104832
Gene: ENSMUSG00000058163
AA Change: D38G

Domain	Start	End	E-Value	Type
Pfam:IIGP	1	120	1.6e-22	PFAM
low complexity region	153	166	N/A	INTRINSIC
Pfam:IIGP	169	542	9.4e-154	PFAM
Pfam:MMR_HSR1	205	359	1.5e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109210
AA Change: D38G

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104833
Gene: ENSMUSG00000058163
AA Change: D38G

Domain	Start	End	E-Value	Type
Pfam:IIGP	1	120	1.6e-22	PFAM
low complexity region	153	166	N/A	INTRINSIC
Pfam:IIGP	169	542	9.4e-154	PFAM
Pfam:MMR_HSR1	205	359	1.5e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109212
AA Change: D316G

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104835
Gene: ENSMUSG00000058163
AA Change: D316G

Domain	Start	End	E-Value	Type
Pfam:IIGP	36	398	2.5e-125	PFAM
Pfam:DLIC	54	107	3.4e-5	PFAM
Pfam:MMR_HSR1	72	235	1.7e-11	PFAM
low complexity region	431	444	N/A	INTRINSIC
Pfam:IIGP	447	820	6.3e-153	PFAM
Pfam:MMR_HSR1	483	606	2.4e-7	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	T	A	2: 111,171,884	M154L	unknown	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Armc6	T	C	8: 70,231,375	E9G	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,664,857		probably null	Het
Ddc	A	T	11: 11,880,452	I64N	probably damaging	Het
Exd1	T	A	2: 119,524,717		probably null	Het
Gm13757	T	G	2: 88,446,672	T89P	possibly damaging	Het
Gm15922	A	T	7: 3,735,929	S560T	probably benign	Het
Gm4847	C	A	1: 166,630,387	G466C	probably damaging	Het
Gsta4	T	C	9: 78,209,099	F197L	probably damaging	Het
Irs2	A	G	8: 11,006,486	Y649H	probably damaging	Het
Kif16b	T	C	2: 142,701,277		probably benign	Het
Krtap12-1	T	C	10: 77,720,703		probably benign	Het
Ktn1	G	A	14: 47,690,000	S537N	probably damaging	Het
Med12l	G	T	3: 59,262,292	G1626W	probably damaging	Het
Mfng	T	A	15: 78,759,339	T223S	probably damaging	Het
Msh3	T	C	13: 92,345,042	T321A	probably benign	Het
Myo7b	T	C	18: 31,990,269	I672V	possibly damaging	Het
Nbas	C	T	12: 13,483,874	Q1837*	probably null	Het
Nlrc4	G	A	17: 74,445,528	A620V	possibly damaging	Het
Nubpl	T	A	12: 52,310,733	V310E	probably damaging	Het
Olfr1109	A	G	2: 87,093,050	S116P	probably benign	Het
P2ry12	A	G	3: 59,218,020	L78P	probably damaging	Het
Pkd1l3	T	G	8: 109,624,283	S587A	probably benign	Het
Prkacb	A	G	3: 146,750,543	V145A	possibly damaging	Het
Rpgrip1l	T	C	8: 91,220,205	E1256G	probably benign	Het
Rsph4a	A	G	10: 33,912,992	Q611R	probably benign	Het
Sorl1	T	C	9: 41,980,645	D1903G	possibly damaging	Het
Tmem39b	A	T	4: 129,686,826	V291D	probably damaging	Het
Unc79	A	C	12: 103,079,048	K685Q	probably damaging	Het
Unc79	A	T	12: 103,079,049	K685I	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r112	G	T	17: 22,603,469	S376I	possibly damaging	Het
Zfp850	A	T	7: 27,985,215	C35*	probably null	Het
Zfp974	A	G	7: 27,926,403	V14A	probably damaging	Het

Other mutations in Gm5431

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Gm5431	APN	11	48895414	missense	probably benign	0.09
IGL00964:Gm5431	APN	11	48889267	missense	probably damaging	0.99
IGL01571:Gm5431	APN	11	48894713	missense	probably benign	0.00
IGL02006:Gm5431	APN	11	48888503	missense	probably damaging	1.00
IGL02084:Gm5431	APN	11	48889085	missense	probably benign	0.41
IGL02255:Gm5431	APN	11	48888958	missense	possibly damaging	0.93
IGL02291:Gm5431	APN	11	48888964	missense	probably damaging	1.00
IGL03194:Gm5431	APN	11	48895537	intron	probably benign
IGL03251:Gm5431	APN	11	48894721	missense	probably benign	0.00
R1168:Gm5431	UTSW	11	48895364	missense	probably benign	0.36
R1387:Gm5431	UTSW	11	48895015	missense	possibly damaging	0.92
R1396:Gm5431	UTSW	11	48895434	intron	probably benign
R1711:Gm5431	UTSW	11	48895026	missense	possibly damaging	0.73
R1750:Gm5431	UTSW	11	48894831	missense	probably benign	0.01
R1927:Gm5431	UTSW	11	48889255	missense	probably damaging	1.00
R1957:Gm5431	UTSW	11	48888397	nonsense	probably null
R2196:Gm5431	UTSW	11	48889231	missense	probably damaging	1.00
R2509:Gm5431	UTSW	11	48888709	missense	probably benign	0.16
R2511:Gm5431	UTSW	11	48888709	missense	probably benign	0.16
R4018:Gm5431	UTSW	11	48889168	missense	probably damaging	1.00
R4859:Gm5431	UTSW	11	48889582	missense	probably damaging	1.00
R4895:Gm5431	UTSW	11	48889028	missense	probably damaging	0.98
R5124:Gm5431	UTSW	11	48889039	missense	probably benign	0.31
R5311:Gm5431	UTSW	11	48888889	missense	probably damaging	1.00
R5600:Gm5431	UTSW	11	48894756	missense	possibly damaging	0.56
R5728:Gm5431	UTSW	11	48888613	missense	probably damaging	1.00
R5731:Gm5431	UTSW	11	48894448	missense	probably damaging	0.96
R6120:Gm5431	UTSW	11	48894781	missense	probably benign	0.36
R6129:Gm5431	UTSW	11	48889591	missense	probably damaging	1.00
R6169:Gm5431	UTSW	11	48888575	missense	probably benign	0.29
R6192:Gm5431	UTSW	11	48894393	missense	probably benign	0.01
R6253:Gm5431	UTSW	11	48894999	missense	probably benign	0.00
R6326:Gm5431	UTSW	11	48889345	missense	probably damaging	1.00
R6401:Gm5431	UTSW	11	48888709	missense	probably benign	0.16
R6810:Gm5431	UTSW	11	48888976	missense	probably damaging	1.00
R6965:Gm5431	UTSW	11	48895200	missense	probably benign	0.19
R6970:Gm5431	UTSW	11	48888490	missense	probably damaging	1.00
R7269:Gm5431	UTSW	11	48888410	missense	probably benign
R7770:Gm5431	UTSW	11	48888458	missense	probably benign	0.02
R8260:Gm5431	UTSW	11	48894729	missense	probably benign	0.01
R8385:Gm5431	UTSW	11	48889520	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATTTTAACATCGCTTGCAACCG -3'
(R):5'- ATGTTCATGCTCACGTTGCC -3'

Sequencing Primer
(F):5'- GCTTGCAACCGTGTCAATG -3'
(R):5'- GCCTATTGTTACAGATTCCACCATAG -3'

Posted On

2018-07-23