Mutagenetix > Incidental Mutation

Incidental Mutation 'R4859:Gm5431'

372341

Institutional Source

Beutler Lab

Gene Symbol

Gm5431

Ensembl Gene

ENSMUSG00000058163

Gene Name

predicted gene 5431

Synonyms

MMRRC Submission

042470-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4859 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48778249-48792979 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48780409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 449 (E449G)

Ref Sequence

ENSEMBL: ENSMUSP00000104835 (fasta)

Gene Model

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

AlphaFold

Q5NCB3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109209
AA Change: E171G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104832
Gene: ENSMUSG00000058163
AA Change: E171G

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: E171G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000104833
Gene: ENSMUSG00000058163
AA Change: E171G

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

probably damaging
Transcript: ENSMUST00000109212
AA Change: E449G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104835
Gene: ENSMUSG00000058163
AA Change: E449G

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.5%

Validation Efficiency

100% (112/112)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 41,207,580 (GRCm39)	V282E	probably benign	Het
Adam26b	T	C	8: 43,973,296 (GRCm39)	T569A	possibly damaging	Het
Adam6a	A	G	12: 113,509,609 (GRCm39)	N661D	probably damaging	Het
Adck1	G	A	12: 88,407,865 (GRCm39)	A199T	probably benign	Het
Adhfe1	A	G	1: 9,628,438 (GRCm39)	Y270C	probably damaging	Het
Aldh16a1	C	T	7: 44,796,731 (GRCm39)	R256H	probably benign	Het
Ap5z1	T	C	5: 142,459,748 (GRCm39)	M466T	possibly damaging	Het
Aspm	C	T	1: 139,397,131 (GRCm39)	L908F	probably damaging	Het
Atp8b2	T	A	3: 89,853,287 (GRCm39)	T743S	probably benign	Het
Bag2	G	T	1: 33,786,022 (GRCm39)	T100K	probably damaging	Het
Camk2a	A	G	18: 61,076,246 (GRCm39)		probably benign	Het
Ccdc158	A	G	5: 92,781,262 (GRCm39)	Y848H	probably damaging	Het
Ccp110	T	G	7: 118,324,653 (GRCm39)	V725G	possibly damaging	Het
Cdh6	A	G	15: 13,051,418 (GRCm39)	V405A	probably benign	Het
Ces2g	T	C	8: 105,694,094 (GRCm39)		probably null	Het
Cfap157	A	G	2: 32,667,554 (GRCm39)	F510L	probably benign	Het
Chd3	A	T	11: 69,250,722 (GRCm39)	M669K	possibly damaging	Het
Cnot10	C	T	9: 114,456,532 (GRCm39)	A168T	probably damaging	Het
Crybg1	A	G	10: 43,868,565 (GRCm39)	V1371A	probably damaging	Het
Dars2	A	G	1: 160,872,560 (GRCm39)	L547P	probably damaging	Het
Dis3	A	G	14: 99,325,226 (GRCm39)	C483R	probably damaging	Het
Dnah7b	T	A	1: 46,395,762 (GRCm39)	L3888Q	probably damaging	Het
Dpysl2	A	T	14: 67,066,888 (GRCm39)	Y182N	probably damaging	Het
Eif4g1	T	A	16: 20,500,923 (GRCm39)	F509L	probably benign	Het
Evc	T	C	5: 37,458,253 (GRCm39)	T85A	probably damaging	Het
Farsb	T	C	1: 78,444,609 (GRCm39)	T283A	probably benign	Het
Fem1al	G	T	11: 29,775,178 (GRCm39)	A93E	probably damaging	Het
Fgf14	C	A	14: 124,429,845 (GRCm39)	R30L	possibly damaging	Het
Gbe1	T	C	16: 70,275,289 (GRCm39)	L363P	probably damaging	Het
Gcg	A	G	2: 62,307,189 (GRCm39)	V124A	probably damaging	Het
Glb1l	A	G	1: 75,176,963 (GRCm39)		probably benign	Het
Gon4l	T	C	3: 88,802,655 (GRCm39)	S1089P	probably benign	Het
Hgd	T	C	16: 37,409,111 (GRCm39)	L25P	probably damaging	Het
Hnf1a	T	C	5: 115,093,311 (GRCm39)	H318R	possibly damaging	Het
Hsd17b7	A	C	1: 169,794,826 (GRCm39)	V71G	possibly damaging	Het
Hydin	T	C	8: 111,233,126 (GRCm39)	S1742P	possibly damaging	Het
Insyn2b	A	G	11: 34,353,154 (GRCm39)	S399G	probably benign	Het
Kank2	T	C	9: 21,691,078 (GRCm39)	E552G	probably benign	Het
Kcnq4	C	A	4: 120,573,810 (GRCm39)	R217L	probably damaging	Het
Klrg2	T	C	6: 38,604,540 (GRCm39)	*201W	probably null	Het
Kndc1	T	C	7: 139,501,821 (GRCm39)	S953P	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lonp1	A	G	17: 56,933,587 (GRCm39)	V96A	probably benign	Het
Mgat4e	T	C	1: 134,469,478 (GRCm39)	K189E	possibly damaging	Het
Msantd5f8	A	G	4: 73,805,457 (GRCm39)	S351P	probably damaging	Het
Msh2	G	A	17: 88,026,187 (GRCm39)	V722I	possibly damaging	Het
Mtcl3	A	C	10: 29,026,390 (GRCm39)	M491L	probably benign	Het
N4bp2	T	C	5: 65,982,641 (GRCm39)	Y1632H	probably damaging	Het
Nlrc4	T	G	17: 74,743,032 (GRCm39)	K862T	probably damaging	Het
Notch4	A	T	17: 34,806,154 (GRCm39)	Q1750L	probably damaging	Het
Obscn	C	T	11: 58,972,849 (GRCm39)	V2066I	possibly damaging	Het
Or2v2	T	C	11: 49,003,993 (GRCm39)	K187E	probably damaging	Het
Or4c15	T	A	2: 88,760,627 (GRCm39)	I11L	probably benign	Het
Or4f14b	A	T	2: 111,775,156 (GRCm39)	I215N	probably damaging	Het
Or52d13	A	T	7: 103,110,243 (GRCm39)	Y57*	probably null	Het
Or5m8	T	C	2: 85,823,075 (GRCm39)	S305P	probably damaging	Het
Pde7a	T	A	3: 19,295,655 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,575,892 (GRCm39)	Y249*	probably null	Het
Ppp1r17	A	T	6: 56,003,449 (GRCm39)	E87D	probably damaging	Het
Prss3	T	A	6: 41,350,857 (GRCm39)	Q211L	probably damaging	Het
Rapgef6	A	G	11: 54,526,989 (GRCm39)	E413G	probably benign	Het
Rnf150	A	G	8: 83,590,712 (GRCm39)	H25R	probably damaging	Het
Scamp2	T	C	9: 57,488,934 (GRCm39)		probably null	Het
Scap	T	A	9: 110,203,410 (GRCm39)		probably benign	Het
Sdc2	A	C	15: 33,032,602 (GRCm39)	K175N	probably damaging	Het
Serpinb6d	T	A	13: 33,851,547 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,146,164 (GRCm39)	N1181S	probably benign	Het
Slc44a2	T	C	9: 21,259,441 (GRCm39)	I46T	probably damaging	Het
Slfn8	A	G	11: 82,908,540 (GRCm39)	M1T	probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
Tbck	T	G	3: 132,507,288 (GRCm39)	S753R	probably benign	Het
Tdp1	A	G	12: 99,876,070 (GRCm39)	I340M	probably benign	Het
Tmprss6	T	A	15: 78,330,877 (GRCm39)	Y50F	probably damaging	Het
Trank1	T	A	9: 111,194,078 (GRCm39)	S701T	probably benign	Het
Trbv17	A	T	6: 41,140,223 (GRCm39)	N26I	probably benign	Het
Trip12	A	T	1: 84,771,531 (GRCm39)	S248T	probably damaging	Het
Vmn2r53	T	G	7: 12,335,330 (GRCm39)	Q110P	probably damaging	Het
Vmn2r75	A	G	7: 85,797,611 (GRCm39)	V734A	probably benign	Het
Wfdc11	A	T	2: 164,507,415 (GRCm39)	M14K	probably null	Het
Xcr1	T	A	9: 123,685,712 (GRCm39)	M17L	probably benign	Het
Zbtb40	A	G	4: 136,716,070 (GRCm39)	I965T	probably damaging	Het
Zfp760	A	T	17: 21,942,511 (GRCm39)	H562L	probably damaging	Het
Zfp760	A	T	17: 21,942,516 (GRCm39)	R564*	probably null	Het
Znf41-ps	T	A	4: 145,555,283 (GRCm39)		noncoding transcript	Het
Zyg11a	A	T	4: 108,067,387 (GRCm39)	I41N	probably damaging	Het

Other mutations in Gm5431

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00479:Gm5431	APN	11	48,786,241 (GRCm39)	missense	probably benign	0.09
IGL00964:Gm5431	APN	11	48,780,094 (GRCm39)	missense	probably damaging	0.99
IGL01571:Gm5431	APN	11	48,785,540 (GRCm39)	missense	probably benign	0.00
IGL02006:Gm5431	APN	11	48,779,330 (GRCm39)	missense	probably damaging	1.00
IGL02084:Gm5431	APN	11	48,779,912 (GRCm39)	missense	probably benign	0.41
IGL02255:Gm5431	APN	11	48,779,785 (GRCm39)	missense	possibly damaging	0.93
IGL02291:Gm5431	APN	11	48,779,791 (GRCm39)	missense	probably damaging	1.00
IGL03194:Gm5431	APN	11	48,786,364 (GRCm39)	intron	probably benign
IGL03251:Gm5431	APN	11	48,785,548 (GRCm39)	missense	probably benign	0.00
R1168:Gm5431	UTSW	11	48,786,191 (GRCm39)	missense	probably benign	0.36
R1387:Gm5431	UTSW	11	48,785,842 (GRCm39)	missense	possibly damaging	0.92
R1396:Gm5431	UTSW	11	48,786,261 (GRCm39)	intron	probably benign
R1711:Gm5431	UTSW	11	48,785,853 (GRCm39)	missense	possibly damaging	0.73
R1750:Gm5431	UTSW	11	48,785,658 (GRCm39)	missense	probably benign	0.01
R1927:Gm5431	UTSW	11	48,780,082 (GRCm39)	missense	probably damaging	1.00
R1957:Gm5431	UTSW	11	48,779,224 (GRCm39)	nonsense	probably null
R2196:Gm5431	UTSW	11	48,780,058 (GRCm39)	missense	probably damaging	1.00
R2509:Gm5431	UTSW	11	48,779,536 (GRCm39)	missense	probably benign	0.16
R2511:Gm5431	UTSW	11	48,779,536 (GRCm39)	missense	probably benign	0.16
R4018:Gm5431	UTSW	11	48,779,995 (GRCm39)	missense	probably damaging	1.00
R4895:Gm5431	UTSW	11	48,779,855 (GRCm39)	missense	probably damaging	0.98
R5124:Gm5431	UTSW	11	48,779,866 (GRCm39)	missense	probably benign	0.31
R5311:Gm5431	UTSW	11	48,779,716 (GRCm39)	missense	probably damaging	1.00
R5600:Gm5431	UTSW	11	48,785,583 (GRCm39)	missense	possibly damaging	0.56
R5728:Gm5431	UTSW	11	48,779,440 (GRCm39)	missense	probably damaging	1.00
R5731:Gm5431	UTSW	11	48,785,275 (GRCm39)	missense	probably damaging	0.96
R6120:Gm5431	UTSW	11	48,785,608 (GRCm39)	missense	probably benign	0.36
R6129:Gm5431	UTSW	11	48,780,418 (GRCm39)	missense	probably damaging	1.00
R6169:Gm5431	UTSW	11	48,779,402 (GRCm39)	missense	probably benign	0.29
R6192:Gm5431	UTSW	11	48,785,220 (GRCm39)	missense	probably benign	0.01
R6253:Gm5431	UTSW	11	48,785,826 (GRCm39)	missense	probably benign	0.00
R6326:Gm5431	UTSW	11	48,780,172 (GRCm39)	missense	probably damaging	1.00
R6401:Gm5431	UTSW	11	48,779,536 (GRCm39)	missense	probably benign	0.16
R6654:Gm5431	UTSW	11	48,785,427 (GRCm39)	missense	possibly damaging	0.91
R6810:Gm5431	UTSW	11	48,779,803 (GRCm39)	missense	probably damaging	1.00
R6965:Gm5431	UTSW	11	48,786,027 (GRCm39)	missense	probably benign	0.19
R6970:Gm5431	UTSW	11	48,779,317 (GRCm39)	missense	probably damaging	1.00
R7269:Gm5431	UTSW	11	48,779,237 (GRCm39)	missense	probably benign
R7770:Gm5431	UTSW	11	48,779,285 (GRCm39)	missense	probably benign	0.02
R8260:Gm5431	UTSW	11	48,785,556 (GRCm39)	missense	probably benign	0.01
R8385:Gm5431	UTSW	11	48,780,347 (GRCm39)	missense	probably damaging	1.00
R9058:Gm5431	UTSW	11	48,786,049 (GRCm39)	missense	probably benign	0.09
R9127:Gm5431	UTSW	11	48,779,600 (GRCm39)	nonsense	probably null
R9138:Gm5431	UTSW	11	48,780,498 (GRCm39)	missense	probably benign	0.05
R9355:Gm5431	UTSW	11	48,785,275 (GRCm39)	missense	probably damaging	0.96
R9655:Gm5431	UTSW	11	48,785,799 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTACTCCCCTCAAGGCATTG -3'
(R):5'- ATGGTATCAGCAGCTGAGC -3'

Sequencing Primer
(F):5'- CCCTCAAGGCATTGATGAAGCTG -3'
(R):5'- GCCCTGTGCACTAATAATTACAGTG -3'

Posted On

2016-03-01