Mutagenetix > Incidental Mutation

Incidental Mutation 'R6518:4921539E11Rik'

520857

Institutional Source

Beutler Lab

Gene Symbol

4921539E11Rik

Ensembl Gene

ENSMUSG00000028520

Gene Name

RIKEN cDNA 4921539E11 gene

Synonyms

MMRRC Submission

044645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R6518 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103230445-103290863 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103266411 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 88 (D88G)

Ref Sequence

ENSEMBL: ENSMUSP00000095557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030245] [ENSMUST00000097944] [ENSMUST00000168664]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030245
AA Change: D88G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030245
Gene: ENSMUSG00000028520
AA Change: D88G

Domain	Start	End	E-Value	Type
Pfam:DUF4545	1	443	6.1e-206	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000097944
AA Change: D88G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000095557
Gene: ENSMUSG00000028520
AA Change: D88G

Domain	Start	End	E-Value	Type
Pfam:DUF4545	1	270	7.3e-116	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168664

SMART Domains

Protein: ENSMUSP00000131846
Gene: ENSMUSG00000028520

Domain	Start	End	E-Value	Type
Pfam:DUF4545	1	342	4.4e-183	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.5%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 86,509,089			Het
Angptl6	T	C	9: 20,875,360	H330R	probably damaging	Het
Asxl3	T	A	18: 22,516,340	V462E	probably damaging	Het
Atp13a2	G	C	4: 141,000,854	R503P	possibly damaging	Het
C1ra	T	A	6: 124,521,575		probably null	Het
C2	T	A	17: 34,864,118	I426F	probably damaging	Het
C4b	A	T	17: 34,734,205	Y1049N	probably damaging	Het
Cdkn1b	T	A	6: 134,921,320	M134K	probably benign	Het
Cenpn	A	G	8: 116,937,165	D145G	possibly damaging	Het
Ckap2	A	T	8: 22,173,303	I492K	probably benign	Het
Cog2	G	A	8: 124,527,103	W67*	probably null	Het
Col7a1	T	C	9: 108,955,527	F172L	unknown	Het
Dcaf1	T	C	9: 106,835,589	I112T	probably damaging	Het
Ddx4	T	C	13: 112,604,547	I518V	probably benign	Het
Dnah10	T	C	5: 124,758,355	L908P	probably damaging	Het
Dsg3	T	C	18: 20,533,422	Y563H	probably benign	Het
Gm12394	A	G	4: 42,791,750	I794T	probably benign	Het
Gm16686	A	C	4: 88,755,488		probably benign	Het
Gpr139	A	T	7: 119,144,511	F284I	probably damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Ice1	A	T	13: 70,606,309	F553I	possibly damaging	Het
Igkv6-29	T	A	6: 70,138,513	Q99L	probably damaging	Het
Lipt1	A	G	1: 37,875,775	N304S	probably benign	Het
Lmo1	A	C	7: 109,143,576	L39R	probably damaging	Het
Mcc	T	A	18: 44,661,811		probably benign	Het
Mindy3	T	C	2: 12,382,129	T74A	probably damaging	Het
Olfr1507	T	C	14: 52,490,620	I115V	probably damaging	Het
Olfr71	A	G	4: 43,706,334	V78A	probably benign	Het
Olfr96	G	T	17: 37,225,268	A48S	probably benign	Het
Ormdl1	T	C	1: 53,308,957	Y153H	probably benign	Het
Pdzrn3	A	T	6: 101,150,514	*1064K	probably null	Het
Pias1	A	G	9: 62,951,860	L113P	probably damaging	Het
Piezo2	A	T	18: 63,106,271	I514N	probably damaging	Het
Prkd1	T	C	12: 50,425,495	T212A	probably benign	Het
Rnf219	A	T	14: 104,479,065	L624H	probably damaging	Het
Rsph10b	A	G	5: 143,963,873	Y151C	probably damaging	Het
Samhd1	G	A	2: 157,114,297	T325M	possibly damaging	Het
Seh1l	A	G	18: 67,789,449	T291A	probably damaging	Het
Smim24	A	G	10: 81,393,861	M1V	probably null	Het
Sp140	TTTTTTTTTTTT	TTTTTTTTTTTTTTTTT	1: 85,644,570		probably benign	Het
Speer3	T	G	5: 13,795,448	I165S	possibly damaging	Het
Timm23	A	G	14: 32,201,637		probably null	Het
Tmem17	A	T	11: 22,517,427	Y75F	possibly damaging	Het
Tmem86b	A	T	7: 4,629,609	C85*	probably null	Het
Try5	A	G	6: 41,314,679	F6S	probably benign	Het
Vmn2r71	G	T	7: 85,621,228	C534F	probably damaging	Het
Vmn2r85	A	T	10: 130,429,412	D67E	probably benign	Het
Wars2	A	T	3: 99,216,800	M326L	probably benign	Het
Wdr70	A	T	15: 8,079,337	S108R	unknown	Het
Zfp677	A	G	17: 21,398,130	H483R	probably damaging	Het

Other mutations in 4921539E11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:4921539E11Rik	APN	4	103235786	missense	possibly damaging	0.95
IGL00864:4921539E11Rik	APN	4	103235698	missense	probably damaging	1.00
IGL01951:4921539E11Rik	APN	4	103235668	missense	probably damaging	1.00
IGL02477:4921539E11Rik	APN	4	103270746	missense	probably benign	0.04
IGL02606:4921539E11Rik	APN	4	103242781	missense	probably benign	0.01
IGL03210:4921539E11Rik	APN	4	103284438	missense	probably benign	0.01
BB004:4921539E11Rik	UTSW	4	103266342	missense	probably benign	0.02
BB014:4921539E11Rik	UTSW	4	103266342	missense	probably benign	0.02
R0441:4921539E11Rik	UTSW	4	103235492	intron	probably benign
R0455:4921539E11Rik	UTSW	4	103230983	missense	possibly damaging	0.69
R0504:4921539E11Rik	UTSW	4	103270860	splice site	probably benign
R0636:4921539E11Rik	UTSW	4	103231217	missense	probably damaging	1.00
R0766:4921539E11Rik	UTSW	4	103270797	missense	probably damaging	0.99
R0799:4921539E11Rik	UTSW	4	103242904	missense	possibly damaging	0.83
R1312:4921539E11Rik	UTSW	4	103270797	missense	probably damaging	0.99
R1713:4921539E11Rik	UTSW	4	103270767	missense	possibly damaging	0.92
R1783:4921539E11Rik	UTSW	4	103231089	missense	probably damaging	0.99
R1978:4921539E11Rik	UTSW	4	103270764	missense	possibly damaging	0.49
R3735:4921539E11Rik	UTSW	4	103266406	missense	probably damaging	1.00
R4821:4921539E11Rik	UTSW	4	103235674	missense	probably damaging	1.00
R5274:4921539E11Rik	UTSW	4	103235659	missense	probably benign	0.22
R5275:4921539E11Rik	UTSW	4	103235659	missense	probably benign	0.22
R5431:4921539E11Rik	UTSW	4	103270848	missense	probably benign	0.00
R5449:4921539E11Rik	UTSW	4	103266382	missense	probably benign
R6049:4921539E11Rik	UTSW	4	103231323	missense	probably benign	0.05
R6277:4921539E11Rik	UTSW	4	103231471	nonsense	probably null
R6602:4921539E11Rik	UTSW	4	103255572	missense	probably benign	0.36
R6634:4921539E11Rik	UTSW	4	103236930	critical splice donor site	probably null
R6992:4921539E11Rik	UTSW	4	103242793	missense	possibly damaging	0.57
R7575:4921539E11Rik	UTSW	4	103230995	missense	probably damaging	1.00
R7927:4921539E11Rik	UTSW	4	103266342	missense	probably benign	0.02
R8130:4921539E11Rik	UTSW	4	103235698	missense	probably damaging	1.00
R8461:4921539E11Rik	UTSW	4	103255515	missense	probably benign	0.01
R8714:4921539E11Rik	UTSW	4	103242896	missense	probably benign	0.10
R8798:4921539E11Rik	UTSW	4	103266377	start gained	probably benign
R9458:4921539E11Rik	UTSW	4	103284411	missense	possibly damaging	0.81
R9462:4921539E11Rik	UTSW	4	103235767	missense	probably benign	0.08
R9598:4921539E11Rik	UTSW	4	103231407	missense	probably benign	0.03
R9643:4921539E11Rik	UTSW	4	103235469	missense	unknown
R9709:4921539E11Rik	UTSW	4	103235481	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGTTAAGATACCAGAAGGAGGG -3'
(R):5'- TTCCTACCCTGGCAGTACTACC -3'

Sequencing Primer
(F):5'- CACAGAGCATTACCCATTA -3'
(R):5'- AGCAACACTTCAGGCTTCTTCTCTAG -3'

Posted On

2018-06-06