Mutagenetix > Incidental Mutation

Incidental Mutation 'R7789:4930562C15Rik'

599764

Institutional Source

Beutler Lab

Gene Symbol

4930562C15Rik

Ensembl Gene

ENSMUSG00000022518

Gene Name

RIKEN cDNA 4930562C15 gene

Synonyms

MMRRC Submission

045845-MU

Accession Numbers

Ncbi RefSeq: NM_030192.1; MGI:1926059

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4835416-4867686 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4864311 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 163 (E163K)

Ref Sequence

ENSEMBL: ENSMUSP00000127814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100211] [ENSMUST00000171105] [ENSMUST00000176394] [ENSMUST00000176982]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000100211
AA Change: E1002K

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518
AA Change: E1002K

Domain	Start	End	E-Value	Type
coiled coil region	74	101	N/A	INTRINSIC
coiled coil region	181	211	N/A	INTRINSIC
internal_repeat_1	289	315	2.54e-5	PROSPERO
internal_repeat_1	314	341	2.54e-5	PROSPERO
low complexity region	360	377	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	452	469	N/A	INTRINSIC
low complexity region	573	604	N/A	INTRINSIC
low complexity region	616	627	N/A	INTRINSIC
low complexity region	630	647	N/A	INTRINSIC
low complexity region	652	672	N/A	INTRINSIC
Pfam:DUF4795	745	960	1.7e-46	PFAM
low complexity region	1095	1109	N/A	INTRINSIC
low complexity region	1111	1125	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171105
AA Change: E163K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000127814
Gene: ENSMUSG00000022518
AA Change: E163K

Domain	Start	End	E-Value	Type
Pfam:DUF4795	37	125	1.1e-20	PFAM
low complexity region	256	270	N/A	INTRINSIC
low complexity region	272	286	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176394

Predicted Effect

probably benign
Transcript: ENSMUST00000176982

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	A	8: 43,652,451	R52S	probably benign	Het
Adcy8	A	T	15: 64,871,774	C328*	probably null	Het
Ankrd26	G	T	6: 118,527,799	S716R	possibly damaging	Het
Ankrd26	G	T	6: 118,527,798	H717N	probably damaging	Het
Ankrd40	C	A	11: 94,334,709	P189T	probably damaging	Het
Anln	A	G	9: 22,352,037	S113P		Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Asxl1	C	T	2: 153,400,023	T832I	probably benign	Het
Bicd2	C	T	13: 49,379,659	R574C	probably damaging	Het
Boll	T	C	1: 55,360,667		probably null	Het
Casr	A	G	16: 36,495,291	F806L	probably damaging	Het
Casz1	C	A	4: 148,929,406	N142K	probably benign	Het
Cbl	C	T	9: 44,163,467	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,814,171	V62D	probably damaging	Het
Chst10	T	C	1: 38,884,451	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,545,716	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,494,910	V102L	probably benign	Het
Dnajb3	A	T	1: 88,205,677	M1K	probably null	Het
Dnajc6	A	T	4: 101,618,532	K534M	possibly damaging	Het
Dnase2a	T	C	8: 84,908,876		probably null	Het
Dock10	A	G	1: 80,559,213	I985T	possibly damaging	Het
Emsy	G	T	7: 98,621,489	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,654,083		probably null	Het
Erc1	T	A	6: 119,773,709	R353*	probably null	Het
Fam196b	T	A	11: 34,402,537	M193K	probably benign	Het
Fbn2	T	A	18: 58,039,313	D2140V	probably benign	Het
Fgfr1	T	A	8: 25,562,313	Y218*	probably null	Het
Fhod1	C	T	8: 105,330,108	R1045H	probably damaging	Het
Focad	G	T	4: 88,229,406	L427F	unknown	Het
Gbf1	T	A	19: 46,254,002	L144M	probably damaging	Het
Glmn	T	G	5: 107,549,075	N592T	probably benign	Het
Golgb1	C	G	16: 36,875,399	P87A	unknown	Het
H2bfm	G	A	X: 136,927,722	R120K	unknown	Het
Itga9	T	G	9: 118,658,496	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,439,008	D149G	unknown	Het
Lcat	C	T	8: 105,942,225	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,607,200	N280K	probably damaging	Het
Mettl8	T	C	2: 70,966,462	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,490,279	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,265	V345A	possibly damaging	Het
Mok	T	A	12: 110,811,827	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,315,587	E221Q	probably damaging	Het
Muc4	C	G	16: 32,753,930	Q1269E	probably benign	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Myom1	A	G	17: 71,117,436	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,490,456	S143L	probably benign	Het
Olfr366	C	T	2: 37,219,660	T57I	probably benign	Het
Olfr531	A	T	7: 140,400,697	Y116*	probably null	Het
Olfr646	T	A	7: 104,106,988	S236R	probably damaging	Het
Olfr847	G	T	9: 19,375,065	T272K	probably benign	Het
Plbd2	T	C	5: 120,485,754	S568G	probably damaging	Het
Plxna4	T	A	6: 32,206,233		probably null	Het
Plxnc1	T	A	10: 94,794,477	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,434,379	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,095,539	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,774,335	D849G	probably damaging	Het
Rnf213	T	C	11: 119,470,219		probably null	Het
Sema3f	T	A	9: 107,705,432	K37N	probably benign	Het
Sh3glb1	G	T	3: 144,692,131		probably null	Het
Sh3rf3	A	G	10: 59,086,815	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,377,725	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,475,301		probably benign	Het
Snrnp70	A	T	7: 45,376,621	Y441*	probably null	Het
Ssrp1	C	T	2: 85,041,181	R316W	probably damaging	Het
Syt10	A	T	15: 89,826,898	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,488,692	L562P		Het
Trim68	T	C	7: 102,684,469	D2G	possibly damaging	Het
Trub2	T	A	2: 29,777,908	H240L	probably damaging	Het
Tssc4	A	G	7: 143,069,778		probably null	Het
Usp7	T	A	16: 8,698,811	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,452,965	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,393,817	V600F	possibly damaging	Het
Vps13d	C	T	4: 145,100,065	V2879M		Het
Vrtn	T	A	12: 84,650,306	M610K	probably benign	Het
Xpo4	T	C	14: 57,613,349	E366G	probably benign	Het
Zyg11a	G	A	4: 108,183,648	P703S	probably damaging	Het

Other mutations in 4930562C15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00936:4930562C15Rik	APN	16	4864646	missense	probably benign	0.31
IGL01610:4930562C15Rik	APN	16	4851565	splice site	probably benign
IGL02869:4930562C15Rik	APN	16	4867459	missense	possibly damaging	0.68
IGL03242:4930562C15Rik	APN	16	4849325	missense	unknown
R0063:4930562C15Rik	UTSW	16	4861048	nonsense	probably null
R0063:4930562C15Rik	UTSW	16	4861048	nonsense	probably null
R0083:4930562C15Rik	UTSW	16	4849542	missense	unknown
R0565:4930562C15Rik	UTSW	16	4864336	missense	probably benign	0.22
R0630:4930562C15Rik	UTSW	16	4850939	missense	possibly damaging	0.90
R0734:4930562C15Rik	UTSW	16	4850334	missense	probably benign	0.01
R1200:4930562C15Rik	UTSW	16	4849672	missense	unknown
R1738:4930562C15Rik	UTSW	16	4864611	missense	probably damaging	1.00
R1775:4930562C15Rik	UTSW	16	4851558	splice site	probably null
R1945:4930562C15Rik	UTSW	16	4835685	missense	unknown
R2132:4930562C15Rik	UTSW	16	4835971	missense	unknown
R2445:4930562C15Rik	UTSW	16	4864397	splice site	probably null
R2696:4930562C15Rik	UTSW	16	4850364	missense	probably benign	0.04
R4729:4930562C15Rik	UTSW	16	4849323	missense	unknown
R4779:4930562C15Rik	UTSW	16	4849749	missense	unknown
R4806:4930562C15Rik	UTSW	16	4849672	missense	unknown
R4808:4930562C15Rik	UTSW	16	4849672	missense	unknown
R4876:4930562C15Rik	UTSW	16	4849672	missense	unknown
R4931:4930562C15Rik	UTSW	16	4861046	missense	possibly damaging	0.47
R4956:4930562C15Rik	UTSW	16	4854952	missense	probably damaging	0.99
R5085:4930562C15Rik	UTSW	16	4835973	nonsense	probably null
R5203:4930562C15Rik	UTSW	16	4835598	missense	unknown
R5229:4930562C15Rik	UTSW	16	4850051	missense	possibly damaging	0.73
R5461:4930562C15Rik	UTSW	16	4864363	missense	probably damaging	1.00
R5462:4930562C15Rik	UTSW	16	4864363	missense	probably damaging	1.00
R5464:4930562C15Rik	UTSW	16	4864363	missense	probably damaging	1.00
R5595:4930562C15Rik	UTSW	16	4864279	missense	probably benign	0.01
R6054:4930562C15Rik	UTSW	16	4835865	missense	unknown
R6405:4930562C15Rik	UTSW	16	4851878	missense	probably damaging	0.97
R6859:4930562C15Rik	UTSW	16	4851935	missense	possibly damaging	0.86
R7124:4930562C15Rik	UTSW	16	4864332	missense	probably benign	0.02
R7139:4930562C15Rik	UTSW	16	4850184	missense	probably benign	0.00
R7182:4930562C15Rik	UTSW	16	4849714	missense	unknown
R7219:4930562C15Rik	UTSW	16	4849644	missense	unknown
R7366:4930562C15Rik	UTSW	16	4835769	missense	unknown
R7592:4930562C15Rik	UTSW	16	4849274	missense	unknown
R7759:4930562C15Rik	UTSW	16	4864650	missense	probably benign	0.01
R7873:4930562C15Rik	UTSW	16	4866227	missense	probably benign
R7916:4930562C15Rik	UTSW	16	4864590	nonsense	probably null
R8093:4930562C15Rik	UTSW	16	4851504	missense	possibly damaging	0.86
R8169:4930562C15Rik	UTSW	16	4866218	missense	probably benign	0.00
R8278:4930562C15Rik	UTSW	16	4850176	missense	probably benign	0.33
R8372:4930562C15Rik	UTSW	16	4864288	missense	probably damaging	0.99
R8493:4930562C15Rik	UTSW	16	4835589	start codon destroyed	unknown
R8549:4930562C15Rik	UTSW	16	4863197	critical splice donor site	probably null
R8947:4930562C15Rik	UTSW	16	4847428	missense	unknown
R9137:4930562C15Rik	UTSW	16	4867448	missense	probably benign
R9339:4930562C15Rik	UTSW	16	4849657	missense	unknown
R9422:4930562C15Rik	UTSW	16	4849289	missense
R9561:4930562C15Rik	UTSW	16	4863116	missense	possibly damaging	0.52
R9618:4930562C15Rik	UTSW	16	4849554	missense	unknown
R9747:4930562C15Rik	UTSW	16	4850847	missense	probably damaging	1.00
R9773:4930562C15Rik	UTSW	16	4850193	missense	possibly damaging	0.86
X0028:4930562C15Rik	UTSW	16	4867367	missense	possibly damaging	0.83
Z1176:4930562C15Rik	UTSW	16	4866248	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- TACTATCCAGAGCCCTGTGCAG -3'
(R):5'- ATCAGGGTCTCCATTGCCATC -3'

Sequencing Primer
(F):5'- CAGGTCTCCTCGGTGGTAGAG -3'
(R):5'- TTCCTTGATGCACACAAATGC -3'

Posted On

2019-11-26