Mutagenetix > Incidental Mutation

Incidental Mutation 'R7503:5730559C18Rik'

581595

Institutional Source

Beutler Lab

Gene Symbol

5730559C18Rik

Ensembl Gene

ENSMUSG00000041605

Gene Name

RIKEN cDNA 5730559C18 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7503 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136213531-136234264 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136215937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 587 (D587G)

Ref Sequence

ENSEMBL: ENSMUSP00000113785 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120339] [ENSMUST00000144464] [ENSMUST00000150163] [ENSMUST00000168561] [ENSMUST00000212798]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120339
AA Change: D587G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113785
Gene: ENSMUSG00000041605
AA Change: D587G

Domain	Start	End	E-Value	Type
low complexity region	25	65	N/A	INTRINSIC
Pfam:DUF3338	101	230	6.2e-57	PFAM
low complexity region	273	316	N/A	INTRINSIC
low complexity region	353	362	N/A	INTRINSIC
low complexity region	466	489	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144464

SMART Domains

Protein: ENSMUSP00000115554
Gene: ENSMUSG00000041605

Domain	Start	End	E-Value	Type
Pfam:DUF3338	1	132	5.7e-58	PFAM
low complexity region	174	194	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150163

SMART Domains

Protein: ENSMUSP00000118074
Gene: ENSMUSG00000041605

Domain	Start	End	E-Value	Type
Pfam:DUF3338	1	132	6.8e-58	PFAM
low complexity region	174	194	N/A	INTRINSIC
low complexity region	197	213	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168561

SMART Domains

Protein: ENSMUSP00000130772
Gene: ENSMUSG00000087230

Domain	Start	End	E-Value	Type
SCOP:d1gw5a_	126	669	2e-7	SMART
low complexity region	677	684	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168561

Predicted Effect

probably benign
Transcript: ENSMUST00000212798

Meta Mutation Damage Score

0.1870

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	G	A	8: 12,279,554	G3D	unknown	Het
Aif1	A	T	17: 35,171,573	I67N	probably damaging	Het
Akap11	T	C	14: 78,512,001	D982G		Het
Anpep	A	G	7: 79,826,637	L827P	probably damaging	Het
Arhgef5	A	T	6: 43,273,999	K561N	probably benign	Het
Arsj	T	C	3: 126,364,844	F24S	probably benign	Het
Bard1	T	C	1: 71,030,836	D661G	probably damaging	Het
Cc2d2b	A	G	19: 40,794,612	I618V	unknown	Het
Cfap54	T	A	10: 92,887,436		probably null	Het
Cfhr2	T	A	1: 139,831,214	I33F	probably damaging	Het
Dsc1	G	A	18: 20,085,865	H827Y	probably damaging	Het
Eif3i	C	T	4: 129,600,414	D31N	probably damaging	Het
Eno1b	A	T	18: 48,046,811	T19S	probably damaging	Het
Eva1a	G	A	6: 82,071,229	W29*	probably null	Het
Evc	T	C	5: 37,300,767	K803R	unknown	Het
F5	T	A	1: 164,192,210	N751K	probably damaging	Het
Fam120a	A	T	13: 48,949,247	N177K	probably benign	Het
Farp2	T	G	1: 93,567,497	I164R	probably benign	Het
Gm20379	C	T	13: 92,306,057	P26L		Het
Gm4778	A	T	3: 94,266,473	M259L	probably benign	Het
Hmgcs2	T	C	3: 98,302,624	S433P	probably damaging	Het
Ints2	T	C	11: 86,232,055	T633A	probably benign	Het
Invs	C	T	4: 48,396,347	T340M	probably damaging	Het
Mef2c	A	C	13: 83,662,504	D391A	possibly damaging	Het
Msh4	A	C	3: 153,867,750	S756A	probably damaging	Het
Mylk3	T	C	8: 85,353,589	T490A	probably benign	Het
Myo1b	A	T	1: 51,776,602		probably null	Het
Nsmce1	A	G	7: 125,471,934	S107P	probably benign	Het
Olfr1173	T	C	2: 88,274,695	Y118C	probably damaging	Het
Olfr628	T	A	7: 103,732,267	S114T	probably damaging	Het
Pcdhb21	G	A	18: 37,514,975	D386N	probably benign	Het
Pcdhb22	T	G	18: 37,519,102	L208V	probably benign	Het
Pigu	C	T	2: 155,331,144		probably null	Het
Plcz1	T	A	6: 139,990,748	E585V	probably damaging	Het
Pnpla7	C	A	2: 24,983,532	C183*	probably null	Het
Pomgnt1	T	C	4: 116,152,752	V133A	possibly damaging	Het
Prl3d3	A	G	13: 27,161,113	Y156C	probably benign	Het
Prpf39	A	G	12: 65,053,393	D280G	probably benign	Het
Recql5	C	A	11: 115,895,055	A631S	probably benign	Het
Runx3	C	A	4: 135,155,368	N138K	probably damaging	Het
Scaper	T	C	9: 55,807,754	D750G	probably damaging	Het
Slc16a3	T	C	11: 120,957,027	L347P	probably damaging	Het
Slc25a1	G	T	16: 17,926,439	Y209*	probably null	Het
Smad2	A	G	18: 76,286,885	S88G	probably benign	Het
Sorcs1	A	G	19: 50,153,052	C1125R	probably benign	Het
Spata21	T	A	4: 141,095,303	I140N	probably benign	Het
Speer3	A	T	5: 13,793,334	D85V	probably benign	Het
Stra6	A	G	9: 58,151,245	N463S	possibly damaging	Het
Tmem14a	T	G	1: 21,229,399		probably null	Het
Tsc1	T	A	2: 28,687,076	L1130Q	possibly damaging	Het
Ttn	T	C	2: 76,781,057	D17377G	possibly damaging	Het
Utf1	A	G	7: 139,944,133	D87G	probably damaging	Het
Vmn2r6	G	A	3: 64,539,951	Q565*	probably null	Het
Vmn2r63	A	T	7: 42,933,590	M67K	probably benign	Het
Vmn2r90	T	C	17: 17,713,248	Y357H	not run	Het
Vmn2r97	A	G	17: 18,928,208	T122A	probably benign	Het
Wdhd1	T	C	14: 47,250,791	E753G	probably benign	Het
Wdr11	A	G	7: 129,603,110	N213S	probably benign	Het
Wdr66	G	T	5: 123,297,458	E994*	probably null	Het
Xdh	A	C	17: 73,926,210	D207E	probably damaging	Het
Zfp281	T	A	1: 136,626,940	I552N	possibly damaging	Het
Zzef1	T	A	11: 72,826,067	I361K	probably damaging	Het

Other mutations in 5730559C18Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:5730559C18Rik	APN	1	136219775	missense	probably damaging	1.00
IGL02466:5730559C18Rik	APN	1	136216435	splice site	probably null
IGL03408:5730559C18Rik	APN	1	136214405	missense	probably benign
R0053:5730559C18Rik	UTSW	1	136227550	missense	probably benign	0.01
R0053:5730559C18Rik	UTSW	1	136227550	missense	probably benign	0.01
R0632:5730559C18Rik	UTSW	1	136227618	missense	probably benign	0.06
R1218:5730559C18Rik	UTSW	1	136214402	missense	probably damaging	1.00
R1611:5730559C18Rik	UTSW	1	136216117	missense	probably damaging	1.00
R3618:5730559C18Rik	UTSW	1	136214372	missense	probably benign	0.11
R4256:5730559C18Rik	UTSW	1	136214350	missense	probably benign	0.00
R4348:5730559C18Rik	UTSW	1	136226208	missense	probably damaging	1.00
R4350:5730559C18Rik	UTSW	1	136226208	missense	probably damaging	1.00
R4353:5730559C18Rik	UTSW	1	136226208	missense	probably damaging	1.00
R5343:5730559C18Rik	UTSW	1	136225442	missense	probably benign	0.01
R6296:5730559C18Rik	UTSW	1	136221071	critical splice donor site	probably null
R6597:5730559C18Rik	UTSW	1	136226189	missense	probably damaging	1.00
R6983:5730559C18Rik	UTSW	1	136220156	missense	possibly damaging	0.59
R7060:5730559C18Rik	UTSW	1	136220197	missense	possibly damaging	0.75
R7527:5730559C18Rik	UTSW	1	136214384	missense	possibly damaging	0.67
R7602:5730559C18Rik	UTSW	1	136225397	nonsense	probably null
R7675:5730559C18Rik	UTSW	1	136216003	missense	probably benign	0.04
R7756:5730559C18Rik	UTSW	1	136216433	missense	probably benign	0.01
R7912:5730559C18Rik	UTSW	1	136227541	missense	probably benign	0.03
R8261:5730559C18Rik	UTSW	1	136225477	missense	probably damaging	1.00
R9402:5730559C18Rik	UTSW	1	136227610	missense	probably benign
X0017:5730559C18Rik	UTSW	1	136220182	missense	probably damaging	1.00
Z1176:5730559C18Rik	UTSW	1	136219783	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- ATTACTCGGCCAGTAGTTGC -3'
(R):5'- TACCCGCTGGATACTTCCCAAC -3'

Sequencing Primer
(F):5'- ACGGGAAGCTGTACCTGTGTC -3'
(R):5'- CAACGGGGCGCTATGTGATG -3'

Posted On

2019-10-17