Mutagenetix > Incidental Mutation

Incidental Mutation 'R1775:4930562C15Rik'

204369

Institutional Source

Beutler Lab

Gene Symbol

4930562C15Rik

Ensembl Gene

ENSMUSG00000022518

Gene Name

RIKEN cDNA 4930562C15 gene

Synonyms

MMRRC Submission

039806-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R1775 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4653280-4685550 bp(+) (GRCm39)

Type of Mutation

splice site (1 bp from exon)

DNA Base Change (assembly)

G to A at 4669422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100211] [ENSMUST00000100211] [ENSMUST00000175836] [ENSMUST00000177042]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000100211

SMART Domains

Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518

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 null
Transcript: ENSMUST00000100211

SMART Domains

Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518

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

noncoding transcript
Transcript: ENSMUST00000175836

SMART Domains

Protein: ENSMUSP00000135532
Gene: ENSMUSG00000022518

Domain	Start	End	E-Value	Type
internal_repeat_1	72	98	1.04e-6	PROSPERO
internal_repeat_1	97	124	1.04e-6	PROSPERO
low complexity region	143	160	N/A	INTRINSIC
low complexity region	185	207	N/A	INTRINSIC
low complexity region	235	252	N/A	INTRINSIC
internal_repeat_2	253	306	2.47e-5	PROSPERO
internal_repeat_2	297	351	2.47e-5	PROSPERO
low complexity region	356	387	N/A	INTRINSIC
low complexity region	399	410	N/A	INTRINSIC
low complexity region	413	430	N/A	INTRINSIC
low complexity region	435	455	N/A	INTRINSIC
coiled coil region	564	582	N/A	INTRINSIC
low complexity region	590	601	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177042

SMART Domains

Protein: ENSMUSP00000135160
Gene: ENSMUSG00000022518

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	2.39e-6	PROSPERO
internal_repeat_1	314	341	2.39e-6	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
internal_repeat_2	470	523	5.51e-5	PROSPERO
internal_repeat_2	514	568	5.51e-5	PROSPERO
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
coiled coil region	781	799	N/A	INTRINSIC
low complexity region	807	818	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000180566

Predicted Effect

probably null
Transcript: ENSMUST00000180566

Meta Mutation Damage Score

0.9477

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 92.9%

Validation Efficiency

98% (95/97)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J04Rik	A	G	12: 11,272,143 (GRCm39)	S20P	unknown	Het
4921528I07Rik	G	A	9: 114,108,386 (GRCm39)		noncoding transcript	Het
4933427I04Rik	A	G	4: 123,754,286 (GRCm39)	T67A	possibly damaging	Het
Abcc2	A	T	19: 43,786,858 (GRCm39)	N160Y	possibly damaging	Het
Acaca	A	G	11: 84,191,248 (GRCm39)	D155G	possibly damaging	Het
Afg3l1	G	A	8: 124,219,639 (GRCm39)	R389Q	possibly damaging	Het
Ank2	G	A	3: 126,728,196 (GRCm39)	T799M	probably benign	Het
Anxa2	T	C	9: 69,395,363 (GRCm39)	Y202H	possibly damaging	Het
Arhgef33	A	G	17: 80,681,172 (GRCm39)	T771A	probably benign	Het
Atp12a	T	C	14: 56,610,046 (GRCm39)	V182A	probably benign	Het
Birc6	T	C	17: 74,919,281 (GRCm39)	L210S	probably damaging	Het
Car3	A	G	3: 14,929,492 (GRCm39)	T73A	probably benign	Het
Cd5l	T	C	3: 87,275,966 (GRCm39)	L312P	probably damaging	Het
Celf5	A	G	10: 81,303,138 (GRCm39)		probably benign	Het
Cep290	T	A	10: 100,332,672 (GRCm39)	V257E	probably damaging	Het
Cntrob	T	C	11: 69,211,693 (GRCm39)	D177G	possibly damaging	Het
Copg2	A	T	6: 30,787,271 (GRCm39)	F658I	probably damaging	Het
Csmd3	T	C	15: 47,763,135 (GRCm39)	T1234A	probably damaging	Het
Dhx35	A	G	2: 158,648,357 (GRCm39)	T72A	probably damaging	Het
Dmrtc2	A	T	7: 24,573,792 (GRCm39)	H209L	possibly damaging	Het
Eml5	G	T	12: 98,818,963 (GRCm39)		probably null	Het
Evpl	T	C	11: 116,114,486 (GRCm39)	E1068G	possibly damaging	Het
Ezh2	A	G	6: 47,553,594 (GRCm39)	M41T	probably damaging	Het
Fmo3	A	G	1: 162,796,294 (GRCm39)	S93P	possibly damaging	Het
Gdi2	A	G	13: 3,610,018 (GRCm39)	Y213C	possibly damaging	Het
Gpr15	A	T	16: 58,538,921 (GRCm39)	I56K	probably benign	Het
Gria2	G	T	3: 80,598,645 (GRCm39)	S796R	probably benign	Het
Hectd4	T	A	5: 121,429,254 (GRCm39)		probably benign	Het
Hgfac	T	C	5: 35,200,194 (GRCm39)		probably benign	Het
Hspg2	C	T	4: 137,247,467 (GRCm39)	R1200W	probably damaging	Het
Ift52	G	A	2: 162,867,275 (GRCm39)	D78N	possibly damaging	Het
Iqca1	C	A	1: 90,009,138 (GRCm39)	W415L	probably damaging	Het
Ism1	A	T	2: 139,587,963 (GRCm39)	K236N	probably damaging	Het
Itgb6	C	T	2: 60,502,988 (GRCm39)	W43*	probably null	Het
Kcnk18	T	A	19: 59,223,773 (GRCm39)	I306N	probably damaging	Het
Kctd8	T	C	5: 69,497,903 (GRCm39)	K248E	probably damaging	Het
Layn	T	A	9: 50,970,833 (GRCm39)	I237F	probably benign	Het
Lce3f	C	T	3: 92,900,248 (GRCm39)	P23L	unknown	Het
Lct	A	G	1: 128,228,038 (GRCm39)	F1152L	probably damaging	Het
Mettl25b	A	G	3: 87,831,124 (GRCm39)	S404P	probably damaging	Het
Mxra8	T	C	4: 155,927,531 (GRCm39)	I413T	probably damaging	Het
Nedd9	A	G	13: 41,471,438 (GRCm39)	V187A	probably benign	Het
Net1	A	G	13: 3,937,642 (GRCm39)	L207P	probably damaging	Het
Neurod1	G	T	2: 79,284,781 (GRCm39)	P201T	probably benign	Het
Nlrp1b	A	G	11: 71,052,647 (GRCm39)	F927S	probably damaging	Het
Ntrk3	T	A	7: 78,005,789 (GRCm39)	H524L	possibly damaging	Het
Nup98	A	C	7: 101,784,144 (GRCm39)	S1063A	probably benign	Het
Or10ak11	T	A	4: 118,687,065 (GRCm39)	M191L	probably benign	Het
Or11h4b	G	T	14: 50,918,623 (GRCm39)	P156Q	possibly damaging	Het
Or56b1	G	A	7: 104,285,366 (GRCm39)	V162I	probably benign	Het
Or5b97	C	A	19: 12,878,599 (GRCm39)	V182F	probably benign	Het
Or5m9b	G	A	2: 85,905,104 (GRCm39)	V7I	possibly damaging	Het
Or6d15	T	C	6: 116,559,925 (GRCm39)		probably benign	Het
Pdzd2	G	A	15: 12,592,546 (GRCm39)	R33W	probably damaging	Het
Phf21a	G	A	2: 92,160,860 (GRCm39)	V243I	probably damaging	Het
Ppp1r12b	A	G	1: 134,821,086 (GRCm39)		probably null	Het
Rexo5	T	C	7: 119,444,634 (GRCm39)	V703A	probably benign	Het
Rgs4	A	G	1: 169,572,847 (GRCm39)	S30P	probably benign	Het
Rxra	C	A	2: 27,646,256 (GRCm39)	D340E	probably damaging	Het
Samhd1	A	G	2: 156,949,467 (GRCm39)	V473A	probably benign	Het
Scn3a	T	A	2: 65,302,686 (GRCm39)	K1253N	probably damaging	Het
Scn7a	T	C	2: 66,511,299 (GRCm39)	N1207S	probably benign	Het
Sec24d	T	A	3: 123,130,166 (GRCm39)	I443N	probably damaging	Het
Sema4g	T	A	19: 44,987,681 (GRCm39)		probably null	Het
Sema5b	A	G	16: 35,480,694 (GRCm39)	K787R	probably benign	Het
Serpinc1	A	G	1: 160,817,217 (GRCm39)	N104D	probably benign	Het
Sfn	T	C	4: 133,328,542 (GRCm39)	H180R	probably damaging	Het
Slc22a6	G	T	19: 8,596,471 (GRCm39)		probably null	Het
Slc9a8	T	C	2: 167,299,278 (GRCm39)	S217P	probably benign	Het
Smc6	A	G	12: 11,359,270 (GRCm39)	N965D	probably benign	Het
Sod2	T	A	17: 13,233,919 (GRCm39)	I177N	probably damaging	Het
Sp4	A	T	12: 118,263,335 (GRCm39)	I237K	probably damaging	Het
Sulf2	T	C	2: 165,921,532 (GRCm39)	K697R	probably benign	Het
Svs4	A	T	2: 164,119,005 (GRCm39)	D110E	unknown	Het
Tas1r1	T	A	4: 152,122,675 (GRCm39)	R57*	probably null	Het
Tlr5	T	C	1: 182,801,287 (GRCm39)	I197T	probably damaging	Het
Tmc3	T	C	7: 83,261,740 (GRCm39)	V606A	probably benign	Het
Tmem241	T	A	18: 12,251,469 (GRCm39)	L37F	probably damaging	Het
Tmem59l	A	T	8: 70,938,903 (GRCm39)	N90K	probably damaging	Het
Tram1	A	C	1: 13,646,680 (GRCm39)		probably benign	Het
Trim15	T	A	17: 37,176,061 (GRCm39)	H162L	probably benign	Het
Ttc28	T	A	5: 111,424,677 (GRCm39)	Y1501N	probably benign	Het
Ttc34	T	C	4: 154,946,671 (GRCm39)	V857A	probably benign	Het
Tulp4	A	G	17: 6,189,321 (GRCm39)	T48A	probably damaging	Het
Usp9y	T	C	Y: 1,368,089 (GRCm39)	E939G	probably damaging	Het
Utp20	A	G	10: 88,606,670 (GRCm39)	I1634T	probably benign	Het
Vmn2r72	T	C	7: 85,387,378 (GRCm39)	M729V	probably benign	Het
Vps13c	C	T	9: 67,788,729 (GRCm39)	T334M	probably damaging	Het
Wnk4	C	G	11: 101,167,166 (GRCm39)		probably benign	Het
Xpo1	A	G	11: 23,221,193 (GRCm39)	N97D	probably benign	Het
Xpo4	A	T	14: 57,841,129 (GRCm39)	F518Y	probably benign	Het
Zfp668	C	T	7: 127,465,778 (GRCm39)	V469I	possibly damaging	Het
Zfp85	C	A	13: 67,897,823 (GRCm39)	C83F	probably damaging	Het

Other mutations in 4930562C15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00936:4930562C15Rik	APN	16	4,682,510 (GRCm39)	missense	probably benign	0.31
IGL01610:4930562C15Rik	APN	16	4,669,429 (GRCm39)	splice site	probably benign
IGL02869:4930562C15Rik	APN	16	4,685,323 (GRCm39)	missense	possibly damaging	0.68
IGL03242:4930562C15Rik	APN	16	4,667,189 (GRCm39)	missense	unknown
R0063:4930562C15Rik	UTSW	16	4,678,912 (GRCm39)	nonsense	probably null
R0063:4930562C15Rik	UTSW	16	4,678,912 (GRCm39)	nonsense	probably null
R0083:4930562C15Rik	UTSW	16	4,667,406 (GRCm39)	missense	unknown
R0565:4930562C15Rik	UTSW	16	4,682,200 (GRCm39)	missense	probably benign	0.22
R0630:4930562C15Rik	UTSW	16	4,668,803 (GRCm39)	missense	possibly damaging	0.90
R0734:4930562C15Rik	UTSW	16	4,668,198 (GRCm39)	missense	probably benign	0.01
R1200:4930562C15Rik	UTSW	16	4,667,536 (GRCm39)	missense	unknown
R1738:4930562C15Rik	UTSW	16	4,682,475 (GRCm39)	missense	probably damaging	1.00
R1945:4930562C15Rik	UTSW	16	4,653,549 (GRCm39)	missense	unknown
R2132:4930562C15Rik	UTSW	16	4,653,835 (GRCm39)	missense	unknown
R2445:4930562C15Rik	UTSW	16	4,682,261 (GRCm39)	splice site	probably null
R2696:4930562C15Rik	UTSW	16	4,668,228 (GRCm39)	missense	probably benign	0.04
R4729:4930562C15Rik	UTSW	16	4,667,187 (GRCm39)	missense	unknown
R4779:4930562C15Rik	UTSW	16	4,667,613 (GRCm39)	missense	unknown
R4806:4930562C15Rik	UTSW	16	4,667,536 (GRCm39)	missense	unknown
R4808:4930562C15Rik	UTSW	16	4,667,536 (GRCm39)	missense	unknown
R4876:4930562C15Rik	UTSW	16	4,667,536 (GRCm39)	missense	unknown
R4931:4930562C15Rik	UTSW	16	4,678,910 (GRCm39)	missense	possibly damaging	0.47
R4956:4930562C15Rik	UTSW	16	4,672,816 (GRCm39)	missense	probably damaging	0.99
R5085:4930562C15Rik	UTSW	16	4,653,837 (GRCm39)	nonsense	probably null
R5203:4930562C15Rik	UTSW	16	4,653,462 (GRCm39)	missense	unknown
R5229:4930562C15Rik	UTSW	16	4,667,915 (GRCm39)	missense	possibly damaging	0.73
R5461:4930562C15Rik	UTSW	16	4,682,227 (GRCm39)	missense	probably damaging	1.00
R5462:4930562C15Rik	UTSW	16	4,682,227 (GRCm39)	missense	probably damaging	1.00
R5464:4930562C15Rik	UTSW	16	4,682,227 (GRCm39)	missense	probably damaging	1.00
R5595:4930562C15Rik	UTSW	16	4,682,143 (GRCm39)	missense	probably benign	0.01
R6054:4930562C15Rik	UTSW	16	4,653,729 (GRCm39)	missense	unknown
R6405:4930562C15Rik	UTSW	16	4,669,742 (GRCm39)	missense	probably damaging	0.97
R6859:4930562C15Rik	UTSW	16	4,669,799 (GRCm39)	missense	possibly damaging	0.86
R7124:4930562C15Rik	UTSW	16	4,682,196 (GRCm39)	missense	probably benign	0.02
R7139:4930562C15Rik	UTSW	16	4,668,048 (GRCm39)	missense	probably benign	0.00
R7182:4930562C15Rik	UTSW	16	4,667,578 (GRCm39)	missense	unknown
R7219:4930562C15Rik	UTSW	16	4,667,508 (GRCm39)	missense	unknown
R7366:4930562C15Rik	UTSW	16	4,653,633 (GRCm39)	missense	unknown
R7592:4930562C15Rik	UTSW	16	4,667,138 (GRCm39)	missense	unknown
R7759:4930562C15Rik	UTSW	16	4,682,514 (GRCm39)	missense	probably benign	0.01
R7789:4930562C15Rik	UTSW	16	4,682,175 (GRCm39)	missense	probably benign	0.01
R7873:4930562C15Rik	UTSW	16	4,684,091 (GRCm39)	missense	probably benign
R7916:4930562C15Rik	UTSW	16	4,682,454 (GRCm39)	nonsense	probably null
R8093:4930562C15Rik	UTSW	16	4,669,368 (GRCm39)	missense	possibly damaging	0.86
R8169:4930562C15Rik	UTSW	16	4,684,082 (GRCm39)	missense	probably benign	0.00
R8278:4930562C15Rik	UTSW	16	4,668,040 (GRCm39)	missense	probably benign	0.33
R8372:4930562C15Rik	UTSW	16	4,682,152 (GRCm39)	missense	probably damaging	0.99
R8493:4930562C15Rik	UTSW	16	4,653,453 (GRCm39)	start codon destroyed	unknown
R8549:4930562C15Rik	UTSW	16	4,681,061 (GRCm39)	critical splice donor site	probably null
R8947:4930562C15Rik	UTSW	16	4,665,292 (GRCm39)	missense	unknown
R9137:4930562C15Rik	UTSW	16	4,685,312 (GRCm39)	missense	probably benign
R9339:4930562C15Rik	UTSW	16	4,667,521 (GRCm39)	missense	unknown
R9422:4930562C15Rik	UTSW	16	4,667,153 (GRCm39)	missense
R9561:4930562C15Rik	UTSW	16	4,680,980 (GRCm39)	missense	possibly damaging	0.52
R9618:4930562C15Rik	UTSW	16	4,667,418 (GRCm39)	missense	unknown
R9747:4930562C15Rik	UTSW	16	4,668,711 (GRCm39)	missense	probably damaging	1.00
R9773:4930562C15Rik	UTSW	16	4,668,057 (GRCm39)	missense	possibly damaging	0.86
X0028:4930562C15Rik	UTSW	16	4,685,231 (GRCm39)	missense	possibly damaging	0.83
Z1176:4930562C15Rik	UTSW	16	4,684,112 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- CTCCCTTTGGGACATGGCATAAAC -3'
(R):5'- ATACCAGGCCTGTGTACACC -3'

Sequencing Primer
(F):5'- TGGCATAAACATGGGAGCTCTCTC -3'
(R):5'- GTGTACACCAGTCTGACATCTGACAG -3'

Posted On

2014-06-23