Mutagenetix > Incidental Mutation

Incidental Mutation 'R1200:4930562C15Rik'

101331

Institutional Source

Beutler Lab

Gene Symbol

4930562C15Rik

Ensembl Gene

ENSMUSG00000022518

Gene Name

RIKEN cDNA 4930562C15 gene

Synonyms

MMRRC Submission

039270-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R1200 (G1)

Quality Score

132

Status

Not validated

Chromosome

Chromosomal Location

4653280-4685550 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4667536 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 309 (F309S)

Ref Sequence

ENSEMBL: ENSMUSP00000097784 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000100211
AA Change: F309S

SMART Domains

Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518
AA Change: F309S

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

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.6%
20x: 87.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,822,426 (GRCm39)	Q1421H	probably damaging	Het
Acat1	T	A	9: 53,494,810 (GRCm39)	I361F	possibly damaging	Het
Akp3	T	A	1: 87,052,982 (GRCm39)	I57N	probably damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Axin2	C	A	11: 108,822,376 (GRCm39)	D309E	probably damaging	Het
Clstn3	G	T	6: 124,436,129 (GRCm39)	P207T	probably damaging	Het
Dip2b	C	A	15: 100,107,626 (GRCm39)	A1212E	probably benign	Het
Dnah5	A	G	15: 28,246,403 (GRCm39)	I580M	possibly damaging	Het
Dpp3	T	C	19: 4,973,157 (GRCm39)	T146A	probably benign	Het
Fam227a	A	G	15: 79,496,738 (GRCm39)	F613S	possibly damaging	Het
Fam83b	T	C	9: 76,399,594 (GRCm39)	D503G	probably damaging	Het
Flot2	C	T	11: 77,945,631 (GRCm39)	T2M	probably damaging	Het
Herc1	T	C	9: 66,393,406 (GRCm39)	L4095S	probably damaging	Het
Kcnh7	T	C	2: 62,607,739 (GRCm39)	Y614C	probably damaging	Het
Lcp1	T	A	14: 75,466,742 (GRCm39)	F616L	possibly damaging	Het
Myh15	T	A	16: 48,916,882 (GRCm39)	Y401N	probably damaging	Het
Neb	T	C	2: 52,057,657 (GRCm39)	Y6144C	probably damaging	Het
Nr1h5	A	G	3: 102,855,178 (GRCm39)	F308L	probably damaging	Het
Ntn5	G	T	7: 45,341,806 (GRCm39)	V309L	possibly damaging	Het
Or51aa2	T	A	7: 103,188,274 (GRCm39)	T56S	probably benign	Het
Or8k21	A	T	2: 86,145,477 (GRCm39)	L51Q	probably damaging	Het
Pex1	G	A	5: 3,656,411 (GRCm39)		probably null	Het
Pld1	A	T	3: 28,103,435 (GRCm39)	D380V	probably damaging	Het
Prdm1	A	G	10: 44,326,126 (GRCm39)	Y148H	probably damaging	Het
Ptchd3	T	C	11: 121,722,087 (GRCm39)		probably null	Het
Rnf17	C	T	14: 56,705,163 (GRCm39)	T689I	probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Twf1	A	T	15: 94,484,239 (GRCm39)	H94Q	probably benign	Het
Vmn2r13	T	G	5: 109,322,068 (GRCm39)	I210L	probably damaging	Het
Zbtb49	T	C	5: 38,370,675 (GRCm39)	E402G	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
R1738:4930562C15Rik	UTSW	16	4,682,475 (GRCm39)	missense	probably damaging	1.00
R1775:4930562C15Rik	UTSW	16	4,669,422 (GRCm39)	splice site	probably null
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'- TTCAGTCCGGTGAGCGGAAAAG -3'
(R):5'- AGGCCAATAGTTACCCCTAGCCAAG -3'

Sequencing Primer
(F):5'- AGAGCATGGTCTCTCTGCC -3'
(R):5'- TAGCCAAGCCTCTTGGTAAG -3'

Posted On

2014-01-15