Mutagenetix > Incidental Mutation

Incidental Mutation 'R5774:5730507C01Rik'

445576

Institutional Source

Beutler Lab

Gene Symbol

5730507C01Rik

Ensembl Gene

ENSMUSG00000073197

Gene Name

RIKEN cDNA 5730507C01 gene

Synonyms

MMRRC Submission

043373-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R5774 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

18564511-18585255 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 18581668 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 62 (L62M)

Ref Sequence

ENSEMBL: ENSMUSP00000099112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063216] [ENSMUST00000177778]

AlphaFold

J3QPX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000063216
AA Change: L62M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099112
Gene: ENSMUSG00000073197
AA Change: L62M

Domain	Start	End	E-Value	Type
low complexity region	20	31	N/A	INTRINSIC
KRAB	45	107	1.74e-14	SMART
ZnF_C2H2	144	166	5.54e1	SMART
ZnF_C2H2	172	194	8.75e0	SMART
ZnF_C2H2	200	222	2.43e-4	SMART
ZnF_C2H2	228	250	2.02e-1	SMART
ZnF_C2H2	256	278	1.4e-4	SMART
ZnF_C2H2	284	306	1.84e-4	SMART
ZnF_C2H2	312	334	6.88e-4	SMART
ZnF_C2H2	340	362	9.58e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177778
AA Change: L86M

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137525
Gene: ENSMUSG00000073197
AA Change: L86M

Domain	Start	End	E-Value	Type
low complexity region	20	31	N/A	INTRINSIC
KRAB	69	131	1.74e-14	SMART
ZnF_C2H2	168	190	5.54e1	SMART
ZnF_C2H2	196	218	8.75e0	SMART
ZnF_C2H2	224	246	2.43e-4	SMART
ZnF_C2H2	252	274	2.02e-1	SMART
ZnF_C2H2	280	302	1.4e-4	SMART
ZnF_C2H2	308	330	1.84e-4	SMART
ZnF_C2H2	336	358	6.88e-4	SMART
ZnF_C2H2	364	386	9.58e-3	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	G	A	6: 142,574,285 (GRCm39)	T949I	probably damaging	Het
Adam4	C	T	12: 81,467,460 (GRCm39)	S387N	probably damaging	Het
Akap11	T	C	14: 78,748,407 (GRCm39)	S1327G	probably damaging	Het
Arhgap1	A	G	2: 91,484,453 (GRCm39)	T12A	possibly damaging	Het
Arhgap28	A	G	17: 68,188,487 (GRCm39)	S228P	possibly damaging	Het
Atp6v1b2	A	T	8: 69,554,613 (GRCm39)	D106V	probably damaging	Het
Atp9b	T	G	18: 80,977,147 (GRCm39)	D3A	probably damaging	Het
Bptf	A	G	11: 107,001,963 (GRCm39)	F383S	probably damaging	Het
Cdh24	T	C	14: 54,876,514 (GRCm39)	T104A	probably damaging	Het
Cep55	A	G	19: 38,051,103 (GRCm39)	E171G	probably damaging	Het
Cntrl	T	A	2: 35,052,873 (GRCm39)	M1126K	probably benign	Het
Cts3	A	T	13: 61,716,184 (GRCm39)	I59N	probably damaging	Het
Ddx52	A	G	11: 83,836,960 (GRCm39)	I150M	probably damaging	Het
Dennd6a	T	C	14: 26,300,974 (GRCm39)	V62A	probably benign	Het
Dpep1	C	A	8: 123,926,721 (GRCm39)	D211E	probably damaging	Het
Gm1527	T	C	3: 28,972,239 (GRCm39)	V452A	probably benign	Het
Hmcn2	T	C	2: 31,299,147 (GRCm39)	V2831A	possibly damaging	Het
Hrob	T	A	11: 102,146,495 (GRCm39)	I257N	possibly damaging	Het
Hydin	G	T	8: 111,298,547 (GRCm39)	E3722*	probably null	Het
Il17a	A	G	1: 20,803,997 (GRCm39)	S131G	probably benign	Het
Ing3	C	T	6: 21,967,688 (GRCm39)	P119S	probably benign	Het
Larp4b	T	A	13: 9,220,679 (GRCm39)		probably null	Het
Lca5l	G	T	16: 95,977,261 (GRCm39)	Q177K	probably benign	Het
Lrrc61	C	T	6: 48,545,133 (GRCm39)		probably benign	Het
Man2a2	T	C	7: 80,018,106 (GRCm39)	Y188C	probably damaging	Het
Mdk	T	C	2: 91,761,569 (GRCm39)	E36G	probably damaging	Het
Mmp12	T	C	9: 7,354,823 (GRCm39)	I272T	possibly damaging	Het
Myh4	A	T	11: 67,144,034 (GRCm39)	K1135*	probably null	Het
Nup188	T	A	2: 30,191,060 (GRCm39)	Y96N	probably damaging	Het
Or8k33	A	T	2: 86,384,351 (GRCm39)	V39E	possibly damaging	Het
Pank4	G	A	4: 155,065,119 (GRCm39)	G806D	probably damaging	Het
Parp14	T	C	16: 35,678,780 (GRCm39)	Y396C	probably damaging	Het
Pcdhb8	T	A	18: 37,489,738 (GRCm39)	I472N	probably damaging	Het
Sema3a	T	A	5: 13,573,131 (GRCm39)	W220R	probably damaging	Het
Slc35g3	A	G	11: 69,651,124 (GRCm39)	V309A	probably damaging	Het
Slc6a6	A	G	6: 91,721,981 (GRCm39)	M394V	probably damaging	Het
Specc1l	G	A	10: 75,081,234 (GRCm39)	R210H	probably damaging	Het
Spocd1	T	A	4: 129,845,579 (GRCm39)	S480T	probably benign	Het
Sptbn5	T	A	2: 119,880,939 (GRCm39)		noncoding transcript	Het
Srrm2	A	G	17: 24,037,249 (GRCm39)		probably benign	Het
Stx16	G	A	2: 173,935,292 (GRCm39)	G156R	probably damaging	Het
Topbp1	A	G	9: 103,205,698 (GRCm39)	K779E	probably benign	Het
Trank1	T	A	9: 111,220,294 (GRCm39)	F2344I	probably damaging	Het
Ttll5	GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC	G	12: 85,980,329 (GRCm39)		probably null	Het
Ube4a	G	A	9: 44,864,395 (GRCm39)	P66L	probably damaging	Het
Utp6	A	T	11: 79,844,424 (GRCm39)	F200L	probably benign	Het
Vmn2r117	A	T	17: 23,696,176 (GRCm39)	H410Q	probably damaging	Het
Vps33b	C	T	7: 79,935,088 (GRCm39)	H344Y	probably benign	Het
Xpo5	C	T	17: 46,552,772 (GRCm39)	R1145*	probably null	Het
Zbed4	T	A	15: 88,665,852 (GRCm39)	F640Y	possibly damaging	Het
Zfp618	C	T	4: 63,050,799 (GRCm39)	R527C	probably damaging	Het

Other mutations in 5730507C01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01135:5730507C01Rik	APN	12	18,583,375 (GRCm39)	missense	possibly damaging	0.91
R0419:5730507C01Rik	UTSW	12	18,583,424 (GRCm39)	missense	possibly damaging	0.53
R1662:5730507C01Rik	UTSW	12	18,581,967 (GRCm39)	missense	possibly damaging	0.53
R1851:5730507C01Rik	UTSW	12	18,583,687 (GRCm39)	missense	possibly damaging	0.95
R1902:5730507C01Rik	UTSW	12	18,584,004 (GRCm39)	nonsense	probably null
R2876:5730507C01Rik	UTSW	12	18,583,644 (GRCm39)	missense	possibly damaging	0.60
R3861:5730507C01Rik	UTSW	12	18,583,411 (GRCm39)	missense	probably benign	0.33
R3934:5730507C01Rik	UTSW	12	18,584,082 (GRCm39)	missense	possibly damaging	0.95
R6259:5730507C01Rik	UTSW	12	18,584,120 (GRCm39)	missense	probably benign	0.44
R7647:5730507C01Rik	UTSW	12	18,564,803 (GRCm39)	missense	possibly damaging	0.86
R8053:5730507C01Rik	UTSW	12	18,583,728 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCTACATCTCCCTCTCAATTGGAATT -3'
(R):5'- GGTTTTCCCAAGTGTAGCCTAA -3'

Sequencing Primer
(F):5'- AACTTCTGTGTCAGGAAGTCAG -3'
(R):5'- ACTGGACACTATTCTGCTCAG -3'

Posted On

2016-11-21