Mutagenetix > Incidental Mutation

Incidental Mutation 'R2876:5730507C01Rik'

260568

Institutional Source

Beutler Lab

Gene Symbol

5730507C01Rik

Ensembl Gene

ENSMUSG00000073197

Gene Name

RIKEN cDNA 5730507C01 gene

Synonyms

MMRRC Submission

040464-MU

Accession Numbers

Essential gene?

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

Stock #

R2876 (G1)

Quality Score

122

Status

Validated

Chromosome

Chromosomal Location

18564511-18585255 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 18583644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 235 (Q235K)

Ref Sequence

ENSEMBL: ENSMUSP00000137525 (fasta)

Gene Model

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

AlphaFold

J3QPX0

Predicted Effect

probably benign
Transcript: ENSMUST00000063216
AA Change: Q211K

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099112
Gene: ENSMUSG00000073197
AA Change: Q211K

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: Q235K

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137525
Gene: ENSMUSG00000073197
AA Change: Q235K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	A	T	16: 14,275,824 (GRCm39)	H906L	probably benign	Het
Acot6	T	G	12: 84,148,036 (GRCm39)	D97E	possibly damaging	Het
Acvr2a	T	A	2: 48,782,190 (GRCm39)	M241K	probably damaging	Het
Adamts9	T	C	6: 92,772,891 (GRCm39)		probably benign	Het
Adgb	T	G	10: 10,298,463 (GRCm39)	T422P	probably damaging	Het
Adrm1	A	G	2: 179,817,411 (GRCm39)	T293A	probably damaging	Het
Ankfn1	A	G	11: 89,282,462 (GRCm39)	V395A	possibly damaging	Het
Atp2b1	A	G	10: 98,835,607 (GRCm39)	M451V	probably damaging	Het
Ccdc152	T	C	15: 3,327,663 (GRCm39)	N38S	probably damaging	Het
Cdh23	A	T	10: 60,143,275 (GRCm39)	N3017K	probably damaging	Het
Cenpf	A	G	1: 189,390,841 (GRCm39)	M997T	probably benign	Het
Gcc2	A	G	10: 58,126,124 (GRCm39)	E1344G	probably damaging	Het
Gen1	A	C	12: 11,292,069 (GRCm39)	S573R	probably benign	Het
Ilvbl	C	A	10: 78,418,890 (GRCm39)	Q410K	probably benign	Het
Ints11	C	A	4: 155,971,882 (GRCm39)		probably benign	Het
Itfg1	T	C	8: 86,507,139 (GRCm39)		probably benign	Het
Lrrc27	C	T	7: 138,808,600 (GRCm39)		probably benign	Het
Maml3	G	A	3: 51,597,480 (GRCm39)	A422V	possibly damaging	Het
Masp2	T	A	4: 148,692,458 (GRCm39)	I317K	probably benign	Het
Or13n4	A	T	7: 106,423,664 (GRCm39)	V23E	probably benign	Het
Or2ag18	C	G	7: 106,405,204 (GRCm39)	S155T	probably benign	Het
Or5g26	A	G	2: 85,494,034 (GRCm39)	V248A	probably damaging	Het
Papln	T	A	12: 83,825,701 (GRCm39)	S661T	probably damaging	Het
Pi4ka	A	G	16: 17,185,414 (GRCm39)	S229P	possibly damaging	Het
Piezo2	A	G	18: 63,186,106 (GRCm39)	S1688P	probably damaging	Het
Pzp	T	C	6: 128,468,513 (GRCm39)	T1005A	probably damaging	Het
Rad1	T	C	15: 10,490,417 (GRCm39)	V128A	probably benign	Het
Rhbdd1	A	G	1: 82,346,090 (GRCm39)	D215G	probably benign	Het
Rnft2	G	A	5: 118,331,686 (GRCm39)	R417C	probably damaging	Het
Scn2a	A	C	2: 65,546,241 (GRCm39)	I935L	possibly damaging	Het
Sdc4	T	C	2: 164,273,211 (GRCm39)	D33G	possibly damaging	Het
Slco1c1	T	C	6: 141,505,582 (GRCm39)	S454P	probably damaging	Het
Spidr	A	T	16: 15,730,453 (GRCm39)		probably null	Het
Srp72	T	A	5: 77,143,767 (GRCm39)		probably benign	Het
Ttll4	A	G	1: 74,725,597 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,750,684 (GRCm39)	S3455N	probably damaging	Het
Vcan	T	A	13: 89,852,356 (GRCm39)	E868V	probably damaging	Het
Vmn2r89	G	T	14: 51,692,541 (GRCm39)	G115C	possibly damaging	Het
Zbed6	C	T	1: 133,584,598 (GRCm39)	C913Y	probably damaging	Het
Zscan29	T	C	2: 120,994,581 (GRCm39)	Y468C	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
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
R5774:5730507C01Rik	UTSW	12	18,581,668 (GRCm39)	missense	probably damaging	1.00
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'- GTGCCAATTTTCATTGCAGGTATG -3'
(R):5'- TGGGTTGTGAAAAGGCTTTACC -3'

Sequencing Primer
(F):5'- ATGTTGTAAAGCCTTTCCAACACC -3'
(R):5'- GGTTGTGAAAAGGCTTTACCACATTG -3'

Posted On

2015-01-23