Mutagenetix > Incidental Mutation

Incidental Mutation 'R7825:1700013G24Rik'

602121

Institutional Source

Beutler Lab

Gene Symbol

1700013G24Rik

Ensembl Gene

ENSMUSG00000041399

Gene Name

RIKEN cDNA 1700013G24 gene

Synonyms

MMRRC Submission

045879-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R7825 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137180607-137182772 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 137182654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 270 (R270C)

Ref Sequence

ENSEMBL: ENSMUSP00000043461 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048893]

AlphaFold

Q9DAC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000048893
AA Change: R270C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043461
Gene: ENSMUSG00000041399
AA Change: R270C

Domain	Start	End	E-Value	Type
low complexity region	44	65	N/A	INTRINSIC
low complexity region	181	203	N/A	INTRINSIC
SCOP:d1i50b_	216	261	3e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	C	A	4: 126,215,489 (GRCm39)		probably benign	Het
Akp3	TCACCACCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCACCACCAC	1: 87,055,489 (GRCm39)		probably benign	Het
Ambra1	A	G	2: 91,598,106 (GRCm39)	H89R	probably damaging	Het
Atp1a1	T	C	3: 101,493,485 (GRCm39)	N540D	probably benign	Het
Cd38	A	T	5: 44,058,797 (GRCm39)	H137L	probably damaging	Het
Clasp1	T	C	1: 118,473,123 (GRCm39)	V3A	probably benign	Het
Cmya5	G	T	13: 93,234,136 (GRCm39)	H317Q	possibly damaging	Het
Cpeb2	A	T	5: 43,394,882 (GRCm39)	D95V	probably damaging	Het
Cyp2f2	G	A	7: 26,828,678 (GRCm39)	V183I	probably benign	Het
Dcst1	A	G	3: 89,260,128 (GRCm39)	L572P	possibly damaging	Het
Eif3e	A	C	15: 43,129,667 (GRCm39)		probably null	Het
Ephb4	T	C	5: 137,370,699 (GRCm39)	S911P	probably damaging	Het
Fam186b	T	C	15: 99,181,728 (GRCm39)	T157A	not run	Het
Gnmt	T	C	17: 47,040,019 (GRCm39)	D20G	probably damaging	Het
Gpatch8	A	C	11: 102,372,268 (GRCm39)	D423E	unknown	Het
Gtf3c2	T	C	5: 31,315,715 (GRCm39)	H790R	probably damaging	Het
Hepacam	T	C	9: 37,296,064 (GRCm39)	I405T	probably benign	Het
Hspg2	T	A	4: 137,286,160 (GRCm39)	V3574E	probably damaging	Het
Ifi202b	A	C	1: 173,802,616 (GRCm39)	F73V	probably damaging	Het
Kcnb1	A	T	2: 166,947,892 (GRCm39)	S319T	probably damaging	Het
Krt16	T	A	11: 100,139,460 (GRCm39)	D86V	unknown	Het
Krt76	T	A	15: 101,795,938 (GRCm39)	T411S	possibly damaging	Het
Myh8	A	T	11: 67,194,538 (GRCm39)	D1583V	possibly damaging	Het
Nav1	A	T	1: 135,377,782 (GRCm39)	V1689D	probably damaging	Het
Ncor2	T	C	5: 125,114,141 (GRCm39)	T611A	possibly damaging	Het
Nipbl	T	A	15: 8,320,971 (GRCm39)	Y2712F	probably damaging	Het
Ntng2	T	A	2: 29,094,090 (GRCm39)	H427L	probably benign	Het
Pcdhga4	T	A	18: 37,820,374 (GRCm39)	L641Q	probably damaging	Het
Phc1	T	C	6: 122,299,340 (GRCm39)	K623R	probably benign	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Prcc	T	A	3: 87,777,052 (GRCm39)	E307D	possibly damaging	Het
Prss27	T	C	17: 24,261,932 (GRCm39)	F80S	probably damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Serpina11	T	C	12: 103,950,836 (GRCm39)	Q295R	probably benign	Het
Sgk2	G	T	2: 162,848,801 (GRCm39)	V284L	possibly damaging	Het
Slc15a2	C	T	16: 36,573,396 (GRCm39)	V603I	possibly damaging	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Stat1	A	G	1: 52,190,467 (GRCm39)	H574R	probably damaging	Het
Ston1	T	C	17: 88,943,881 (GRCm39)	V429A	possibly damaging	Het
Tep1	T	C	14: 51,081,344 (GRCm39)		probably null	Het
Tesk1	A	C	4: 43,447,143 (GRCm39)	R510S	probably damaging	Het
Themis	A	G	10: 28,658,470 (GRCm39)	E499G	probably benign	Het
Thra	G	A	11: 98,653,774 (GRCm39)	V202I	probably benign	Het
Tiam1	A	T	16: 89,694,977 (GRCm39)	M160K	probably benign	Het
Tmc1	T	C	19: 20,782,009 (GRCm39)	I570V	possibly damaging	Het
Treml1	C	A	17: 48,673,784 (GRCm39)	P270Q	probably damaging	Het
Ttc39d	A	G	17: 80,523,575 (GRCm39)	N78S	probably damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Ttll3	AAGTA	AAGTAGAGTA	6: 113,376,120 (GRCm39)		probably null	Het
Ube3b	T	A	5: 114,539,373 (GRCm39)	L388Q	probably damaging	Het
Ugt2b35	T	A	5: 87,149,218 (GRCm39)	C156*	probably null	Het
Vmn1r35	A	T	6: 66,656,443 (GRCm39)	C76S	probably damaging	Het
Wwc2	A	G	8: 48,443,197 (GRCm39)	L12P	probably damaging	Het
Zfat	T	C	15: 68,051,769 (GRCm39)	E668G	probably benign	Het
Zfp40	T	C	17: 23,395,301 (GRCm39)	T429A	probably benign	Het

Other mutations in 1700013G24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01547:1700013G24Rik	APN	4	137,182,573 (GRCm39)	missense	possibly damaging	0.82
IGL02646:1700013G24Rik	APN	4	137,182,101 (GRCm39)	nonsense	probably null
R0526:1700013G24Rik	UTSW	4	137,182,535 (GRCm39)	missense	possibly damaging	0.92
R1449:1700013G24Rik	UTSW	4	137,182,666 (GRCm39)	missense	possibly damaging	0.94
R3743:1700013G24Rik	UTSW	4	137,182,348 (GRCm39)	missense	probably damaging	0.96
R5357:1700013G24Rik	UTSW	4	137,182,463 (GRCm39)	missense	possibly damaging	0.90
R6265:1700013G24Rik	UTSW	4	137,181,986 (GRCm39)	missense	probably damaging	1.00
R6586:1700013G24Rik	UTSW	4	137,182,639 (GRCm39)	missense	possibly damaging	0.90
R6720:1700013G24Rik	UTSW	4	137,181,997 (GRCm39)	missense	possibly damaging	0.94
R6988:1700013G24Rik	UTSW	4	137,181,890 (GRCm39)	missense	probably damaging	1.00
R7640:1700013G24Rik	UTSW	4	137,181,905 (GRCm39)	missense	probably damaging	0.99
R8905:1700013G24Rik	UTSW	4	137,182,553 (GRCm39)	missense	probably benign
R9536:1700013G24Rik	UTSW	4	137,182,623 (GRCm39)	missense	probably damaging	0.99
Z1176:1700013G24Rik	UTSW	4	137,182,303 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACAACTGCTTGGTCCCTTC -3'
(R):5'- ATATGTTGTGTCAGGAGTTCCAGC -3'

Sequencing Primer
(F):5'- TCGGGACACCAAGAGCCTG -3'
(R):5'- CCTGGGCAACTGAGTTGAGAC -3'

Posted On

2019-12-03