Mutagenetix > Incidental Mutation

Incidental Mutation 'R6720:1700013G24Rik'

529532

Institutional Source

Beutler Lab

Gene Symbol

1700013G24Rik

Ensembl Gene

ENSMUSG00000041399

Gene Name

RIKEN cDNA 1700013G24 gene

Synonyms

MMRRC Submission

044838-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137453284-137455461 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 137454686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 51 (E51K)

Ref Sequence

ENSEMBL: ENSMUSP00000043461 (fasta)

Gene Model

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

AlphaFold

Q9DAC6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048893
AA Change: E51K

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000043461
Gene: ENSMUSG00000041399
AA Change: E51K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.6%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	C	4: 53,083,733	L700R	probably damaging	Het
Arpc1a	C	A	5: 145,101,222		probably null	Het
Baz2b	G	T	2: 59,924,890	P241Q	probably damaging	Het
Cd6	T	A	19: 10,794,609	T414S	probably benign	Het
Ces2b	A	T	8: 104,836,869	E409D	probably benign	Het
Cfap54	A	G	10: 92,821,119	Y3024H	probably benign	Het
Chrm1	A	G	19: 8,678,548	T206A	probably benign	Het
Clptm1l	T	C	13: 73,618,516	W512R	probably damaging	Het
Col15a1	T	A	4: 47,247,552		probably null	Het
Cox15	A	G	19: 43,736,789	S392P	probably damaging	Het
Cr2	T	C	1: 195,155,200	M1197V	probably damaging	Het
Ddx60	A	G	8: 62,000,689	K1281E	probably benign	Het
Dnah11	A	G	12: 118,045,646	F2094L	probably damaging	Het
Ear2	T	A	14: 44,102,959	C25S	probably damaging	Het
Ect2l	T	C	10: 18,140,264	D802G	probably damaging	Het
Eftud2	G	A	11: 102,838,623	Q84*	probably null	Het
Eif4g3	T	A	4: 138,175,832		probably null	Het
Ephb2	T	C	4: 136,657,502	D866G	probably damaging	Het
Fam129b	T	A	2: 32,905,826	V22D	probably damaging	Het
Farsb	A	G	1: 78,472,497	M99T	probably damaging	Het
Foxs1	T	A	2: 152,932,720	S138C	probably damaging	Het
Frem1	T	G	4: 83,013,832	S211R	probably damaging	Het
Gm19410	G	A	8: 35,807,576	R1517Q	probably benign	Het
Gria2	T	C	3: 80,802,304	I27M	probably benign	Het
H2-Q7	A	G	17: 35,442,678	E299G	probably benign	Het
Hao2	T	G	3: 98,877,135	I305L	probably benign	Het
Hectd4	C	T	5: 121,307,381	Q122*	probably null	Het
Hivep1	T	A	13: 42,164,284	C2079S	probably damaging	Het
Hoxb1	C	A	11: 96,366,987	Q248K	probably damaging	Het
Hspb6	A	G	7: 30,554,347	D95G	probably benign	Het
Ighv5-2	T	A	12: 113,578,506	R117S	probably damaging	Het
Ino80d	A	C	1: 63,058,610	S708R	probably damaging	Het
Lman1l	A	G	9: 57,614,072		probably null	Het
Mmp15	A	G	8: 95,365,314	N51D	probably benign	Het
Naip1	T	C	13: 100,423,077	M1140V	probably benign	Het
Olfr1053	A	G	2: 86,315,065	S74P	probably damaging	Het
Olfr1373	A	G	11: 52,144,693	V279A	probably benign	Het
Olfr397	A	G	11: 73,965,465	N286D	probably damaging	Het
Olfr890	T	A	9: 38,143,153	M1K	probably null	Het
Pard3b	A	T	1: 62,159,470	N239I	probably damaging	Het
Parvb	C	T	15: 84,297,979	R237W	probably damaging	Het
Pcdha9	T	C	18: 36,998,069	S64P	probably damaging	Het
Pdcd1	T	C	1: 94,041,389	N68S	probably benign	Het
Pi4ka	G	T	16: 17,326,052		probably null	Het
Plekha4	A	T	7: 45,540,886	D359V	possibly damaging	Het
Serpinb13	A	G	1: 106,994,062	I78V	probably benign	Het
Slc39a7	T	A	17: 34,030,108	T269S	probably benign	Het
Sltm	T	G	9: 70,573,710	D281E	probably damaging	Het
Zfp708	T	C	13: 67,071,432	Y76C	probably damaging	Het
Zfp990	T	A	4: 145,536,927	V165D	possibly damaging	Het

Other mutations in 1700013G24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01547:1700013G24Rik	APN	4	137455262	missense	possibly damaging	0.82
IGL02646:1700013G24Rik	APN	4	137454790	nonsense	probably null
R0526:1700013G24Rik	UTSW	4	137455224	missense	possibly damaging	0.92
R1449:1700013G24Rik	UTSW	4	137455355	missense	possibly damaging	0.94
R3743:1700013G24Rik	UTSW	4	137455037	missense	probably damaging	0.96
R5357:1700013G24Rik	UTSW	4	137455152	missense	possibly damaging	0.90
R6265:1700013G24Rik	UTSW	4	137454675	missense	probably damaging	1.00
R6586:1700013G24Rik	UTSW	4	137455328	missense	possibly damaging	0.90
R6988:1700013G24Rik	UTSW	4	137454579	missense	probably damaging	1.00
R7640:1700013G24Rik	UTSW	4	137454594	missense	probably damaging	0.99
R7825:1700013G24Rik	UTSW	4	137455343	missense	probably damaging	1.00
R8905:1700013G24Rik	UTSW	4	137455242	missense	probably benign
R9536:1700013G24Rik	UTSW	4	137455312	missense	probably damaging	0.99
Z1176:1700013G24Rik	UTSW	4	137454992	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACTTGACCCGGCCAGAAAG -3'
(R):5'- AATGCCTTTGATGAGCTGGTCTAG -3'

Sequencing Primer
(F):5'- TTGACCCGGCCAGAAAGATGTC -3'
(R):5'- CTGTGCAGATCAGGCAGTG -3'

Posted On

2018-08-01