Mutagenetix > Incidental Mutation

Incidental Mutation 'R8370:1700014D04Rik'

646352

Institutional Source

Beutler Lab

Gene Symbol

1700014D04Rik

Ensembl Gene

ENSMUSG00000051054

Gene Name

RIKEN cDNA 1700014D04 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R8370 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59740842-59746752 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59743952 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 18 (D18G)

Ref Sequence

ENSEMBL: ENSMUSP00000136424 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055343] [ENSMUST00000178508] [ENSMUST00000180139]

AlphaFold

J3QMS2

Predicted Effect

probably benign
Transcript: ENSMUST00000055343

SMART Domains

Protein: ENSMUSP00000052403
Gene: ENSMUSG00000051054

Domain	Start	End	E-Value	Type
low complexity region	204	215	N/A	INTRINSIC
low complexity region	253	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178508
AA Change: D18G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136897
Gene: ENSMUSG00000051054
AA Change: D18G

Domain	Start	End	E-Value	Type
Pfam:FAM75	66	99	7.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180139
AA Change: D18G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: D18G

Domain	Start	End	E-Value	Type
Pfam:FAM75	66	439	6.9e-97	PFAM
low complexity region	622	633	N/A	INTRINSIC
low complexity region	671	693	N/A	INTRINSIC
low complexity region	737	763	N/A	INTRINSIC
low complexity region	824	835	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	T	C	14: 95,882,494	L229P	probably damaging	Het
Adamts5	A	G	16: 85,899,993	V92A	possibly damaging	Het
Armc2	T	A	10: 41,923,837	N675I	possibly damaging	Het
Cav1	A	G	6: 17,339,294	H126R	possibly damaging	Het
Clca4b	A	G	3: 144,926,063	F227S	probably damaging	Het
Clec4a4	G	A	6: 122,991,799	G41D	probably damaging	Het
Commd1	A	T	11: 22,982,104	L51Q	probably damaging	Het
Dhx57	A	T	17: 80,245,763	V1245D	probably damaging	Het
Ephb2	A	G	4: 136,655,991	I925T	possibly damaging	Het
Eprs	T	A	1: 185,399,257	I700K	probably damaging	Het
Fry	C	A	5: 150,395,819	T983K	probably damaging	Het
Gm14325	T	C	2: 177,832,592	I232M	probably benign	Het
Golgb1	A	G	16: 36,912,317	H683R	probably benign	Het
Kcnq5	G	A	1: 21,479,424	R360C	probably damaging	Het
Kif9	C	T	9: 110,488,613	R113C	probably damaging	Het
Klhl33	C	T	14: 50,892,232	R312Q	probably damaging	Het
Lama5	T	C	2: 180,201,487	E489G	possibly damaging	Het
Lhb	A	G	7: 45,421,642	D97G	probably damaging	Het
Lrp1b	T	C	2: 40,998,105	D2381G		Het
Miga2	AAGAG	AAG	2: 30,375,743		probably null	Het
Mmp17	A	G	5: 129,605,578	D427G	probably damaging	Het
Mrps18b	T	C	17: 35,912,362	I131V	probably benign	Het
Nav1	T	A	1: 135,471,144	K567*	probably null	Het
Ncam1	T	A	9: 49,557,131	R343*	probably null	Het
Nfrkb	T	A	9: 31,405,579	N591K	probably damaging	Het
Numb	A	T	12: 83,808,200	C117*	probably null	Het
Olfr1487	T	A	19: 13,619,297	I2N	probably damaging	Het
Olfr522	A	T	7: 140,162,768	Y61N	probably damaging	Het
Pfpl	A	T	19: 12,429,911	N509Y	probably damaging	Het
Prss58	C	A	6: 40,895,424	G222C	probably damaging	Het
Ptx4	C	A	17: 25,123,340	P263Q	possibly damaging	Het
Ribc2	T	G	15: 85,143,288	H323Q	probably benign	Het
Rsf1	CGGCGGC	CGGCGGCGGGGGCGGC	7: 97,579,929		probably benign	Het
Smchd1	G	A	17: 71,394,913	T1028M	probably benign	Het
Srebf1	T	C	11: 60,202,196	I806V	probably benign	Het
Trim14	A	T	4: 46,523,711	L109Q	probably damaging	Het
Wdfy4	A	T	14: 33,093,251	H1602Q		Het
Zbtb48	A	G	4: 152,021,287		probably null	Het
Zranb3	T	C	1: 127,967,933	E726G	probably benign	Het

Other mutations in 1700014D04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB010:1700014D04Rik	UTSW	13	59743751	missense	probably damaging	1.00
BB020:1700014D04Rik	UTSW	13	59743751	missense	probably damaging	1.00
R0838:1700014D04Rik	UTSW	13	59742468	missense	possibly damaging	0.75
R1483:1700014D04Rik	UTSW	13	59742903	missense	probably damaging	0.99
R1794:1700014D04Rik	UTSW	13	59742620	missense	probably benign	0.22
R1842:1700014D04Rik	UTSW	13	59742506	missense	probably damaging	1.00
R1969:1700014D04Rik	UTSW	13	59742785	missense	probably damaging	0.98
R2027:1700014D04Rik	UTSW	13	59742587	missense	possibly damaging	0.48
R2206:1700014D04Rik	UTSW	13	59743106	missense	probably benign	0.40
R2207:1700014D04Rik	UTSW	13	59743106	missense	probably benign	0.40
R2882:1700014D04Rik	UTSW	13	59742943	missense	probably benign	0.00
R3508:1700014D04Rik	UTSW	13	59742505	nonsense	probably null
R4447:1700014D04Rik	UTSW	13	59742198	missense	probably benign	0.03
R4560:1700014D04Rik	UTSW	13	59741757	missense	probably damaging	1.00
R4846:1700014D04Rik	UTSW	13	59742233	missense	probably benign	0.00
R5186:1700014D04Rik	UTSW	13	59743739	missense	probably damaging	1.00
R5510:1700014D04Rik	UTSW	13	59742420	splice site	probably null
R5580:1700014D04Rik	UTSW	13	59742256	missense	probably benign	0.00
R5752:1700014D04Rik	UTSW	13	59743202	missense	probably damaging	0.96
R6266:1700014D04Rik	UTSW	13	59742312	missense	probably benign	0.33
R6267:1700014D04Rik	UTSW	13	59742683	missense	probably benign	0.13
R6296:1700014D04Rik	UTSW	13	59742683	missense	probably benign	0.13
R6939:1700014D04Rik	UTSW	13	59742058	missense	possibly damaging	0.75
R6973:1700014D04Rik	UTSW	13	59742707	missense	probably benign	0.14
R7107:1700014D04Rik	UTSW	13	59742183	nonsense	probably null
R7123:1700014D04Rik	UTSW	13	59743440	nonsense	probably null
R7254:1700014D04Rik	UTSW	13	59741976	missense	probably benign	0.01
R7354:1700014D04Rik	UTSW	13	59741834	nonsense	probably null
R7536:1700014D04Rik	UTSW	13	59741742	missense	probably damaging	0.99
R7729:1700014D04Rik	UTSW	13	59741623	missense	not run
R7912:1700014D04Rik	UTSW	13	59742515	missense	probably damaging	1.00
R7933:1700014D04Rik	UTSW	13	59743751	missense	probably damaging	1.00
R8029:1700014D04Rik	UTSW	13	59742377	missense	possibly damaging	0.79
R8347:1700014D04Rik	UTSW	13	59742236	missense	possibly damaging	0.63
R8395:1700014D04Rik	UTSW	13	59741726	missense	probably benign	0.00
R8508:1700014D04Rik	UTSW	13	59743598	missense	probably benign	0.02
R8930:1700014D04Rik	UTSW	13	59742201	missense	possibly damaging	0.76
R8932:1700014D04Rik	UTSW	13	59742201	missense	possibly damaging	0.76
R9127:1700014D04Rik	UTSW	13	59743014	missense	probably benign	0.00
R9262:1700014D04Rik	UTSW	13	59742588	missense	probably benign	0.00
R9401:1700014D04Rik	UTSW	13	59742198	missense	probably benign	0.03
R9514:1700014D04Rik	UTSW	13	59742992	missense	probably damaging	0.96
X0024:1700014D04Rik	UTSW	13	59742725	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGACTCACTGTGCAGAGAG -3'
(R):5'- AGATCGTCACGCTGGTTCTC -3'

Sequencing Primer
(F):5'- CAGAAGAGCTGGCTGTGTTTC -3'
(R):5'- TCGGCAGGAGAAAGCTTTCCTG -3'

Posted On

2020-09-02