Mutagenetix > Incidental Mutation

Incidental Mutation 'R9262:1700014D04Rik'

702342

Institutional Source

Beutler Lab

Gene Symbol

1700014D04Rik

Ensembl Gene

ENSMUSG00000051054

Gene Name

RIKEN cDNA 1700014D04 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R9262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

59740842-59746752 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 59742588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 473 (M473V)

Ref Sequence

ENSEMBL: ENSMUSP00000136424 (fasta)

Gene Model

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

AlphaFold

J3QMS2

Predicted Effect

probably benign
Transcript: ENSMUST00000055343
AA Change: M55V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000052403
Gene: ENSMUSG00000051054
AA Change: M55V

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

SMART Domains

Protein: ENSMUSP00000136897
Gene: ENSMUSG00000051054

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

Predicted Effect

probably benign
Transcript: ENSMUST00000180139
AA Change: M473V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: M473V

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: 98.6%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,613,031 (GRCm38)	H192L	unknown	Het
Abca4	T	A	3: 122,170,990 (GRCm38)	C2149S	probably damaging	Het
Abl2	G	A	1: 156,642,250 (GRCm38)	G1028D	possibly damaging	Het
Adgre1	A	G	17: 57,447,941 (GRCm38)	T680A	probably damaging	Het
Amn	G	A	12: 111,271,151 (GRCm38)	W10*	probably null	Het
Ankhd1	G	T	18: 36,632,746 (GRCm38)	V140F		Het
Asnsd1	A	T	1: 53,344,775 (GRCm38)	N613K	probably benign	Het
Bbs2	A	T	8: 94,080,915 (GRCm38)	I417N	probably damaging	Het
Cad	T	A	5: 31,067,665 (GRCm38)	W971R	probably null	Het
Cand2	A	T	6: 115,782,769 (GRCm38)	I134F	probably benign	Het
Ccdc154	C	A	17: 25,170,186 (GRCm38)	H453N	probably damaging	Het
Ccdc7a	T	A	8: 128,759,796 (GRCm38)	H1601L	possibly damaging	Het
Ccdc9	A	C	7: 16,278,475 (GRCm38)	S261A	probably benign	Het
Cdkl3	T	A	11: 52,025,875 (GRCm38)	S277T	probably benign	Het
Cipc	T	A	12: 86,952,723 (GRCm38)	Y8*	probably null	Het
Cramp1l	A	G	17: 25,013,946 (GRCm38)	S27P	probably damaging	Het
Csf1r	A	T	18: 61,110,334 (GRCm38)	M141L	probably benign	Het
Csf2rb2	G	T	15: 78,284,335 (GRCm38)	F873L	probably damaging	Het
Dchs1	G	A	7: 105,755,626 (GRCm38)	R2570W	probably damaging	Het
Dmxl1	A	T	18: 49,843,852 (GRCm38)	N94Y	probably benign	Het
Dnajc10	A	G	2: 80,346,621 (GRCm38)	K640R	probably benign	Het
Epha8	A	C	4: 136,931,684 (GRCm38)	H886Q	probably benign	Het
Fcgbp	G	C	7: 28,120,527 (GRCm38)	D2560H	probably damaging	Het
Fry	T	G	5: 150,381,644 (GRCm38)	F605V	probably damaging	Het
Fsip2	A	G	2: 82,977,318 (GRCm38)	N1327S	probably benign	Het
Gm12117	T	C	11: 33,276,001 (GRCm38)	T112A	probably benign	Het
Gm3604	A	T	13: 62,369,883 (GRCm38)	N220K	probably damaging	Het
Gm572	T	C	4: 148,651,195 (GRCm38)	V27A	probably benign	Het
Gm6614	G	T	6: 141,980,868 (GRCm38)	F597L	probably damaging	Het
Gm8251	A	G	1: 44,057,109 (GRCm38)	S1610P	possibly damaging	Het
Gm853	A	G	4: 130,220,360 (GRCm38)	V88A	possibly damaging	Het
Gpr39	A	G	1: 125,872,787 (GRCm38)	K425R	probably benign	Het
Heatr3	A	G	8: 88,156,469 (GRCm38)	D349G	probably benign	Het
Hip1	A	G	5: 135,449,687 (GRCm38)	S248P	probably damaging	Het
Itga11	A	G	9: 62,752,396 (GRCm38)		probably benign	Het
Itga3	C	T	11: 95,065,799 (GRCm38)	V210I	probably benign	Het
Jmjd1c	T	C	10: 67,248,014 (GRCm38)	I2173T	probably benign	Het
Klf13	G	A	7: 63,924,708 (GRCm38)	Q21*	probably null	Het
Kmt2a	A	T	9: 44,819,925 (GRCm38)	S3032T	probably benign	Het
Krt34	T	C	11: 100,040,025 (GRCm38)	R184G	probably benign	Het
Krtap16-1	T	C	11: 99,986,168 (GRCm38)	T137A	probably benign	Het
Mgam	T	C	6: 40,746,488 (GRCm38)		probably null	Het
Mog	T	C	17: 37,014,756 (GRCm38)	T196A	possibly damaging	Het
Ms4a6d	T	C	19: 11,601,852 (GRCm38)	Y87C	possibly damaging	Het
Ndrg4	C	T	8: 95,709,184 (GRCm38)		probably benign	Het
Nsd1	T	A	13: 55,247,058 (GRCm38)	M927K	possibly damaging	Het
Olfr1246	G	T	2: 89,591,091 (GRCm38)	T8K	probably damaging	Het
Olfr323	T	A	11: 58,625,456 (GRCm38)	M197L	probably benign	Het
Ovgp1	T	C	3: 105,986,567 (GRCm38)		probably benign	Het
Pcdhac2	A	G	18: 37,146,042 (GRCm38)	R692G	possibly damaging	Het
Pcsk4	T	A	10: 80,325,030 (GRCm38)	S321C	probably damaging	Het
Pi4ka	A	G	16: 17,302,995 (GRCm38)	F1292L		Het
Pigv	G	T	4: 133,669,799 (GRCm38)	P6Q	possibly damaging	Het
Pkhd1	A	C	1: 20,548,127 (GRCm38)	S927A	probably benign	Het
Pnpla3	A	T	15: 84,171,162 (GRCm38)	I90F	probably benign	Het
Pole	C	A	5: 110,325,556 (GRCm38)	L1739I	probably damaging	Het
Pole	T	A	5: 110,325,557 (GRCm38)	L1739H	probably damaging	Het
Rbm12	A	T	2: 156,097,397 (GRCm38)	N318K	possibly damaging	Het
Rpl18a	A	T	8: 70,895,535 (GRCm38)	L168Q	probably benign	Het
Ryr2	T	C	13: 11,750,968 (GRCm38)	N1294S	probably damaging	Het
Sema5b	T	C	16: 35,632,853 (GRCm38)	L98P	possibly damaging	Het
Smg7	A	G	1: 152,845,511 (GRCm38)	V650A	probably damaging	Het
Strada	C	T	11: 106,184,618 (GRCm38)	R13Q	probably damaging	Het
Sun1	T	C	5: 139,215,163 (GRCm38)	S37P	unknown	Het
Syce1l	T	C	8: 113,654,106 (GRCm38)		probably null	Het
Tdg	T	A	10: 82,644,673 (GRCm38)	F263L	probably damaging	Het
Tead3	G	T	17: 28,341,521 (GRCm38)	S36R	probably benign	Het
Timm44	A	G	8: 4,260,621 (GRCm38)	L377P	probably damaging	Het
Tk1	C	T	11: 117,825,755 (GRCm38)	V9M	probably benign	Het
Trim36	A	G	18: 46,167,439 (GRCm38)	Y722H	probably benign	Het
Ttn	A	T	2: 76,809,888 (GRCm38)	M13792K	possibly damaging	Het
Unc80	A	G	1: 66,555,252 (GRCm38)		probably benign	Het
Usp46	G	T	5: 74,029,304 (GRCm38)	A133E	probably benign	Het
Wnk2	T	A	13: 49,067,954 (GRCm38)	R1240S	probably benign	Het
Zfp821	G	A	8: 109,724,350 (GRCm38)	R325Q	probably damaging	Het

Other mutations in 1700014D04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB010:1700014D04Rik	UTSW	13	59,743,751 (GRCm38)	missense	probably damaging	1.00
BB020:1700014D04Rik	UTSW	13	59,743,751 (GRCm38)	missense	probably damaging	1.00
R0838:1700014D04Rik	UTSW	13	59,742,468 (GRCm38)	missense	possibly damaging	0.75
R1483:1700014D04Rik	UTSW	13	59,742,903 (GRCm38)	missense	probably damaging	0.99
R1794:1700014D04Rik	UTSW	13	59,742,620 (GRCm38)	missense	probably benign	0.22
R1842:1700014D04Rik	UTSW	13	59,742,506 (GRCm38)	missense	probably damaging	1.00
R1969:1700014D04Rik	UTSW	13	59,742,785 (GRCm38)	missense	probably damaging	0.98
R2027:1700014D04Rik	UTSW	13	59,742,587 (GRCm38)	missense	possibly damaging	0.48
R2206:1700014D04Rik	UTSW	13	59,743,106 (GRCm38)	missense	probably benign	0.40
R2207:1700014D04Rik	UTSW	13	59,743,106 (GRCm38)	missense	probably benign	0.40
R2882:1700014D04Rik	UTSW	13	59,742,943 (GRCm38)	missense	probably benign	0.00
R3508:1700014D04Rik	UTSW	13	59,742,505 (GRCm38)	nonsense	probably null
R4447:1700014D04Rik	UTSW	13	59,742,198 (GRCm38)	missense	probably benign	0.03
R4560:1700014D04Rik	UTSW	13	59,741,757 (GRCm38)	missense	probably damaging	1.00
R4846:1700014D04Rik	UTSW	13	59,742,233 (GRCm38)	missense	probably benign	0.00
R5186:1700014D04Rik	UTSW	13	59,743,739 (GRCm38)	missense	probably damaging	1.00
R5510:1700014D04Rik	UTSW	13	59,742,420 (GRCm38)	splice site	probably null
R5580:1700014D04Rik	UTSW	13	59,742,256 (GRCm38)	missense	probably benign	0.00
R5752:1700014D04Rik	UTSW	13	59,743,202 (GRCm38)	missense	probably damaging	0.96
R6266:1700014D04Rik	UTSW	13	59,742,312 (GRCm38)	missense	probably benign	0.33
R6267:1700014D04Rik	UTSW	13	59,742,683 (GRCm38)	missense	probably benign	0.13
R6296:1700014D04Rik	UTSW	13	59,742,683 (GRCm38)	missense	probably benign	0.13
R6939:1700014D04Rik	UTSW	13	59,742,058 (GRCm38)	missense	possibly damaging	0.75
R6973:1700014D04Rik	UTSW	13	59,742,707 (GRCm38)	missense	probably benign	0.14
R7107:1700014D04Rik	UTSW	13	59,742,183 (GRCm38)	nonsense	probably null
R7123:1700014D04Rik	UTSW	13	59,743,440 (GRCm38)	nonsense	probably null
R7254:1700014D04Rik	UTSW	13	59,741,976 (GRCm38)	missense	probably benign	0.01
R7354:1700014D04Rik	UTSW	13	59,741,834 (GRCm38)	nonsense	probably null
R7536:1700014D04Rik	UTSW	13	59,741,742 (GRCm38)	missense	probably damaging	0.99
R7729:1700014D04Rik	UTSW	13	59,741,623 (GRCm38)	missense	not run
R7912:1700014D04Rik	UTSW	13	59,742,515 (GRCm38)	missense	probably damaging	1.00
R7933:1700014D04Rik	UTSW	13	59,743,751 (GRCm38)	missense	probably damaging	1.00
R8029:1700014D04Rik	UTSW	13	59,742,377 (GRCm38)	missense	possibly damaging	0.79
R8347:1700014D04Rik	UTSW	13	59,742,236 (GRCm38)	missense	possibly damaging	0.63
R8370:1700014D04Rik	UTSW	13	59,743,952 (GRCm38)	missense	probably benign
R8395:1700014D04Rik	UTSW	13	59,741,726 (GRCm38)	missense	probably benign	0.00
R8508:1700014D04Rik	UTSW	13	59,743,598 (GRCm38)	missense	probably benign	0.02
R8930:1700014D04Rik	UTSW	13	59,742,201 (GRCm38)	missense	possibly damaging	0.76
R8932:1700014D04Rik	UTSW	13	59,742,201 (GRCm38)	missense	possibly damaging	0.76
R9127:1700014D04Rik	UTSW	13	59,743,014 (GRCm38)	missense	probably benign	0.00
R9401:1700014D04Rik	UTSW	13	59,742,198 (GRCm38)	missense	probably benign	0.03
R9514:1700014D04Rik	UTSW	13	59,742,992 (GRCm38)	missense	probably damaging	0.96
R9786:1700014D04Rik	UTSW	13	59,742,684 (GRCm38)	missense	possibly damaging	0.84
X0024:1700014D04Rik	UTSW	13	59,742,725 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGAGAAGGTCGGAGCTTC -3'
(R):5'- ACATGAGAAGCATTCTGAGGTTG -3'

Sequencing Primer
(F):5'- GACTGGGAAAGTTACTTTTCAAATCC -3'
(R):5'- CATTCTGAGGTTGCACATGAGCAG -3'

Posted On

2022-03-25