Mutagenetix > Incidental Mutation

Incidental Mutation 'R8906:1810055G02Rik'

680156

Institutional Source

Beutler Lab

Gene Symbol

1810055G02Rik

Ensembl Gene

ENSMUSG00000035372

Gene Name

RIKEN cDNA 1810055G02 gene

Synonyms

MMRRC Submission

068699-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R8906 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3708333-3717881 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 3716686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 91 (N91T)

Ref Sequence

ENSEMBL: ENSMUSP00000047063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039048]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039048
AA Change: N91T

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000047063
Gene: ENSMUSG00000035372
AA Change: N91T

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	86	97	N/A	INTRINSIC
low complexity region	265	288	N/A	INTRINSIC
low complexity region	292	310	N/A	INTRINSIC
transmembrane domain	343	365	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (88/88)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	CCGGAAGGGGAGGAGCAGTGACCCAGTTTCGGA	CCGGA	16: 21,653,398 (GRCm38)		probably null	Het
4932414N04Rik	A	G	2: 68,732,154 (GRCm38)	D375G	possibly damaging	Het
Adad2	C	A	8: 119,612,986 (GRCm38)	P69Q	probably benign	Het
Adamts3	G	A	5: 89,677,716 (GRCm38)	T1088I	probably damaging	Het
Ank2	A	G	3: 126,933,071 (GRCm38)	V858A	probably benign	Het
Ankrd13a	A	G	5: 114,801,737 (GRCm38)	N475S	probably benign	Het
Barhl2	G	A	5: 106,455,486 (GRCm38)	T269I	probably benign	Het
Boc	G	A	16: 44,503,568 (GRCm38)	R157W		Het
Bsn	G	T	9: 108,107,553 (GRCm38)	P3101T	unknown	Het
Catsperb	C	A	12: 101,520,645 (GRCm38)	A477E	possibly damaging	Het
Ccser1	T	A	6: 61,810,858 (GRCm38)	I220K	probably benign	Het
Cd200r3	A	T	16: 44,957,739 (GRCm38)	I242F	possibly damaging	Het
Cdc34b	A	C	11: 94,742,085 (GRCm38)	D37A	probably damaging	Het
Chek2	A	G	5: 110,865,592 (GRCm38)		probably benign	Het
Cngb1	A	T	8: 95,263,108 (GRCm38)	V792D	probably damaging	Het
Cops7a	T	C	6: 124,962,408 (GRCm38)	K93E	possibly damaging	Het
Crispld1	T	C	1: 17,750,771 (GRCm38)	I345T	possibly damaging	Het
Dgkd	A	G	1: 87,941,435 (GRCm38)	D1170G	probably damaging	Het
Dhx35	A	G	2: 158,806,998 (GRCm38)	T115A	possibly damaging	Het
Dnai1	G	A	4: 41,625,125 (GRCm38)	R363H	probably benign	Het
Dnmbp	T	A	19: 43,890,242 (GRCm38)	Q130L	probably benign	Het
Egfr	A	G	11: 16,911,635 (GRCm38)	Y1138C	probably damaging	Het
Elf3	A	T	1: 135,254,940 (GRCm38)	L329Q	probably damaging	Het
Enkur	A	G	2: 21,196,757 (GRCm38)	M39T	probably benign	Het
Epha7	T	C	4: 28,821,615 (GRCm38)	I260T	probably damaging	Het
Fbxo28	A	T	1: 182,317,069 (GRCm38)	I310K	probably damaging	Het
Fga	C	A	3: 83,031,804 (GRCm38)	N495K	probably benign	Het
Galnt6	T	C	15: 100,703,366 (GRCm38)	D344G	probably damaging	Het
Gm572	A	G	4: 148,666,833 (GRCm38)	Q221R	probably benign	Het
Gpa33	G	A	1: 166,146,647 (GRCm38)	A18T	probably benign	Het
Gpatch11	C	T	17: 78,837,860 (GRCm38)	T6I	probably benign	Het
Gpr84	T	A	15: 103,309,198 (GRCm38)	S151C	probably damaging	Het
H2-M11	T	A	17: 36,548,959 (GRCm38)	Y281*	probably null	Het
Hadh	T	C	3: 131,245,242 (GRCm38)	N155S	probably benign	Het
Hoxd13	A	G	2: 74,669,922 (GRCm38)	Y269C		Het
Iars1	T	A	13: 49,728,701 (GRCm38)	C1074S	probably benign	Het
Ibtk	G	T	9: 85,743,404 (GRCm38)	H98N	possibly damaging	Het
Igsf10	C	T	3: 59,326,318 (GRCm38)	G1665R	probably benign	Het
Inpp5d	A	G	1: 87,697,615 (GRCm38)		probably benign	Het
Ipo9	A	C	1: 135,394,213 (GRCm38)	V593G	probably damaging	Het
Irx3	T	C	8: 91,800,287 (GRCm38)	D263G	possibly damaging	Het
Kif13a	A	G	13: 46,773,678 (GRCm38)	V1179A	probably benign	Het
Lrrc4c	T	C	2: 97,630,048 (GRCm38)	Y340H	probably benign	Het
Lysmd1	A	G	3: 95,137,908 (GRCm38)	D155G	probably damaging	Het
Micalcl	T	A	7: 112,381,464 (GRCm38)	I105N	probably damaging	Het
Mob2	A	T	7: 142,009,524 (GRCm38)	L66Q	probably damaging	Het
Myh1	A	G	11: 67,205,913 (GRCm38)	S337G	probably benign	Het
Neb	T	C	2: 52,206,247 (GRCm38)	D1002G	probably benign	Het
Nebl	A	T	2: 17,378,117 (GRCm38)	N116K	probably benign	Het
Nkx2-6	T	C	14: 69,175,174 (GRCm38)	S264P	probably benign	Het
Nlgn3	T	C	X: 101,308,784 (GRCm38)	V179A	probably damaging	Het
Nlrp4e	A	G	7: 23,321,131 (GRCm38)	T348A	possibly damaging	Het
Nomo1	A	T	7: 46,072,580 (GRCm38)	I982F	probably benign	Het
Or10j5	A	G	1: 172,956,619 (GRCm38)		probably benign	Het
Or11g24	T	G	14: 50,424,834 (GRCm38)	F105C	probably damaging	Het
Or1j19	A	T	2: 36,786,609 (GRCm38)	Y28F	probably benign	Het
Or8g22	A	G	9: 39,046,781 (GRCm38)	F213L	possibly damaging	Het
Palld	A	G	8: 61,550,164 (GRCm38)		probably null	Het
Pcdh7	A	G	5: 57,721,812 (GRCm38)	Y903C	probably damaging	Het
Pknox2	G	A	9: 36,892,871 (GRCm38)	T460M	possibly damaging	Het
Ppm1h	C	T	10: 122,878,546 (GRCm38)	T330I	probably damaging	Het
Ppp2r2b	C	T	18: 42,688,334 (GRCm38)	R253H	probably damaging	Het
Pramel58	G	T	5: 94,683,554 (GRCm38)	R140L	possibly damaging	Het
Prr18	G	A	17: 8,341,644 (GRCm38)	A211T	probably benign	Het
Ptgs2	A	G	1: 150,104,108 (GRCm38)	I321M		Het
Rara	G	T	11: 98,970,163 (GRCm38)	R159L	probably damaging	Het
Rasa4	T	A	5: 136,104,592 (GRCm38)	I635N	probably benign	Het
Rxfp2	A	T	5: 150,066,423 (GRCm38)	H423L	possibly damaging	Het
Scn4b	A	G	9: 45,147,871 (GRCm38)	I147V	possibly damaging	Het
Scrn3	C	A	2: 73,331,011 (GRCm38)	P314T	possibly damaging	Het
Scrn3	G	A	2: 73,331,008 (GRCm38)	V313I	probably benign	Het
Sh2b1	A	G	7: 126,471,120 (GRCm38)		probably null	Het
Slc26a10	T	C	10: 127,180,590 (GRCm38)	Q3R	probably benign	Het
Slitrk1	A	G	14: 108,911,707 (GRCm38)	I524T	probably damaging	Het
Smcp	T	A	3: 92,584,223 (GRCm38)	N106Y	unknown	Het
Spata31h1	T	C	10: 82,286,545 (GRCm38)	T3544A	probably benign	Het
St8sia5	G	A	18: 77,248,476 (GRCm38)	V202M	probably damaging	Het
Stxbp5l	A	T	16: 37,208,164 (GRCm38)	D512E	probably damaging	Het
Tas1r2	A	G	4: 139,669,735 (GRCm38)	E795G	probably damaging	Het
Tdrd1	T	A	19: 56,842,713 (GRCm38)	V320D	probably damaging	Het
Tmem71	T	A	15: 66,532,757 (GRCm38)	I261L	probably benign	Het
Tns2	T	C	15: 102,111,604 (GRCm38)	L643P	probably damaging	Het
Upf1	G	A	8: 70,334,165 (GRCm38)	Q890*	probably null	Het
Usp43	A	T	11: 67,891,481 (GRCm38)	H370Q	possibly damaging	Het
Vmn1r236	T	A	17: 21,287,094 (GRCm38)	I158N	possibly damaging	Het
Vmn2r98	T	A	17: 19,066,270 (GRCm38)	N343K	probably benign	Het
Vwa8	T	C	14: 79,092,375 (GRCm38)	S1216P	probably benign	Het
Yars1	A	C	4: 129,196,954 (GRCm38)	D97A	probably damaging	Het
Zer1	G	A	2: 30,111,023 (GRCm38)	H129Y	probably benign	Het
Zfat	C	T	15: 68,084,555 (GRCm38)	D1143N	possibly damaging	Het

Other mutations in 1810055G02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01024:1810055G02Rik	APN	19	3,717,040 (GRCm38)	missense	probably benign	0.02
IGL02883:1810055G02Rik	APN	19	3,716,972 (GRCm38)	missense	possibly damaging	0.83
R0909:1810055G02Rik	UTSW	19	3,715,788 (GRCm38)	missense	probably benign	0.00
R1482:1810055G02Rik	UTSW	19	3,717,192 (GRCm38)	missense	probably benign	0.01
R2158:1810055G02Rik	UTSW	19	3,716,608 (GRCm38)	missense	possibly damaging	0.46
R4833:1810055G02Rik	UTSW	19	3,716,872 (GRCm38)	missense	possibly damaging	0.87
R5012:1810055G02Rik	UTSW	19	3,717,217 (GRCm38)	missense	possibly damaging	0.92
R5557:1810055G02Rik	UTSW	19	3,717,501 (GRCm38)	missense	possibly damaging	0.66
R7411:1810055G02Rik	UTSW	19	3,717,241 (GRCm38)	missense	possibly damaging	0.92
R7573:1810055G02Rik	UTSW	19	3,715,728 (GRCm38)	start codon destroyed	probably null	0.04
R8164:1810055G02Rik	UTSW	19	3,717,454 (GRCm38)	missense	probably benign
R8265:1810055G02Rik	UTSW	19	3,716,568 (GRCm38)	missense	probably benign	0.00
R8781:1810055G02Rik	UTSW	19	3,717,538 (GRCm38)	missense	possibly damaging	0.90
R9224:1810055G02Rik	UTSW	19	3,717,100 (GRCm38)	missense	possibly damaging	0.66
R9614:1810055G02Rik	UTSW	19	3,717,364 (GRCm38)	missense	possibly damaging	0.92
R9712:1810055G02Rik	UTSW	19	3,715,784 (GRCm38)	missense	probably benign
X0026:1810055G02Rik	UTSW	19	3,716,826 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CTCCTGCATGTGGTTGAAAGTG -3'
(R):5'- CTGGCATTTGTTCTTGGCAC -3'

Sequencing Primer
(F):5'- TAGTCACTAACAAGTGGCCTAAAG -3'
(R):5'- CTTGGCACTTCTGCATGTG -3'

Posted On

2021-08-31