Mutagenetix > Incidental Mutation

Incidental Mutation 'R9442:1700122O11Rik'

713707

Institutional Source

Beutler Lab

Gene Symbol

1700122O11Rik

Ensembl Gene

ENSMUSG00000094928

Gene Name

RIKEN cDNA 1700122O11 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R9442 (G1)

Quality Score

211.009

Status

Validated

Chromosome

Chromosomal Location

48347554-48349102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48347580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 241 (K241N)

Ref Sequence

ENSEMBL: ENSMUSP00000137519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178823]

AlphaFold

J3QPW6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178823
AA Change: K241N

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

SMART Domains

Protein: ENSMUSP00000137519
Gene: ENSMUSG00000094928
AA Change: K241N

Domain	Start	End	E-Value	Type
coiled coil region	42	73	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	T	8: 25,296,510 (GRCm39)	S312R	probably damaging	Het
Atg9a	C	T	1: 75,163,086 (GRCm39)	C338Y	possibly damaging	Het
Cage1	T	C	13: 38,196,447 (GRCm39)	E749G	possibly damaging	Het
Catspere2	C	A	1: 177,931,275 (GRCm39)	T398K	unknown	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Ccndbp1	T	C	2: 120,839,013 (GRCm39)	V8A	probably benign	Het
Cenpt	T	C	8: 106,575,418 (GRCm39)	D228G	probably benign	Het
Cfap57	A	G	4: 118,463,731 (GRCm39)		probably null	Het
Cyp4a32	T	A	4: 115,468,422 (GRCm39)	N301K	probably benign	Het
Epha6	T	C	16: 60,025,850 (GRCm39)	T531A	probably benign	Het
Gmeb1	A	T	4: 131,962,156 (GRCm39)	C168S	probably damaging	Het
H2-DMa	G	A	17: 34,357,132 (GRCm39)	R210H	possibly damaging	Het
Ighv1-7	T	G	12: 114,502,198 (GRCm39)	T90P	probably damaging	Het
Kalrn	A	C	16: 33,916,249 (GRCm39)	M1R	probably null	Het
Kcnrg	CACAACAA	CACAA	14: 61,845,009 (GRCm39)		probably benign	Het
Krtap14	T	C	16: 88,622,865 (GRCm39)	D38G	possibly damaging	Het
Lrrc8e	A	G	8: 4,283,964 (GRCm39)	N63S	probably benign	Het
Map4k2	T	A	19: 6,392,814 (GRCm39)	L152Q	probably damaging	Het
Mcf2l	A	G	8: 13,023,048 (GRCm39)	D78G	possibly damaging	Het
Ms4a6c	T	C	19: 11,449,851 (GRCm39)	V81A	probably benign	Het
Mtnr1b	T	C	9: 15,785,660 (GRCm39)	T33A	probably benign	Het
Muc16	T	A	9: 18,566,624 (GRCm39)	Q1965L	unknown	Het
Nfatc2	A	C	2: 168,328,898 (GRCm39)		probably benign	Het
Nlrp9b	C	T	7: 19,779,707 (GRCm39)	T790I	possibly damaging	Het
Nol4	A	T	18: 22,902,899 (GRCm39)	C371S	probably damaging	Het
Ntn1	A	C	11: 68,148,485 (GRCm39)		probably benign	Het
Or14j3	A	G	17: 37,900,633 (GRCm39)	S204P	possibly damaging	Het
Orc1	T	C	4: 108,469,357 (GRCm39)	V727A	probably benign	Het
Phf20l1	C	T	15: 66,484,888 (GRCm39)	Q318*	probably null	Het
Psg18	A	T	7: 18,083,185 (GRCm39)	Y323*	probably null	Het
Ptk2b	T	C	14: 66,409,189 (GRCm39)	Y529C	probably damaging	Het
Rrm1	A	G	7: 102,108,598 (GRCm39)	Y374C	probably damaging	Het
Selp	T	A	1: 163,964,765 (GRCm39)	F476I	probably damaging	Het
Sema3b	A	G	9: 107,478,957 (GRCm39)		probably null	Het
Setdb2	T	G	14: 59,639,849 (GRCm39)	T665P	probably damaging	Het
Sorbs3	T	C	14: 70,424,387 (GRCm39)	Y515C	probably damaging	Het
St13	G	A	15: 81,272,575 (GRCm39)	P90S	possibly damaging	Het
Stag1	T	A	9: 100,836,306 (GRCm39)	I1197N	probably damaging	Het
Svs3a	A	G	2: 164,132,179 (GRCm39)	Y250C	probably damaging	Het
Ticam1	T	C	17: 56,577,428 (GRCm39)	I556V	probably benign	Het
Vmn1r180	A	G	7: 23,651,620 (GRCm39)		probably benign	Het
Xirp2	T	A	2: 67,342,235 (GRCm39)	L1492*	probably null	Het
Zfp438	A	G	18: 5,214,379 (GRCm39)	V193A	probably benign	Het
Zfp729b	A	G	13: 67,739,337 (GRCm39)	V976A	probably benign	Het

Other mutations in 1700122O11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02830:1700122O11Rik	APN	17	48,348,235 (GRCm39)	missense	possibly damaging	0.46
IGL02927:1700122O11Rik	APN	17	48,347,729 (GRCm39)	nonsense	probably null
R2013:1700122O11Rik	UTSW	17	48,347,723 (GRCm39)	missense	possibly damaging	0.53
R2014:1700122O11Rik	UTSW	17	48,347,723 (GRCm39)	missense	possibly damaging	0.53
R4698:1700122O11Rik	UTSW	17	48,349,049 (GRCm39)	missense	possibly damaging	0.46
R5194:1700122O11Rik	UTSW	17	48,348,059 (GRCm39)	missense	probably benign
R6352:1700122O11Rik	UTSW	17	48,347,945 (GRCm39)	missense	probably benign	0.08
R6512:1700122O11Rik	UTSW	17	48,347,672 (GRCm39)	missense	possibly damaging	0.83
R7546:1700122O11Rik	UTSW	17	48,348,330 (GRCm39)	missense	probably benign
R8429:1700122O11Rik	UTSW	17	48,347,875 (GRCm39)	nonsense	probably null
R9089:1700122O11Rik	UTSW	17	48,347,951 (GRCm39)	nonsense	probably null
R9165:1700122O11Rik	UTSW	17	48,348,357 (GRCm39)	missense	probably benign	0.05
R9377:1700122O11Rik	UTSW	17	48,348,273 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGCTCAGACTGTACACTGGG -3'
(R):5'- GATCTACTATGCCCAAGACAGG -3'

Sequencing Primer
(F):5'- CTCAGACTGTACACTGGGCATTG -3'
(R):5'- GGCAACAGCAGACCGCAATG -3'

Posted On

2022-06-15