Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4402001:1700129C05Rik'

555543

Institutional Source

Beutler Lab

Gene Symbol

1700129C05Rik

Ensembl Gene

ENSMUSG00000021977

Gene Name

RIKEN cDNA 1700129C05 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

PIT4402001 (G1)

Quality Score

188.009

Status

Not validated

Chromosome

Chromosomal Location

59370489-59380342 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 59380084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 71 (L71F)

Ref Sequence

ENSEMBL: ENSMUSP00000022548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022548] [ENSMUST00000159858] [ENSMUST00000162271] [ENSMUST00000162674]

AlphaFold

Q9CQ77

Predicted Effect

probably damaging
Transcript: ENSMUST00000022548
AA Change: L71F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022548
Gene: ENSMUSG00000021977
AA Change: L71F

Domain	Start	End	E-Value	Type
low complexity region	34	46	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000159858
AA Change: L71F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125361
Gene: ENSMUSG00000021977
AA Change: L71F

Domain	Start	End	E-Value	Type
low complexity region	34	46	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162271

Predicted Effect

probably benign
Transcript: ENSMUST00000162674

Coding Region Coverage

1x: 92.8%
3x: 90.3%
10x: 83.2%
20x: 68.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	C	T	6: 92,849,328 (GRCm39)	V1044I	probably benign	Het
Alcam	T	C	16: 52,115,497 (GRCm39)	Y207C	probably damaging	Het
Aldh4a1	C	A	4: 139,369,502 (GRCm39)	S351*	probably null	Het
Aoah	C	A	13: 20,978,680 (GRCm39)	S39R	probably benign	Het
Arcn1	A	T	9: 44,656,899 (GRCm39)	V421E	possibly damaging	Het
Ccdc18	A	G	5: 108,306,485 (GRCm39)	E300G	possibly damaging	Het
Cdk2ap2	C	A	19: 4,148,557 (GRCm39)	R126S	probably damaging	Het
Dcun1d4	A	G	5: 73,668,276 (GRCm39)	I39V	probably benign	Het
Fam53b	A	T	7: 132,361,746 (GRCm39)	I94N	probably damaging	Het
Fam83g	A	G	11: 61,594,422 (GRCm39)	H652R	probably damaging	Het
Fanca	A	T	8: 124,039,803 (GRCm39)	M157K	possibly damaging	Het
Flt1	A	T	5: 147,615,049 (GRCm39)	I299N	probably damaging	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,497,361 (GRCm39)		probably null	Het
Gns	A	G	10: 121,212,611 (GRCm39)	Y191C	probably damaging	Het
Grin2a	T	C	16: 9,462,063 (GRCm39)	T690A	possibly damaging	Het
Gsk3b	C	T	16: 37,909,763 (GRCm39)		probably benign	Het
Igsf10	A	G	3: 59,233,000 (GRCm39)	V1911A	probably benign	Het
Igsf3	A	G	3: 101,334,393 (GRCm39)	K157E	probably benign	Het
Inpp5a	T	C	7: 139,091,369 (GRCm39)	Y118H	probably benign	Het
Kmt2a	A	G	9: 44,752,359 (GRCm39)	V1413A	unknown	Het
Mettl9	T	A	7: 120,656,440 (GRCm39)	V190E	probably damaging	Het
Mrps9	T	C	1: 42,935,258 (GRCm39)	L188P	probably benign	Het
Myo9a	A	T	9: 59,777,719 (GRCm39)	R1158S	possibly damaging	Het
Nacad	T	G	11: 6,548,621 (GRCm39)	Q1371P	probably benign	Het
Ncoa1	T	C	12: 4,344,987 (GRCm39)	M787V	probably benign	Het
Noxred1	A	T	12: 87,273,855 (GRCm39)	I62K	probably benign	Het
Or1j4	A	T	2: 36,740,316 (GRCm39)	H86L	probably benign	Het
Or2d3b	T	A	7: 106,514,294 (GRCm39)	D296E	possibly damaging	Het
Or2y17	A	G	11: 49,232,226 (GRCm39)	Y289C	probably damaging	Het
Or52d1	A	G	7: 103,755,657 (GRCm39)	Y57C	probably damaging	Het
Otud6b	A	G	4: 14,818,185 (GRCm39)	Y239H	probably damaging	Het
Pank1	A	G	19: 34,818,366 (GRCm39)	Y233H	probably damaging	Het
Pccb	G	T	9: 100,877,645 (GRCm39)	D286E	probably benign	Het
Plek	A	C	11: 16,940,121 (GRCm39)	L196R	probably benign	Het
Pou6f2	T	C	13: 18,299,931 (GRCm39)	H576R		Het
Rbm47	T	A	5: 66,184,354 (GRCm39)	Y83F	probably damaging	Het
Rbm6	A	T	9: 107,665,049 (GRCm39)	Y787N	probably damaging	Het
Slc8a2	C	A	7: 15,868,419 (GRCm39)	A217E	probably damaging	Het
Suox	G	A	10: 128,507,164 (GRCm39)	A288V	probably damaging	Het
Tbccd1	T	C	16: 22,640,873 (GRCm39)	I501M	probably damaging	Het
Tjp2	C	A	19: 24,075,493 (GRCm39)	G1042*	probably null	Het
Tmtc2	T	C	10: 105,249,268 (GRCm39)	Y155C	probably damaging	Het
Usp7	T	C	16: 8,516,359 (GRCm39)	N600S	probably benign	Het
Zer1	T	C	2: 29,991,132 (GRCm39)	I699V	probably damaging	Het
Zfp142	A	G	1: 74,618,687 (GRCm39)	F227S	probably damaging	Het

Other mutations in 1700129C05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01475:1700129C05Rik	APN	14	59,380,252 (GRCm39)	missense	possibly damaging	0.85
IGL02960:1700129C05Rik	APN	14	59,380,257 (GRCm39)	missense	probably benign	0.11
R0226:1700129C05Rik	UTSW	14	59,379,569 (GRCm39)	missense	possibly damaging	0.92
R0324:1700129C05Rik	UTSW	14	59,380,256 (GRCm39)	missense	probably damaging	0.99
R0345:1700129C05Rik	UTSW	14	59,377,079 (GRCm39)	missense	possibly damaging	0.66
R2251:1700129C05Rik	UTSW	14	59,380,061 (GRCm39)	missense	probably damaging	0.99
R2252:1700129C05Rik	UTSW	14	59,380,061 (GRCm39)	missense	probably damaging	0.99
R2253:1700129C05Rik	UTSW	14	59,380,061 (GRCm39)	missense	probably damaging	0.99
R5574:1700129C05Rik	UTSW	14	59,380,205 (GRCm39)	missense	possibly damaging	0.59
R7572:1700129C05Rik	UTSW	14	59,380,128 (GRCm39)	missense	possibly damaging	0.95
R8346:1700129C05Rik	UTSW	14	59,380,221 (GRCm39)	missense	probably damaging	0.99
R8394:1700129C05Rik	UTSW	14	59,379,623 (GRCm39)	missense	probably benign
X0063:1700129C05Rik	UTSW	14	59,377,498 (GRCm39)	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- ACCTCCTCTGGCTGAAAGTAG -3'
(R):5'- TAAGAGCTCTGCAGGGTCTG -3'

Sequencing Primer
(F):5'- GCTGAAAGTAGCTAGTTTCCAGATG -3'
(R):5'- TTGGGAAGTCTACGCAATCC -3'

Posted On

2019-06-07