Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4618001:I830077J02Rik'

555682

Institutional Source

Beutler Lab

Gene Symbol

I830077J02Rik

Ensembl Gene

ENSMUSG00000074342

Gene Name

RIKEN cDNA I830077J02 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

PIT4618001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105831674-105839980 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 105833886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 90 (T90M)

Ref Sequence

ENSEMBL: ENSMUSP00000096354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010279] [ENSMUST00000098758] [ENSMUST00000198080] [ENSMUST00000199977] [ENSMUST00000200482]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000010279

SMART Domains

Protein: ENSMUSP00000010279
Gene: ENSMUSG00000074344

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
IG	20	115	3.94e0	SMART
transmembrane domain	151	173	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000098758
AA Change: T90M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096354
Gene: ENSMUSG00000074342
AA Change: T90M

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
low complexity region	80	89	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126230

Predicted Effect

probably benign
Transcript: ENSMUST00000196099

Predicted Effect

probably benign
Transcript: ENSMUST00000198080

SMART Domains

Protein: ENSMUSP00000143300
Gene: ENSMUSG00000074344

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
IG	20	115	3.94e0	SMART
transmembrane domain	151	173	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199977

SMART Domains

Protein: ENSMUSP00000142671
Gene: ENSMUSG00000074344

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
IG	20	115	1.6e-2	SMART
transmembrane domain	151	173	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200482

SMART Domains

Protein: ENSMUSP00000142695
Gene: ENSMUSG00000074344

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
IG	20	115	1.6e-2	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 93.4%
3x: 91.0%
10x: 85.9%
20x: 75.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	T	5: 107,693,575 (GRCm39)	D64V	probably damaging	Het
Ankdd1a	A	C	9: 65,414,932 (GRCm39)	I268S	possibly damaging	Het
Atad3a	C	T	4: 155,834,595 (GRCm39)	R402Q	probably benign	Het
C3ar1	A	G	6: 122,827,746 (GRCm39)	V157A	probably benign	Het
Cd200l1	A	G	16: 45,264,297 (GRCm39)	F87S	probably benign	Het
Cd55	C	T	1: 130,384,606 (GRCm39)	V206I	probably benign	Het
Cd8a	A	G	6: 71,350,661 (GRCm39)	D42G	possibly damaging	Het
Cemip	G	T	7: 83,593,147 (GRCm39)	F1185L	probably benign	Het
Cfap58	A	G	19: 47,963,953 (GRCm39)	D527G	probably damaging	Het
Cyp2a12	C	A	7: 26,734,198 (GRCm39)	S377Y	probably benign	Het
Dapk2	A	G	9: 66,175,968 (GRCm39)	D289G	probably benign	Het
Efcab6	G	A	15: 83,867,647 (GRCm39)	A277V	probably benign	Het
Ephx2	A	T	14: 66,339,671 (GRCm39)	F250L	probably damaging	Het
Flg2	A	T	3: 93,111,088 (GRCm39)	S1039C	unknown	Het
Gramd1a	A	G	7: 30,832,021 (GRCm39)	V674A	probably benign	Het
Gtf2a1	A	C	12: 91,534,543 (GRCm39)	V237G	probably benign	Het
Jagn1	T	A	6: 113,424,398 (GRCm39)	L90H	probably damaging	Het
Mdn1	G	T	4: 32,746,527 (GRCm39)	A4158S	probably benign	Het
Myh11	G	A	16: 14,018,930 (GRCm39)	A1839V		Het
Olr1	G	A	6: 129,476,869 (GRCm39)	A132V	probably damaging	Het
Paqr3	A	T	5: 97,251,330 (GRCm39)	H131Q	possibly damaging	Het
Pde4b	A	T	4: 102,460,009 (GRCm39)	T397S	probably benign	Het
Pon1	A	G	6: 5,168,349 (GRCm39)	C353R	probably damaging	Het
Ppie	G	A	4: 123,032,661 (GRCm39)	T43I	probably null	Het
Prr5l	A	G	2: 101,588,875 (GRCm39)	F92L	probably damaging	Het
Rai14	T	C	15: 10,575,242 (GRCm39)	Y601C	probably damaging	Het
Rasal1	A	G	5: 120,808,441 (GRCm39)	D491G	probably damaging	Het
Rbm12b1	T	A	4: 12,145,441 (GRCm39)	V471E	probably damaging	Het
Rpusd2	T	C	2: 118,868,933 (GRCm39)	L452P	possibly damaging	Het
Scgb2b24	A	T	7: 33,438,036 (GRCm39)	C24S	probably damaging	Het
Slc17a5	C	T	9: 78,445,530 (GRCm39)	V468M	possibly damaging	Het
Tcp10c	A	G	17: 13,576,772 (GRCm39)	K117R	possibly damaging	Het
Ubash3b	A	G	9: 40,927,923 (GRCm39)	S584P	probably benign	Het
Vps13b	C	T	15: 35,709,386 (GRCm39)	R1778C	probably damaging	Het
Ythdc2	A	G	18: 44,967,665 (GRCm39)	I220M	probably benign	Het
Zfp474	C	A	18: 52,771,476 (GRCm39)	T43K	probably damaging	Het
Zscan4-ps3	G	A	7: 11,347,261 (GRCm39)	M432I	probably benign	Het

Other mutations in I830077J02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:I830077J02Rik	APN	3	105,836,049 (GRCm39)	critical splice donor site	probably null
IGL02034:I830077J02Rik	APN	3	105,834,565 (GRCm39)	unclassified	probably benign
R0115:I830077J02Rik	UTSW	3	105,833,886 (GRCm39)	missense	probably damaging	1.00
R0207:I830077J02Rik	UTSW	3	105,833,821 (GRCm39)	missense	probably benign	0.34
R2427:I830077J02Rik	UTSW	3	105,835,320 (GRCm39)	missense	probably damaging	0.96
R6841:I830077J02Rik	UTSW	3	105,833,830 (GRCm39)	missense	possibly damaging	0.87
R8130:I830077J02Rik	UTSW	3	105,834,233 (GRCm39)	missense	possibly damaging	0.92
R8139:I830077J02Rik	UTSW	3	105,835,314 (GRCm39)	missense	probably benign	0.23
R8443:I830077J02Rik	UTSW	3	105,836,060 (GRCm39)	missense	probably damaging	0.98
R8792:I830077J02Rik	UTSW	3	105,835,104 (GRCm39)	unclassified	probably benign
Z1088:I830077J02Rik	UTSW	3	105,834,529 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATAGAGTGTGGTCCCAGG -3'
(R):5'- CATCACTTTCTGGACTCTGGG -3'

Sequencing Primer
(F):5'- GTCCCAGGTTTGTGGAAAAC -3'
(R):5'- ACTTTCTGGACTCTGGGCAAGTAG -3'

Posted On

2019-06-07