Mutagenetix > Incidental Mutation

Incidental Mutation 'R7406:2900092C05Rik'

574734

Institutional Source

Beutler Lab

Gene Symbol

2900092C05Rik

Ensembl Gene

ENSMUSG00000030385

Gene Name

RIKEN cDNA 2900092C05 gene

Synonyms

MMRRC Submission

045487-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R7406 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12246444-12290250 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12249391 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 75 (T75A)

Ref Sequence

ENSEMBL: ENSMUSP00000032541 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032541]

AlphaFold

Q5I0V9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032541
AA Change: T75A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000032541
Gene: ENSMUSG00000030385
AA Change: T75A

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
transmembrane domain	96	118	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	C	1: 85,974,231 (GRCm39)	S183P	possibly damaging	Het
Abhd8	A	G	8: 71,914,406 (GRCm39)	V74A	probably benign	Het
Agrn	A	C	4: 156,256,758 (GRCm39)	S1282R	possibly damaging	Het
Atf5	T	C	7: 44,462,380 (GRCm39)	N248S	possibly damaging	Het
Atp2a3	A	G	11: 72,869,576 (GRCm39)	Y497C	probably damaging	Het
Bpifa2	T	G	2: 153,851,739 (GRCm39)	S58R	probably benign	Het
Cacna1h	C	T	17: 25,604,600 (GRCm39)	E1238K	possibly damaging	Het
Ccdc71	T	A	9: 108,340,523 (GRCm39)	L112*	probably null	Het
Cd300e	A	T	11: 114,946,128 (GRCm39)	I111N	probably damaging	Het
Cdkl3	A	T	11: 51,924,369 (GRCm39)	E552D	probably benign	Het
Chst5	A	G	8: 112,617,245 (GRCm39)	V125A	probably benign	Het
Clock	A	T	5: 76,414,692 (GRCm39)	M1K	probably null	Het
Cops7b	T	A	1: 86,528,852 (GRCm39)	L193Q	probably benign	Het
Csmd1	T	C	8: 16,338,707 (GRCm39)	T467A	probably damaging	Het
Ctr9	A	G	7: 110,652,615 (GRCm39)	E971G	unknown	Het
Dcp2	A	G	18: 44,543,254 (GRCm39)	T271A	probably benign	Het
Dsp	A	G	13: 38,381,172 (GRCm39)	N2639S	possibly damaging	Het
Fhip1a	T	C	3: 85,637,784 (GRCm39)	I172V	probably benign	Het
Gm11168	C	G	9: 3,006,912 (GRCm39)	C212W	probably benign	Het
Gpr179	G	T	11: 97,242,420 (GRCm39)	D141E	probably damaging	Het
H2bc4	A	G	13: 23,868,342 (GRCm39)	Y43C	probably damaging	Het
Hdhd2	C	T	18: 77,031,811 (GRCm39)	T89M	probably benign	Het
Krt6b	T	G	15: 101,587,513 (GRCm39)	T194P	probably benign	Het
Lrp1b	T	C	2: 41,266,030 (GRCm39)		probably null	Het
Maneal	A	T	4: 124,754,161 (GRCm39)	I214N	possibly damaging	Het
Map1lc3b	T	A	8: 122,317,355 (GRCm39)	C11S	unknown	Het
Mapt	G	A	11: 104,213,350 (GRCm39)	G296E	possibly damaging	Het
Mgam	A	G	6: 40,640,459 (GRCm39)	N509S	probably benign	Het
Mrgprx1	T	A	7: 47,671,733 (GRCm39)	I5F	possibly damaging	Het
Mroh5	T	C	15: 73,659,583 (GRCm39)	D416G	probably benign	Het
Ncan	T	G	8: 70,562,749 (GRCm39)	D503A	probably benign	Het
Nedd1	A	T	10: 92,547,185 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,298,351 (GRCm39)	T641A	probably benign	Het
Or2b6	T	C	13: 21,823,316 (GRCm39)	I126V	probably benign	Het
Or4k2	T	A	14: 50,424,015 (GRCm39)	I221F	probably damaging	Het
Or6c219	A	T	10: 129,781,435 (GRCm39)	D50E	probably benign	Het
Or8b1b	T	A	9: 38,375,439 (GRCm39)	M34K	possibly damaging	Het
Pcdhga8	A	C	18: 37,859,238 (GRCm39)	Q98P	possibly damaging	Het
Pik3c2a	A	G	7: 115,953,242 (GRCm39)	Y1218H	probably damaging	Het
Ppp3cc	A	T	14: 70,483,387 (GRCm39)	S229T	possibly damaging	Het
Prss43	T	G	9: 110,657,764 (GRCm39)	I221S	probably damaging	Het
Rasal1	A	T	5: 120,801,002 (GRCm39)	T221S	probably benign	Het
Serpinb9f	G	T	13: 33,518,543 (GRCm39)	E348*	probably null	Het
Sfxn5	A	G	6: 85,244,889 (GRCm39)	Y169H	probably damaging	Het
Skint9	T	C	4: 112,246,428 (GRCm39)	N228S	probably benign	Het
Slx4ip	A	T	2: 136,842,162 (GRCm39)	D29V	probably damaging	Het
Snx29	G	T	16: 11,573,180 (GRCm39)	G474V	probably damaging	Het
Spata6	T	A	4: 111,638,017 (GRCm39)	D282E	possibly damaging	Het
Srek1	A	T	13: 103,905,890 (GRCm39)	V77E	probably damaging	Het
Timd6	A	G	11: 46,468,285 (GRCm39)	T120A	possibly damaging	Het
Tmt1a3	T	C	15: 100,233,289 (GRCm39)	V160A	probably benign	Het
Tnfrsf22	T	C	7: 143,194,564 (GRCm39)	D121G	probably damaging	Het
Ucma	G	A	2: 4,990,170 (GRCm39)	W122*	probably null	Het
Vmn2r124	T	C	17: 18,282,306 (GRCm39)	M113T	unknown	Het
Vmn2r54	A	T	7: 12,350,150 (GRCm39)		probably null	Het
Vmn2r8	A	G	5: 108,948,442 (GRCm39)	L482S	probably benign	Het
Vwa3a	T	A	7: 120,378,138 (GRCm39)	I476N	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr26	A	T	1: 181,015,240 (GRCm39)	S390R	probably damaging	Het
Zbtb40	A	T	4: 136,728,205 (GRCm39)	S471T	probably benign	Het

Other mutations in 2900092C05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00714:2900092C05Rik	APN	7	12,289,931 (GRCm39)	splice site	probably benign
IGL01744:2900092C05Rik	APN	7	12,284,459 (GRCm39)	missense	possibly damaging	0.92
IGL03047:2900092C05Rik	UTSW	7	12,246,568 (GRCm39)	missense	possibly damaging	0.92
R0001:2900092C05Rik	UTSW	7	12,288,534 (GRCm39)	splice site	probably benign
R0607:2900092C05Rik	UTSW	7	12,288,625 (GRCm39)	missense	probably benign	0.19
R0831:2900092C05Rik	UTSW	7	12,284,523 (GRCm39)	splice site	probably benign
R1468:2900092C05Rik	UTSW	7	12,246,507 (GRCm39)	start codon destroyed	probably null	0.83
R1468:2900092C05Rik	UTSW	7	12,246,507 (GRCm39)	start codon destroyed	probably null	0.83
R1846:2900092C05Rik	UTSW	7	12,246,809 (GRCm39)	missense	probably benign	0.38
R1852:2900092C05Rik	UTSW	7	12,246,629 (GRCm39)	splice site	probably null
R1912:2900092C05Rik	UTSW	7	12,288,582 (GRCm39)	missense	probably benign	0.01
R3442:2900092C05Rik	UTSW	7	12,246,583 (GRCm39)	nonsense	probably null
R3694:2900092C05Rik	UTSW	7	12,284,443 (GRCm39)	missense	possibly damaging	0.46
R3751:2900092C05Rik	UTSW	7	12,289,973 (GRCm39)	missense	probably benign	0.02
R5977:2900092C05Rik	UTSW	7	12,288,664 (GRCm39)	missense	probably benign	0.17
R6158:2900092C05Rik	UTSW	7	12,246,599 (GRCm39)	missense	probably benign	0.37
R6777:2900092C05Rik	UTSW	7	12,246,756 (GRCm39)	missense	probably benign	0.00
R6931:2900092C05Rik	UTSW	7	12,246,523 (GRCm39)	missense	unknown
R7284:2900092C05Rik	UTSW	7	12,246,605 (GRCm39)	nonsense	probably null
R8472:2900092C05Rik	UTSW	7	12,246,568 (GRCm39)	missense	possibly damaging	0.92
R8802:2900092C05Rik	UTSW	7	12,249,415 (GRCm39)	missense	possibly damaging	0.66
R8877:2900092C05Rik	UTSW	7	12,288,704 (GRCm39)	critical splice donor site	probably null
R9175:2900092C05Rik	UTSW	7	12,249,412 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTCCTGAGTCTGCAAAACTAAG -3'
(R):5'- GGTGGCACCATCACAAATCC -3'

Sequencing Primer
(F):5'- TGAGTCTGCAAAACTAAGGAGTTATG -3'
(R):5'- CAAATCCAACTATTCAAAGGGATTGG -3'

Posted On

2019-10-07