Mutagenetix > Incidental Mutation

Incidental Mutation 'R8429:2900026A02Rik'

653641

Institutional Source

Beutler Lab

Gene Symbol

2900026A02Rik

Ensembl Gene

ENSMUSG00000051339

Gene Name

RIKEN cDNA 2900026A02 gene

Synonyms

LOC231620, Gm449

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R8429 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113086323-113221236 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113183436 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 971 (T971A)

Ref Sequence

ENSEMBL: ENSMUSP00000147419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000211733]

AlphaFold

Q8BRV5

Predicted Effect

probably benign
Transcript: ENSMUST00000211733
AA Change: T971A

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	A	T	17: 48,037,066	L143*	probably null	Het
4932415D10Rik	G	T	10: 82,289,467	Q2570K	possibly damaging	Het
4933425L06Rik	A	G	13: 105,118,788	Y459C	probably damaging	Het
Abca6	A	T	11: 110,202,382	C1022S	probably benign	Het
Adgrf4	G	T	17: 42,667,449	N334K	probably benign	Het
Baz1b	A	G	5: 135,217,331	K545E	probably benign	Het
Bin3	A	G	14: 70,137,149	Y209C	probably damaging	Het
Btbd16	G	A	7: 130,795,337	A223T	probably benign	Het
C3	A	G	17: 57,222,811	V555A	probably damaging	Het
Calm3	T	A	7: 16,919,667		probably null	Het
Cct4	T	A	11: 22,996,030	L124Q	probably damaging	Het
Cenpf	C	T	1: 189,657,307	D1443N	possibly damaging	Het
Egfem1	G	A	3: 29,657,268		probably null	Het
Epha4	G	T	1: 77,390,036	Q591K	probably benign	Het
Fanci	T	C	7: 79,438,385	F929L	possibly damaging	Het
Fnip1	A	T	11: 54,475,696	D95V	possibly damaging	Het
Foxc1	A	T	13: 31,807,776	H190L	probably benign	Het
Gm45713	T	C	7: 45,136,116	S2G	unknown	Het
Grin2b	T	C	6: 135,733,916	I877M	probably damaging	Het
Hadha	T	C	5: 30,144,257	I119V	probably benign	Het
Hcar2	C	T	5: 123,865,475		probably benign	Het
Krt13	A	T	11: 100,121,125	L124Q	probably damaging	Het
Larp1b	A	G	3: 40,977,227	*336W	probably null	Het
Lrmp	C	A	6: 145,165,223	D251E	probably damaging	Het
Man2c1	T	C	9: 57,131,161	L35P	probably damaging	Het
Meioc	A	T	11: 102,674,206	N160I	probably benign	Het
Mfsd2b	G	T	12: 4,866,487	Q331K	possibly damaging	Het
Mical2	T	A	7: 112,345,253	V930E	probably benign	Het
Mrgprb4	A	T	7: 48,198,425	F252I	probably benign	Het
Nars	A	G	18: 64,501,320	Y511H	probably damaging	Het
Naxe	C	A	3: 88,058,152	S84I	probably damaging	Het
Ncam2	A	T	16: 81,589,635	D634V	probably damaging	Het
Npat	C	T	9: 53,570,609	Q1206*	probably null	Het
Nr1d2	G	A	14: 18,215,409	T201I	probably benign	Het
Nup155	C	T	15: 8,112,420	H99Y	probably damaging	Het
Olfr1130	G	T	2: 87,607,524	L45F	probably benign	Het
Olfr1289	G	A	2: 111,483,495	V50I	possibly damaging	Het
Olfr209	A	G	16: 59,361,627	V197A	possibly damaging	Het
Olfr826	A	G	10: 130,180,223	V219A	possibly damaging	Het
Pcnx3	C	T	19: 5,665,384	G1946E	probably damaging	Het
Pde6a	T	A	18: 61,232,844	Y214N	probably damaging	Het
Pex7	T	C	10: 19,894,328	T145A	probably damaging	Het
Plekhj1	C	T	10: 80,796,470	S146N	probably benign	Het
Ralgapb	C	T	2: 158,426,297	P107S	probably damaging	Het
Satb1	A	G	17: 51,767,950	M506T	probably damaging	Het
Sh3gl1	T	C	17: 56,018,821	N203D	possibly damaging	Het
Slc7a12	A	T	3: 14,497,282	I240F	probably benign	Het
Syt17	T	A	7: 118,434,341	Y144F	probably benign	Het
Thbd	G	T	2: 148,407,537	T137K	possibly damaging	Het
Tmem114	A	G	16: 8,412,167	F124L	probably damaging	Het
Ubtd1	G	T	19: 42,032,117		probably null	Het
Zfp458	A	G	13: 67,258,088	Y96H	possibly damaging	Het
Zfp78	T	C	7: 6,378,493	S181P	probably benign	Het

Other mutations in 2900026A02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02810:2900026A02Rik	APN	5	113101535	missense	probably damaging	1.00
oyster	UTSW	5	113182967	missense	probably benign	0.14
pimento	UTSW	5	113095607	missense	probably damaging	1.00
R1394:2900026A02Rik	UTSW	5	113101496	missense	probably damaging	1.00
R1395:2900026A02Rik	UTSW	5	113101496	missense	probably damaging	1.00
R4329:2900026A02Rik	UTSW	5	113095589	critical splice donor site	probably null
R4766:2900026A02Rik	UTSW	5	113097636	missense	probably benign	0.01
R6124:2900026A02Rik	UTSW	5	113183756	missense	probably benign
R6336:2900026A02Rik	UTSW	5	113183483	missense	possibly damaging	0.88
R6365:2900026A02Rik	UTSW	5	113182644	missense	probably benign	0.00
R6575:2900026A02Rik	UTSW	5	113182817	missense	probably damaging	1.00
R6759:2900026A02Rik	UTSW	5	113183826	missense	probably benign	0.00
R7117:2900026A02Rik	UTSW	5	113191384	missense	probably benign	0.00
R7168:2900026A02Rik	UTSW	5	113137793	missense	probably damaging	0.96
R7339:2900026A02Rik	UTSW	5	113183072	missense	probably benign	0.09
R7450:2900026A02Rik	UTSW	5	113184111	missense	possibly damaging	0.78
R7458:2900026A02Rik	UTSW	5	113190644	missense	probably benign	0.05
R7525:2900026A02Rik	UTSW	5	113183355	missense	probably damaging	0.99
R7707:2900026A02Rik	UTSW	5	113137986	start codon destroyed	probably benign	0.14
R7848:2900026A02Rik	UTSW	5	113192141	missense	probably damaging	0.96
R7869:2900026A02Rik	UTSW	5	113184135	missense	possibly damaging	0.47
R7871:2900026A02Rik	UTSW	5	113183226	missense	probably benign	0.02
R8327:2900026A02Rik	UTSW	5	113183819	missense	possibly damaging	0.94
R8411:2900026A02Rik	UTSW	5	113137722	missense	probably benign
R8940:2900026A02Rik	UTSW	5	113093202	missense	probably benign	0.07
R9065:2900026A02Rik	UTSW	5	113175218	missense	probably benign	0.00
R9096:2900026A02Rik	UTSW	5	113191927	missense
R9182:2900026A02Rik	UTSW	5	113095607	missense	probably damaging	1.00
R9191:2900026A02Rik	UTSW	5	113182698	missense	probably benign	0.34
R9330:2900026A02Rik	UTSW	5	113182967	missense	probably benign	0.14
R9336:2900026A02Rik	UTSW	5	113093100	critical splice donor site	probably null
R9375:2900026A02Rik	UTSW	5	113184701	missense	probably benign
R9388:2900026A02Rik	UTSW	5	113190848	missense	probably benign	0.00
R9483:2900026A02Rik	UTSW	5	113191144	missense	probably benign	0.01
R9529:2900026A02Rik	UTSW	5	113183816	missense	possibly damaging	0.61
R9675:2900026A02Rik	UTSW	5	113191961	missense	probably damaging	1.00
R9784:2900026A02Rik	UTSW	5	113190661	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- GGAGACCATGGCTCTTCATG -3'
(R):5'- AATGAGGAGGTCCAACCCTTC -3'

Sequencing Primer
(F):5'- TCTTCATGGCCGGGAGAAG -3'
(R):5'- GTCCAACCCTTCAGAGCTGAG -3'

Posted On

2020-10-20