Mutagenetix > Incidental Mutation

Incidental Mutation 'R6129:2810408A11Rik'

487583

Institutional Source

Beutler Lab

Gene Symbol

2810408A11Rik

Ensembl Gene

ENSMUSG00000018570

Gene Name

RIKEN cDNA 2810408A11 gene

Synonyms

MMRRC Submission

044276-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6129 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

69788178-69791813 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 69789137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 354 (Y354F)

Ref Sequence

ENSEMBL: ENSMUSP00000104261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001631] [ENSMUST00000018714] [ENSMUST00000061837] [ENSMUST00000100969] [ENSMUST00000102580] [ENSMUST00000108617] [ENSMUST00000108621] [ENSMUST00000177138] [ENSMUST00000128046] [ENSMUST00000129234] [ENSMUST00000177476] [ENSMUST00000144431]

AlphaFold

Q6NSU2

Predicted Effect

probably benign
Transcript: ENSMUST00000001631

SMART Domains

Protein: ENSMUSP00000001631
Gene: ENSMUSG00000001588

Domain	Start	End	E-Value	Type
Pfam:BAR_3	5	240	2.1e-68	PFAM
PH	266	362	4.42e-15	SMART
ArfGap	405	527	2.42e-50	SMART
ANK	606	635	4.01e0	SMART
ANK	639	668	3.04e0	SMART
ANK	672	702	4.18e2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000018714
AA Change: Y354F

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

SMART Domains

Protein: ENSMUSP00000018714
Gene: ENSMUSG00000018570
AA Change: Y354F

Domain	Start	End	E-Value	Type
low complexity region	86	108	N/A	INTRINSIC
low complexity region	115	127	N/A	INTRINSIC
low complexity region	132	144	N/A	INTRINSIC
Pfam:IPP-2	150	277	1.3e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061837

SMART Domains

Protein: ENSMUSP00000053235
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
low complexity region	3	44	N/A	INTRINSIC
NEUZ	47	165	1.02e-28	SMART
low complexity region	207	237	N/A	INTRINSIC
NEUZ	317	442	7.22e-52	SMART
low complexity region	492	503	N/A	INTRINSIC
NEUZ	520	644	6.15e-46	SMART
low complexity region	686	700	N/A	INTRINSIC
NEUZ	716	840	7.81e-39	SMART
NEUZ	913	1043	2.27e-17	SMART
low complexity region	1108	1117	N/A	INTRINSIC
NEUZ	1130	1250	4.93e-6	SMART
low complexity region	1453	1464	N/A	INTRINSIC
low complexity region	1474	1483	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100969
AA Change: Y349F

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

SMART Domains

Protein: ENSMUSP00000098529
Gene: ENSMUSG00000018570
AA Change: Y349F

Domain	Start	End	E-Value	Type
low complexity region	86	108	N/A	INTRINSIC
low complexity region	115	127	N/A	INTRINSIC
low complexity region	132	144	N/A	INTRINSIC
Pfam:IPP-2	150	272	5.7e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102580
AA Change: Y354F

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

SMART Domains

Protein: ENSMUSP00000099640
Gene: ENSMUSG00000018570
AA Change: Y354F

Domain	Start	End	E-Value	Type
low complexity region	86	108	N/A	INTRINSIC
low complexity region	115	127	N/A	INTRINSIC
low complexity region	132	144	N/A	INTRINSIC
Pfam:IPP-2	153	270	6.2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108617

SMART Domains

Protein: ENSMUSP00000104257
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
low complexity region	3	44	N/A	INTRINSIC
NEUZ	47	165	3.5e-31	SMART
low complexity region	207	237	N/A	INTRINSIC
NEUZ	295	420	2.5e-54	SMART
low complexity region	470	481	N/A	INTRINSIC
NEUZ	498	622	2e-48	SMART
low complexity region	664	678	N/A	INTRINSIC
NEUZ	694	818	2.6e-41	SMART
NEUZ	891	1021	7.6e-20	SMART
low complexity region	1086	1095	N/A	INTRINSIC
NEUZ	1108	1228	1.7e-8	SMART
low complexity region	1431	1442	N/A	INTRINSIC
low complexity region	1452	1461	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108621
AA Change: Y354F

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

SMART Domains

Protein: ENSMUSP00000104261
Gene: ENSMUSG00000018570
AA Change: Y354F

Domain	Start	End	E-Value	Type
low complexity region	86	108	N/A	INTRINSIC
low complexity region	115	127	N/A	INTRINSIC
low complexity region	132	144	N/A	INTRINSIC
Pfam:IPP-2	150	277	1.3e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137122

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177160

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142121

Predicted Effect

probably benign
Transcript: ENSMUST00000177138

SMART Domains

Protein: ENSMUSP00000135277
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
low complexity region	3	44	N/A	INTRINSIC
NEUZ	47	165	1.02e-28	SMART
low complexity region	207	237	N/A	INTRINSIC
NEUZ	295	420	7.22e-52	SMART
low complexity region	470	481	N/A	INTRINSIC
NEUZ	498	622	6.15e-46	SMART
low complexity region	664	678	N/A	INTRINSIC
NEUZ	694	818	7.81e-39	SMART
NEUZ	889	1019	2.27e-17	SMART
low complexity region	1084	1093	N/A	INTRINSIC
NEUZ	1106	1226	4.93e-6	SMART
low complexity region	1429	1440	N/A	INTRINSIC
low complexity region	1450	1459	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128046

SMART Domains

Protein: ENSMUSP00000137547
Gene: ENSMUSG00000018570

Domain	Start	End	E-Value	Type
Pfam:IPP-2	1	77	1.7e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000129234

SMART Domains

Protein: ENSMUSP00000136835
Gene: ENSMUSG00000018570

Domain	Start	End	E-Value	Type
low complexity region	86	108	N/A	INTRINSIC
low complexity region	115	127	N/A	INTRINSIC
low complexity region	132	144	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177476

SMART Domains

Protein: ENSMUSP00000135185
Gene: ENSMUSG00000047284

Domain	Start	End	E-Value	Type
low complexity region	3	44	N/A	INTRINSIC
NEUZ	47	165	1.02e-28	SMART
low complexity region	207	237	N/A	INTRINSIC
NEUZ	317	442	7.22e-52	SMART
low complexity region	492	503	N/A	INTRINSIC
NEUZ	520	644	6.15e-46	SMART
low complexity region	686	700	N/A	INTRINSIC
NEUZ	716	840	7.81e-39	SMART
NEUZ	911	1041	2.27e-17	SMART
low complexity region	1106	1115	N/A	INTRINSIC
NEUZ	1128	1248	4.93e-6	SMART
low complexity region	1451	1462	N/A	INTRINSIC
low complexity region	1472	1481	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144431

SMART Domains

Protein: ENSMUSP00000135926
Gene: ENSMUSG00000018570

Domain	Start	End	E-Value	Type
low complexity region	86	108	N/A	INTRINSIC
low complexity region	115	127	N/A	INTRINSIC
low complexity region	132	144	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,912,359 (GRCm39)	G29S	probably damaging	Het
Acsm2	G	A	7: 119,190,470 (GRCm39)		probably null	Het
Adgrl1	A	G	8: 84,645,616 (GRCm39)	N80D	probably damaging	Het
Ankrd34a	T	A	3: 96,505,274 (GRCm39)	Y159*	probably null	Het
Bcl2l2	G	A	14: 55,122,202 (GRCm39)	V122M	possibly damaging	Het
Brms1l	A	G	12: 55,914,970 (GRCm39)	H293R	probably benign	Het
Ccn1	T	C	3: 145,354,986 (GRCm39)	I90V	possibly damaging	Het
Clec4b1	A	G	6: 123,045,461 (GRCm39)	T94A	possibly damaging	Het
Crim1	A	G	17: 78,588,738 (GRCm39)	D271G	probably benign	Het
Csmd2	G	A	4: 128,387,127 (GRCm39)	G2141S	possibly damaging	Het
Cspg4b	T	A	13: 113,505,340 (GRCm39)	Y2156*	probably null	Het
Ctnnal1	C	A	4: 56,829,573 (GRCm39)	A419S	possibly damaging	Het
Cyp27a1	G	A	1: 74,774,851 (GRCm39)	R264H	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dsc2	T	A	18: 20,178,487 (GRCm39)	T306S	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ermp1	A	T	19: 29,600,609 (GRCm39)	Y586N	possibly damaging	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm5114	C	T	7: 39,058,024 (GRCm39)	A532T	possibly damaging	Het
Gm5431	A	G	11: 48,780,418 (GRCm39)	L168P	probably damaging	Het
Hao2	T	C	3: 98,787,842 (GRCm39)	T196A	probably benign	Het
Hdac9	A	C	12: 34,337,474 (GRCm39)	L669R	probably damaging	Het
Hps5	A	G	7: 46,421,198 (GRCm39)	V755A	probably benign	Het
Jag2	G	T	12: 112,883,969 (GRCm39)	Y203*	probably null	Het
Lrrn3	G	A	12: 41,503,787 (GRCm39)	Q177*	probably null	Het
Me1	A	T	9: 86,533,009 (GRCm39)	V151E	probably damaging	Het
Mkx	A	G	18: 6,992,888 (GRCm39)	V132A	probably damaging	Het
Mycbp2	A	G	14: 103,522,836 (GRCm39)	S643P	probably benign	Het
Mysm1	C	A	4: 94,856,192 (GRCm39)	R135L	probably damaging	Het
Nup210l	T	C	3: 90,011,483 (GRCm39)	F4L	probably benign	Het
Pappa2	A	T	1: 158,542,567 (GRCm39)	C1773*	probably null	Het
Pcbp3	T	C	10: 76,599,182 (GRCm39)	E318G	probably damaging	Het
Pcdh12	T	C	18: 38,410,912 (GRCm39)	K984E	probably damaging	Het
Pcna-ps2	A	G	19: 9,261,379 (GRCm39)	N213D	possibly damaging	Het
Pde8b	G	A	13: 95,178,467 (GRCm39)	A509V	probably damaging	Het
Peg10	GAT	GATCAT	6: 4,756,449 (GRCm39)		probably benign	Het
Phf7	A	G	14: 30,962,820 (GRCm39)	Y137H	probably damaging	Het
Pkd1l1	A	G	11: 8,818,543 (GRCm39)	V1315A	probably benign	Het
Plxnd1	A	G	6: 115,955,135 (GRCm39)	C571R	probably damaging	Het
Ppp1r12b	C	T	1: 134,819,990 (GRCm39)	W251*	probably null	Het
Prps1l1	A	G	12: 35,035,329 (GRCm39)	E148G	probably damaging	Het
Robo1	A	T	16: 72,809,956 (GRCm39)	M1235L	probably benign	Het
Robo3	A	G	9: 37,334,589 (GRCm39)	Y592H	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Rufy1	A	T	11: 50,308,075 (GRCm39)	L259Q	probably damaging	Het
Rusc2	T	C	4: 43,424,271 (GRCm39)	F1112S	probably damaging	Het
Sap130	T	C	18: 31,815,144 (GRCm39)	V622A	possibly damaging	Het
Sptbn4	C	A	7: 27,059,513 (GRCm39)	C1124F	probably damaging	Het
Stk10	T	A	11: 32,565,871 (GRCm39)	C872S	probably damaging	Het
Tex15	A	T	8: 34,064,158 (GRCm39)	N1196I	possibly damaging	Het
Tnxa	A	G	17: 35,019,262 (GRCm39)		probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zscan4b	T	A	7: 10,635,815 (GRCm39)	T171S	probably benign	Het

Other mutations in 2810408A11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0180:2810408A11Rik	UTSW	11	69,789,702 (GRCm39)	missense	probably benign	0.37
R1774:2810408A11Rik	UTSW	11	69,791,453 (GRCm39)	missense	probably damaging	0.98
R2034:2810408A11Rik	UTSW	11	69,791,385 (GRCm39)	missense	probably benign	0.00
R2085:2810408A11Rik	UTSW	11	69,791,198 (GRCm39)	missense	possibly damaging	0.92
R3016:2810408A11Rik	UTSW	11	69,790,048 (GRCm39)	missense	probably benign	0.00
R4580:2810408A11Rik	UTSW	11	69,791,237 (GRCm39)	missense	probably damaging	1.00
R4831:2810408A11Rik	UTSW	11	69,791,403 (GRCm39)	missense	possibly damaging	0.46
R5868:2810408A11Rik	UTSW	11	69,788,401 (GRCm39)	missense	possibly damaging	0.92
R7841:2810408A11Rik	UTSW	11	69,790,112 (GRCm39)	missense	probably benign	0.01
R8726:2810408A11Rik	UTSW	11	69,789,207 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- ACGCTTCCAACAGTACCTGG -3'
(R):5'- TCTAATCCGGTAGTGGCCTGAC -3'

Sequencing Primer
(F):5'- AACAGTACCTGGAGTGCCTTTCG -3'
(R):5'- CGGTAGTGGCCTGACTCAAAG -3'

Posted On

2017-10-10