Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02231:2610507B11Rik'

285684

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2610507B11Rik

Ensembl Gene

ENSMUSG00000010277

Gene Name

RIKEN cDNA 2610507B11 gene

Synonyms

D11Bhm178e, D11Bhm179e, E1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

IGL02231

Quality Score

Status

Chromosome

Chromosomal Location

78261752-78290623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 78279896 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 1647 (G1647D)

Ref Sequence

ENSEMBL: ENSMUSP00000010421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010421]

AlphaFold

Q5SYL3

Predicted Effect

probably benign
Transcript: ENSMUST00000010421
AA Change: G1647D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: G1647D

Domain	Start	End	E-Value	Type
low complexity region	3	21	N/A	INTRINSIC
Pfam:Fmp27	26	475	1.6e-45	PFAM
Pfam:Fmp27	446	674	3.2e-24	PFAM
low complexity region	719	734	N/A	INTRINSIC
low complexity region	785	798	N/A	INTRINSIC
low complexity region	859	872	N/A	INTRINSIC
Fmp27_GFWDK	1028	1160	3.01e-61	SMART
low complexity region	1415	1421	N/A	INTRINSIC
low complexity region	1690	1701	N/A	INTRINSIC
Pfam:Apt1	1703	2176	2.4e-112	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127017

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alcam	T	A	16: 52,274,050		probably benign	Het
Alox15	A	C	11: 70,349,556	D266E	probably benign	Het
Atcay	A	T	10: 81,210,548	V314E	probably damaging	Het
Atp8b1	C	T	18: 64,550,384	G758R	possibly damaging	Het
Cacna2d4	T	A	6: 119,277,908		probably benign	Het
Celsr3	T	C	9: 108,842,510	V2429A	probably damaging	Het
Clspn	T	G	4: 126,559,228	D11E	probably damaging	Het
Cnot3	A	G	7: 3,658,210	T573A	probably benign	Het
Cyp2d34	A	T	15: 82,618,606	S140T	probably benign	Het
Edem1	A	G	6: 108,828,888	D50G	probably benign	Het
Emilin3	G	A	2: 160,908,515	T438I	probably damaging	Het
Etfdh	C	T	3: 79,618,393	V173I	probably damaging	Het
Fat2	T	C	11: 55,281,092	T2932A	probably damaging	Het
Fcrl1	G	A	3: 87,385,162	E154K	possibly damaging	Het
Fcrl1	A	T	3: 87,385,163	E154V	probably damaging	Het
G3bp1	T	A	11: 55,495,447	L244*	probably null	Het
Itgae	A	T	11: 73,090,622	K2M	possibly damaging	Het
Kcnq2	T	C	2: 181,081,715	I654V	probably benign	Het
Ksr2	C	T	5: 117,500,776	R82C	probably damaging	Het
Lrig3	A	T	10: 125,997,172	D305V	probably damaging	Het
Me1	T	C	9: 86,611,855	K322E	possibly damaging	Het
Med12l	T	A	3: 59,245,882	D1109E	probably damaging	Het
Mest	A	G	6: 30,740,773	K73E	possibly damaging	Het
Nup155	T	G	15: 8,144,064	L881R	probably damaging	Het
Ocln	A	T	13: 100,541,114	S2T	probably damaging	Het
Oosp3	T	C	19: 11,699,439	L54S	probably damaging	Het
Pkp3	G	A	7: 141,084,238	E443K	probably damaging	Het
Plk2	T	A	13: 110,400,069	C632S	probably benign	Het
Ptk6	C	T	2: 181,197,001	V320I	probably damaging	Het
Ptprt	A	T	2: 162,238,060	I273N	probably damaging	Het
Ptprt	A	G	2: 162,278,046		probably null	Het
Rab3gap2	T	C	1: 185,266,898		probably benign	Het
Rabgef1	G	A	5: 130,211,975	A312T	probably damaging	Het
Rabl6	T	A	2: 25,598,184	K109N	probably benign	Het
Rbp7	C	T	4: 149,454,877		probably null	Het
Reg3a	C	T	6: 78,382,241	H75Y	possibly damaging	Het
Rnf123	G	T	9: 108,066,399	P546T	probably benign	Het
Rnmt	C	A	18: 68,314,081	C345*	probably null	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Slc14a2	C	T	18: 78,209,021	S25N	possibly damaging	Het
Spata16	G	T	3: 26,913,264	G388W	probably damaging	Het
Speg	C	T	1: 75,423,387	R2493W	probably damaging	Het
Thada	T	A	17: 84,428,697	D970V	probably damaging	Het
Tmem184c	A	G	8: 77,604,812	Y103H	probably damaging	Het
Ttn	A	T	2: 76,798,096	D12827E	probably damaging	Het
Utp20	A	G	10: 88,791,168	L976S	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het
Zfp936	T	A	7: 43,187,485		probably null	Het

Other mutations in 2610507B11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:2610507B11Rik	APN	11	78269574	missense	possibly damaging	0.55
IGL00497:2610507B11Rik	APN	11	78272933	missense	probably damaging	1.00
IGL00797:2610507B11Rik	APN	11	78273150	missense	probably benign	0.07
IGL01695:2610507B11Rik	APN	11	78265193	missense	probably benign	0.03
IGL02055:2610507B11Rik	APN	11	78286631	missense	probably damaging	1.00
IGL02066:2610507B11Rik	APN	11	78273232	missense	probably damaging	1.00
IGL02282:2610507B11Rik	APN	11	78284228	missense	probably benign	0.22
IGL02293:2610507B11Rik	APN	11	78271910	missense	probably damaging	1.00
IGL02336:2610507B11Rik	APN	11	78289032	missense	probably damaging	1.00
IGL02528:2610507B11Rik	APN	11	78271976	missense	possibly damaging	0.93
IGL03231:2610507B11Rik	APN	11	78268702	missense	probably benign	0.02
R0003:2610507B11Rik	UTSW	11	78286578	missense	possibly damaging	0.66
R0197:2610507B11Rik	UTSW	11	78269704	unclassified	probably benign
R0244:2610507B11Rik	UTSW	11	78286491	splice site	probably null
R0281:2610507B11Rik	UTSW	11	78271924	missense	possibly damaging	0.88
R0396:2610507B11Rik	UTSW	11	78268377	missense	possibly damaging	0.93
R0624:2610507B11Rik	UTSW	11	78268457	missense	probably damaging	1.00
R0666:2610507B11Rik	UTSW	11	78287987	missense	probably damaging	1.00
R0666:2610507B11Rik	UTSW	11	78277212	nonsense	probably null
R1313:2610507B11Rik	UTSW	11	78265672	missense	probably benign	0.02
R1313:2610507B11Rik	UTSW	11	78265672	missense	probably benign	0.02
R1443:2610507B11Rik	UTSW	11	78262798	missense	probably damaging	1.00
R1485:2610507B11Rik	UTSW	11	78285580	missense	probably damaging	1.00
R1500:2610507B11Rik	UTSW	11	78284132	missense	possibly damaging	0.46
R1537:2610507B11Rik	UTSW	11	78289343	missense	probably damaging	1.00
R1543:2610507B11Rik	UTSW	11	78275174	missense	probably benign	0.44
R1702:2610507B11Rik	UTSW	11	78289028	missense	probably damaging	1.00
R1804:2610507B11Rik	UTSW	11	78273469	missense	probably damaging	1.00
R1835:2610507B11Rik	UTSW	11	78287750	missense	probably damaging	0.97
R1852:2610507B11Rik	UTSW	11	78268473	missense	probably damaging	1.00
R1861:2610507B11Rik	UTSW	11	78287929	unclassified	probably benign
R1986:2610507B11Rik	UTSW	11	78274612	missense	probably damaging	1.00
R1987:2610507B11Rik	UTSW	11	78268167	missense	probably damaging	1.00
R2061:2610507B11Rik	UTSW	11	78268749	nonsense	probably null
R2113:2610507B11Rik	UTSW	11	78268772	missense	probably benign	0.02
R3692:2610507B11Rik	UTSW	11	78269509	missense	probably damaging	1.00
R3788:2610507B11Rik	UTSW	11	78288297	critical splice donor site	probably null
R3835:2610507B11Rik	UTSW	11	78279085	missense	probably benign	0.17
R3882:2610507B11Rik	UTSW	11	78262700	missense	probably damaging	1.00
R3943:2610507B11Rik	UTSW	11	78269524	nonsense	probably null
R3944:2610507B11Rik	UTSW	11	78269524	nonsense	probably null
R3945:2610507B11Rik	UTSW	11	78289964	missense	probably damaging	1.00
R4196:2610507B11Rik	UTSW	11	78263556	intron	probably benign
R4510:2610507B11Rik	UTSW	11	78277328	missense	possibly damaging	0.59
R4511:2610507B11Rik	UTSW	11	78277328	missense	possibly damaging	0.59
R4756:2610507B11Rik	UTSW	11	78264028	missense	probably damaging	0.98
R5337:2610507B11Rik	UTSW	11	78265208	missense	possibly damaging	0.46
R5419:2610507B11Rik	UTSW	11	78272090	nonsense	probably null
R5572:2610507B11Rik	UTSW	11	78264567	missense	probably damaging	0.98
R5719:2610507B11Rik	UTSW	11	78273245	missense	probably damaging	0.97
R5754:2610507B11Rik	UTSW	11	78269541	missense	probably damaging	1.00
R5890:2610507B11Rik	UTSW	11	78273270	nonsense	probably null
R5919:2610507B11Rik	UTSW	11	78289350	missense	probably damaging	1.00
R5925:2610507B11Rik	UTSW	11	78284238	missense	probably benign	0.06
R5976:2610507B11Rik	UTSW	11	78284129	missense	probably benign	0.00
R5999:2610507B11Rik	UTSW	11	78285468	missense	probably damaging	1.00
R6056:2610507B11Rik	UTSW	11	78271384	missense	possibly damaging	0.77
R6180:2610507B11Rik	UTSW	11	78273258	missense	possibly damaging	0.51
R6484:2610507B11Rik	UTSW	11	78279095	missense	probably damaging	1.00
R6721:2610507B11Rik	UTSW	11	78279799	missense	probably damaging	1.00
R6800:2610507B11Rik	UTSW	11	78288279	missense	probably benign	0.13
R6911:2610507B11Rik	UTSW	11	78268353	missense	probably damaging	0.99
R6923:2610507B11Rik	UTSW	11	78274626	missense	possibly damaging	0.67
R7283:2610507B11Rik	UTSW	11	78274828	missense	probably damaging	1.00
R7287:2610507B11Rik	UTSW	11	78272883	missense	possibly damaging	0.61
R7339:2610507B11Rik	UTSW	11	78272384	critical splice donor site	probably null
R7409:2610507B11Rik	UTSW	11	78268757	missense	probably damaging	1.00
R7473:2610507B11Rik	UTSW	11	78267115	missense	possibly damaging	0.86
R7704:2610507B11Rik	UTSW	11	78268744	missense	probably benign	0.29
R7793:2610507B11Rik	UTSW	11	78273205	missense	possibly damaging	0.56
R8051:2610507B11Rik	UTSW	11	78273412	intron	probably benign
R8186:2610507B11Rik	UTSW	11	78286631	missense	probably damaging	1.00
R8256:2610507B11Rik	UTSW	11	78277153	missense	probably benign	0.00
R8518:2610507B11Rik	UTSW	11	78265238	missense	possibly damaging	0.95
R8677:2610507B11Rik	UTSW	11	78284156	missense	probably damaging	1.00
R8736:2610507B11Rik	UTSW	11	78288049	missense	probably benign	0.26
R8829:2610507B11Rik	UTSW	11	78267238	missense	probably benign	0.02
R8832:2610507B11Rik	UTSW	11	78267238	missense	probably benign	0.02
R9006:2610507B11Rik	UTSW	11	78273519	missense	possibly damaging	0.90
R9014:2610507B11Rik	UTSW	11	78269662	missense	possibly damaging	0.78
R9184:2610507B11Rik	UTSW	11	78271388	missense	probably damaging	1.00
R9473:2610507B11Rik	UTSW	11	78284157	missense	probably damaging	1.00
X0028:2610507B11Rik	UTSW	11	78286635	missense	probably damaging	0.99

Posted On

2015-04-16