Mutagenetix > Incidental Mutation

Incidental Mutation 'R1835:2610507B11Rik'

205197

Institutional Source

Beutler Lab

Gene Symbol

2610507B11Rik

Ensembl Gene

ENSMUSG00000010277

Gene Name

RIKEN cDNA 2610507B11 gene

Synonyms

D11Bhm178e, D11Bhm179e, E1

MMRRC Submission

039862-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R1835 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78261752-78290623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78287750 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 1993 (V1993F)

Ref Sequence

ENSEMBL: ENSMUSP00000010421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010421] [ENSMUST00000046361]

AlphaFold

Q5SYL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000010421
AA Change: V1993F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: V1993F

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

probably benign
Transcript: ENSMUST00000046361

SMART Domains

Protein: ENSMUSP00000038139
Gene: ENSMUSG00000037593

Domain	Start	End	E-Value	Type
low complexity region	57	73	N/A	INTRINSIC
Pfam:Pkinase	99	268	1.7e-39	PFAM
Pfam:Pkinase_Tyr	100	262	7.8e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126928

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130947

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147549

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933425L06Rik	C	A	13: 105,082,194	A12E	unknown	Het
Acss2	T	A	2: 155,558,630	Y530N	probably damaging	Het
Adam4	T	C	12: 81,419,559	I763V	probably benign	Het
Aipl1	T	G	11: 72,030,499	K190T	possibly damaging	Het
Alms1	T	A	6: 85,678,503	S3344T	possibly damaging	Het
Alpi	A	G	1: 87,099,414	V381A	possibly damaging	Het
Ankfn1	A	T	11: 89,447,618	S365R	probably benign	Het
Aox2	G	A	1: 58,308,991	A623T	probably benign	Het
Apc	T	A	18: 34,317,077	L2308Q	probably damaging	Het
Atp9b	C	T	18: 80,778,883	V501I	probably benign	Het
Baz2b	T	C	2: 59,901,819	E1994G	probably benign	Het
Cacna1a	T	C	8: 84,581,357		probably null	Het
Cacna1h	C	A	17: 25,392,076	V583L	probably benign	Het
Cd55	T	C	1: 130,447,609		probably benign	Het
Cep192	T	A	18: 67,804,424	S75T	possibly damaging	Het
Cfap54	T	A	10: 92,962,375	D1674V	probably benign	Het
Churc1	T	C	12: 76,773,297	F27L	possibly damaging	Het
Coro1c	A	G	5: 113,848,543	I280T	probably benign	Het
Creb1	C	T	1: 64,550,950	Q32*	probably null	Het
Cyp2b9	A	G	7: 26,200,783	T339A	probably benign	Het
Dctn3	T	C	4: 41,720,813	R51G	probably damaging	Het
Ddb1	T	C	19: 10,626,593	V888A	probably damaging	Het
Disp1	A	G	1: 183,089,000	Y619H	probably damaging	Het
Dnajc9	T	C	14: 20,388,334	D96G	possibly damaging	Het
Eepd1	A	G	9: 25,482,868	T143A	possibly damaging	Het
Eps8	T	A	6: 137,522,279	K204*	probably null	Het
Ercc5	T	A	1: 44,180,875	S1102R	probably benign	Het
Ergic2	T	A	6: 148,189,581	Y211F	possibly damaging	Het
Fam135b	G	T	15: 71,490,711	L274M	probably damaging	Het
Fat3	G	A	9: 15,998,088	T2206I	probably damaging	Het
Fat4	A	G	3: 38,983,571	I3791V	probably benign	Het
Gemin4	A	G	11: 76,213,296	M213T	possibly damaging	Het
Gnai3	T	C	3: 108,118,407	M119V	probably benign	Het
Heatr5b	A	T	17: 78,773,563	L1420Q	probably damaging	Het
Herc2	G	T	7: 56,206,765	G3918*	probably null	Het
Ints9	A	G	14: 65,032,256	Y465C	probably damaging	Het
Ist1	A	G	8: 109,678,883	V175A	probably damaging	Het
Kcnj12	T	C	11: 61,069,557	L227P	possibly damaging	Het
Kcnq5	T	C	1: 21,466,387	S416G	probably benign	Het
Kdm3a	T	A	6: 71,613,956	T295S	probably benign	Het
Kif1c	T	A	11: 70,708,971	M479K	probably damaging	Het
Kif20b	T	C	19: 34,956,038	L83P	probably damaging	Het
Kndc1	A	G	7: 139,927,711	E1194G	probably damaging	Het
Llgl1	A	G	11: 60,704,730	M81V	probably benign	Het
Map4k5	C	A	12: 69,824,662	M495I	probably damaging	Het
Mest	C	T	6: 30,742,791	R146C	probably benign	Het
Mettl24	T	A	10: 40,737,816		probably null	Het
Mical1	T	C	10: 41,483,535	S586P	probably benign	Het
Mrgpra3	G	T	7: 47,589,946	Y77*	probably null	Het
Mss51	A	T	14: 20,483,178	C408*	probably null	Het
Myh6	T	C	14: 54,957,401	T666A	probably benign	Het
Myo10	T	C	15: 25,805,587	C1685R	possibly damaging	Het
Naip5	A	T	13: 100,223,218	Y503*	probably null	Het
Neil1	A	C	9: 57,146,604	F144C	probably damaging	Het
Nipbl	T	A	15: 8,343,517	I1082F	possibly damaging	Het
Nkiras1	T	C	14: 18,276,732	V7A	probably damaging	Het
Ntng2	G	A	2: 29,197,057	Q384*	probably null	Het
Ocrl	T	A	X: 47,962,116	I74N	probably damaging	Het
Olfr137	A	T	17: 38,305,312	S50T	probably benign	Het
Olfr1385	A	T	11: 49,494,670	I46F	probably damaging	Het
Olfr1408	A	G	1: 173,130,815	V134A	probably benign	Het
Olfr381	A	C	11: 73,486,374	V150G	probably benign	Het
Olfr535	A	G	7: 140,492,709	S24G	probably benign	Het
Olfr761	C	T	17: 37,952,385	G213E	possibly damaging	Het
Patj	A	G	4: 98,491,590	D151G	probably benign	Het
Plpbp	T	C	8: 27,049,231	V126A	probably damaging	Het
Pold2	A	G	11: 5,873,454	L325P	possibly damaging	Het
Ppp1r12c	A	C	7: 4,483,651	S480A	probably damaging	Het
Pum1	T	C	4: 130,701,048	S124P	possibly damaging	Het
Pwp2	C	G	10: 78,179,091	G353A	probably damaging	Het
Reln	C	A	5: 21,979,002	Q1666H	probably damaging	Het
Rnf19a	T	C	15: 36,265,925	I9V	probably benign	Het
Ryr2	T	C	13: 11,769,878	H1063R	probably benign	Het
Samd14	C	G	11: 95,023,600	D361E	probably damaging	Het
Samd15	A	T	12: 87,201,843	N365I	probably damaging	Het
Sec16b	A	G	1: 157,531,312	H105R	probably benign	Het
Sez6	T	C	11: 77,953,503	S51P	probably benign	Het
Sh3bp1	T	A	15: 78,905,150	L236Q	probably damaging	Het
Sspo	C	T	6: 48,457,340	T991I	probably damaging	Het
Suco	A	T	1: 161,859,500	L97*	probably null	Het
Tab1	C	A	15: 80,148,296	R35S	probably benign	Het
Tet3	C	A	6: 83,404,163	S341I	possibly damaging	Het
Tlr1	A	T	5: 64,925,700	D511E	probably benign	Het
Tmem132b	A	C	5: 125,785,899	D656A	probably damaging	Het
Tmtc4	T	A	14: 122,941,988		probably null	Het
Trmo	T	C	4: 46,380,158	T404A	probably damaging	Het
Trpm1	A	G	7: 64,230,268	K790E	probably damaging	Het
Ulk4	C	A	9: 121,168,184	R774M	probably null	Het
Ush2a	C	T	1: 188,451,818	L1440F	probably benign	Het
Usp16	A	G	16: 87,480,907	K682E	probably damaging	Het
Virma	T	C	4: 11,540,511	S1471P	probably benign	Het
Vmn1r177	A	T	7: 23,865,686	I255N	probably damaging	Het
Vmn2r61	A	T	7: 42,266,652	R230*	probably null	Het
Vps13c	T	A	9: 67,993,013	F3671L	probably benign	Het
Washc5	T	C	15: 59,359,340	N358S	possibly damaging	Het
Wdr72	A	G	9: 74,151,617	K331E	probably damaging	Het
Zfp986	A	T	4: 145,899,235	K155I	probably benign	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
IGL02231:2610507B11Rik	APN	11	78279896	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCTTGCCTAGCTTAGCAAAGAC -3'
(R):5'- TGAGAGGCACCACATTTACC -3'

Sequencing Primer
(F):5'- GCCTAGCTTAGCAAAGACCGTTG -3'
(R):5'- GGCACCACATTTACCTGAGAGG -3'

Posted On

2014-06-23