Mutagenetix > Incidental Mutation

Incidental Mutation 'R7283:2610507B11Rik'

565813

Institutional Source

Beutler Lab

Gene Symbol

2610507B11Rik

Ensembl Gene

ENSMUSG00000010277

Gene Name

RIKEN cDNA 2610507B11 gene

Synonyms

D11Bhm178e, D11Bhm179e, E1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7283 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78261752-78290623 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78274828 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 1346 (Q1346R)

Ref Sequence

ENSEMBL: ENSMUSP00000010421 (fasta)

Gene Model

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

AlphaFold

Q5SYL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000010421
AA Change: Q1346R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000010421
Gene: ENSMUSG00000010277
AA Change: Q1346R

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: ENSMUST00000145145

SMART Domains

Protein: ENSMUSP00000119105
Gene: ENSMUSG00000010277

Domain	Start	End	E-Value	Type
Pfam:Fmp27_GFWDK	1	52	1.2e-20	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,552,691	V278A	probably benign	Het
4932415D10Rik	G	A	10: 82,291,297	R1960W	possibly damaging	Het
Abcc3	C	T	11: 94,357,047	A1207T	probably benign	Het
Abce1	C	A	8: 79,685,256	G592*	probably null	Het
Acad10	A	C	5: 121,649,475	V137G	possibly damaging	Het
Adcy3	A	G	12: 4,203,563	I672V	not run	Het
Adgrb1	A	T	15: 74,580,663	Q1166L	possibly damaging	Het
Ankrd44	A	T	1: 54,729,796	N465K	probably damaging	Het
Avpr1b	A	G	1: 131,609,731	T418A	probably benign	Het
Azin1	G	A	15: 38,501,408	T33I	probably damaging	Het
Bicra	T	C	7: 15,972,500	T1339A	probably damaging	Het
Cacna1s	A	G	1: 136,073,708	Y299C	probably damaging	Het
Clip1	A	C	5: 123,613,794	C641W		Het
Clip3	T	C	7: 30,305,812	S524P	probably damaging	Het
Cnpy4	A	T	5: 138,192,882	H240L	probably benign	Het
Cyp2b19	T	C	7: 26,766,914	Y381H	probably damaging	Het
Cyp3a13	T	A	5: 137,905,556	N280I	probably benign	Het
Diaph3	A	G	14: 86,866,584	F788S	probably damaging	Het
Drc7	A	G	8: 95,071,579	N484S	probably damaging	Het
Erap1	G	A	13: 74,673,784		probably null	Het
Fat4	A	T	3: 38,889,693	I912F	probably damaging	Het
Hsd3b3	T	A	3: 98,742,357	K217*	probably null	Het
Igkv12-89	A	G	6: 68,835,077	V36A	probably damaging	Het
Invs	T	A	4: 48,392,526		probably null	Het
Ipo8	T	A	6: 148,824,481	Y30F	possibly damaging	Het
Kctd14	T	C	7: 97,451,486	M1T	probably null	Het
Klrb1c	A	T	6: 128,784,257	C136S	probably benign	Het
Morn2	A	G	17: 80,297,259	E48G	probably damaging	Het
Myh1	A	T	11: 67,201,844		probably null	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nfxl1	A	G	5: 72,529,050	S603P	probably benign	Het
Nlrc3	G	A	16: 3,947,877	A351V	probably benign	Het
Nlrp4f	G	A	13: 65,195,538	R76*	probably null	Het
Olfr190	A	T	16: 59,074,192	M296K	probably benign	Het
Olfr228	A	T	2: 86,483,139	I201N	probably damaging	Het
Olfr397	T	C	11: 73,964,808	S67P	probably damaging	Het
Olfr664	G	T	7: 104,733,593	T257K	probably damaging	Het
Olfr872	A	C	9: 20,260,259	I140L	probably damaging	Het
Papolg	A	G	11: 23,867,394	V601A	not run	Het
Pde4dip	T	C	3: 97,758,882	T349A	probably benign	Het
Pdlim5	T	C	3: 142,311,980		probably null	Het
Pkhd1l1	A	G	15: 44,503,280	N718S	probably benign	Het
Plcxd3	A	G	15: 4,516,919	H135R	probably damaging	Het
Plxna2	A	T	1: 194,644,883	Y375F	probably damaging	Het
Prkca	C	T	11: 108,340,645		probably null	Het
Prkdc	A	G	16: 15,717,764	S1663G	probably benign	Het
Ptbp3	T	C	4: 59,514,384	T80A	probably benign	Het
Ptpn4	C	T	1: 119,682,531	V696I	possibly damaging	Het
Pygl	A	T	12: 70,216,568	W175R	possibly damaging	Het
Rftn1	A	G	17: 50,047,441	Y298H	probably damaging	Het
Rit2	A	G	18: 31,316,839		probably null	Het
Runx1t1	G	A	4: 13,846,935	G240R	probably damaging	Het
Scn10a	A	G	9: 119,664,779		probably null	Het
Serpina16	A	C	12: 103,672,432		probably null	Het
Slc17a3	A	T	13: 23,855,848	M290L		Het
Slc6a4	A	T	11: 77,010,696	M86L	probably benign	Het
Spag7	A	T	11: 70,665,313	V46E	probably benign	Het
Sptlc1	T	C	13: 53,344,878	I271V	probably benign	Het
Stk17b	A	C	1: 53,757,515	H364Q	probably benign	Het
Strc	T	C	2: 121,379,452	H130R	probably damaging	Het
Stxbp1	T	A	2: 32,815,014	D148V	probably damaging	Het
Tirap	G	A	9: 35,188,929	P153L	probably damaging	Het
Tmco3	G	A	8: 13,319,605		probably null	Het
Tmem51	T	A	4: 142,031,783	D218V	probably damaging	Het
Trim40	A	T	17: 36,882,662	D218E	probably benign	Het
Ttc21b	T	C	2: 66,208,718	D934G	probably damaging	Het
Vmn2r26	T	C	6: 124,025,955	L108P	probably damaging	Het
Washc2	C	A	6: 116,227,418	P429Q	probably damaging	Het
Wipi1	A	G	11: 109,611,311	M1T	probably null	Het
Zfp438	A	G	18: 5,214,712	V82A	probably damaging	Het
Zfp853	G	C	5: 143,287,738	A724G	unknown	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
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
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'- TCCCCAGCTACAGGTTAGACTC -3'
(R):5'- TCCACTCAGAAATAAGGCGC -3'

Sequencing Primer
(F):5'- GCTACAGGTTAGACTCAGCATC -3'
(R):5'- ATAAGGCGCCGCATCACTG -3'

Posted On

2019-06-26