Mutagenetix > Incidental Mutation

Incidental Mutation 'R6925:5430419D17Rik'

541090

Institutional Source

Beutler Lab

Gene Symbol

5430419D17Rik

Ensembl Gene

ENSMUSG00000006204

Gene Name

RIKEN cDNA 5430419D17 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6925 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131174402-131306451 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 131222707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 177 (Q177R)

Ref Sequence

ENSEMBL: ENSMUSP00000150784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050586] [ENSMUST00000124096] [ENSMUST00000208921]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000050586
AA Change: Q177R

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204
AA Change: Q177R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	85	105	N/A	INTRINSIC
SR	144	244	3.3e-57	SMART
CUB	272	378	1.2e-16	SMART
SR	428	528	3.9e-56	SMART
low complexity region	533	548	N/A	INTRINSIC
CUB	556	667	5.1e-38	SMART
SR	680	780	1.5e-57	SMART
Pfam:CUB	795	840	3.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208921
AA Change: Q177R

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (91/91)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	T	9: 53,592,029	V170E	probably benign	Het
Atp2b2	T	A	6: 113,760,720	I902F	probably damaging	Het
Cacna1d	A	G	14: 30,051,637	V1697A	probably benign	Het
Ccdc14	T	A	16: 34,690,749	F31Y	probably benign	Het
Ccdc17	T	A	4: 116,598,210	V250E	probably damaging	Het
Cct7	A	G	6: 85,459,182	N25S	probably damaging	Het
Cep19	G	C	16: 32,103,942	G9R	probably damaging	Het
Ces5a	A	T	8: 93,523,057		probably null	Het
Chd1l	T	G	3: 97,582,826	E471A	probably damaging	Het
Chd6	A	G	2: 161,013,127	I787T	probably damaging	Het
Cntnap5c	A	C	17: 58,395,266	T1194P	probably benign	Het
Col6a3	T	A	1: 90,816,002	M208L	probably benign	Het
Coro7	A	T	16: 4,628,674		probably null	Het
Csrnp2	T	C	15: 100,481,958	K484R	probably benign	Het
Cyp2c39	T	A	19: 39,513,195	V64E	probably damaging	Het
Ddr2	T	C	1: 169,998,132	K300E	probably benign	Het
Ddx56	T	C	11: 6,263,980	E393G	probably damaging	Het
Diaph1	A	C	18: 37,853,679	Y1084*	probably null	Het
Disp1	A	T	1: 183,086,478	F1459L	probably benign	Het
Dnajc8	G	A	4: 132,544,113	A80T	probably damaging	Het
Elfn1	T	A	5: 139,971,685	M148K	probably benign	Het
Emcn	T	A	3: 137,419,002	I154N	probably damaging	Het
Enah	C	G	1: 181,905,898		probably null	Het
Enah	T	A	1: 181,905,899		probably null	Het
Ep300	C	A	15: 81,649,981	Q2080K	probably benign	Het
Epha2	T	A	4: 141,308,757	M168K	probably benign	Het
Ercc6	T	A	14: 32,562,608	I776N	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fat4	G	T	3: 38,996,204		probably null	Het
G3bp1	A	G	11: 55,497,960	R333G	possibly damaging	Het
Gm3604	A	G	13: 62,369,390	F385L	probably benign	Het
Gm5800	T	C	14: 51,713,700	I147M	possibly damaging	Het
Hipk1	A	G	3: 103,778,245	F18S	unknown	Het
Ighv3-8	A	T	12: 114,322,330	C131S	probably benign	Het
Il23r	T	G	6: 67,423,493	T618P	probably damaging	Het
Il31ra	G	A	13: 112,527,529	T538I	possibly damaging	Het
Kcns2	A	G	15: 34,839,913	D474G	unknown	Het
Klc4	T	C	17: 46,636,229	T407A	possibly damaging	Het
Klra5	C	T	6: 129,911,457	S2N	probably benign	Het
Krt10	T	C	11: 99,388,851	Y161C	probably damaging	Het
Kxd1	A	T	8: 70,523,278	M1K	probably null	Het
Lgals1	A	C	15: 78,928,040	D27A	possibly damaging	Het
Lgr5	T	C	10: 115,466,346	S308G	probably benign	Het
Lrp1	G	A	10: 127,556,988	S2736L	probably benign	Het
Lrpap1	G	T	5: 35,102,536	H73N	probably benign	Het
Mcpt1	C	A	14: 56,019,065	T86K	probably damaging	Het
Megf6	A	T	4: 154,254,587	D527V	probably damaging	Het
Mical3	A	T	6: 120,959,390	S1392T	probably benign	Het
Mmp2	A	T	8: 92,839,382	D437V	probably damaging	Het
Mob4	T	A	1: 55,152,722	Y166*	probably null	Het
Mrap2	G	A	9: 87,182,474	M89I	possibly damaging	Het
Mug1	G	A	6: 121,881,787	A1155T	probably damaging	Het
Myh2	G	T	11: 67,193,218	A1556S	probably benign	Het
Nfatc3	A	G	8: 106,119,322	D1028G	probably benign	Het
Ngef	T	G	1: 87,503,263		probably null	Het
Nlrp1a	A	T	11: 71,092,513	L1209Q	probably null	Het
Npr2	C	T	4: 43,647,553	R819C	probably damaging	Het
Nsd2	A	T	5: 33,879,110	D646V	probably damaging	Het
Nsun7	A	G	5: 66,277,072	H252R	probably damaging	Het
Olfr267	A	T	4: 58,785,647	I25N	possibly damaging	Het
Olfr447	T	A	6: 42,911,857	C111*	probably null	Het
Olfr642	C	T	7: 104,049,740	V205I	probably benign	Het
Olfr951	A	T	9: 39,393,860	Q20L	probably benign	Het
Olfr951	G	T	9: 39,393,861	Q20H	probably benign	Het
Pcdhga2	A	T	18: 37,670,585	D494V	probably damaging	Het
Pcsk2	A	G	2: 143,813,747	E617G	probably damaging	Het
Pdc	T	C	1: 150,333,180	I138T	probably damaging	Het
Phc2	T	A	4: 128,748,134	S750T	probably damaging	Het
Pkd2l1	T	A	19: 44,191,508	N88Y	possibly damaging	Het
Plcl1	C	T	1: 55,406,598	R71*	probably null	Het
Prag1	C	A	8: 36,103,894	L544M	probably damaging	Het
Prkg2	A	G	5: 98,966,510		probably null	Het
Psd2	G	A	18: 35,979,711	S153N	probably damaging	Het
Rab11fip1	A	T	8: 27,152,972	S600T	probably damaging	Het
Rbms1	T	G	2: 60,762,304	T222P	probably benign	Het
Slfn8	A	T	11: 83,013,417	Y382*	probably null	Het
Socs4	T	A	14: 47,289,738	C43*	probably null	Het
Sorl1	T	A	9: 42,033,626	T868S	probably damaging	Het
St6gal1	A	G	16: 23,356,213	Y267C	probably damaging	Het
Syne1	A	G	10: 5,126,682	V6879A	probably benign	Het
Syne2	C	A	12: 75,854,132	H22N	possibly damaging	Het
Tmeff2	T	A	1: 50,928,021	L25Q	probably damaging	Het
Tmprss11g	G	T	5: 86,487,426	D396E	probably benign	Het
Tmprss11g	T	A	5: 86,487,436	H393L	probably benign	Het
Vmn2r23	A	G	6: 123,704,553	E140G	probably damaging	Het
Wapl	T	C	14: 34,677,363	S130P	probably benign	Het
Zeb2	T	A	2: 44,994,529	K982M	probably damaging	Het
Zfhx3	C	G	8: 108,956,821	H3631D	unknown	Het
Zfp719	T	C	7: 43,590,706	S573P	probably damaging	Het
Zfp979	A	T	4: 147,613,542	C237S	possibly damaging	Het

Other mutations in 5430419D17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:5430419D17Rik	APN	7	131238094	splice site	probably null
IGL00848:5430419D17Rik	APN	7	131246724	missense	probably damaging	1.00
IGL00966:5430419D17Rik	APN	7	131243107	nonsense	probably null
IGL01286:5430419D17Rik	APN	7	131246703	missense	probably damaging	1.00
IGL01303:5430419D17Rik	APN	7	131194331	missense	possibly damaging	0.53
IGL01585:5430419D17Rik	APN	7	131244758	missense	probably damaging	0.97
IGL01665:5430419D17Rik	APN	7	131246657	nonsense	probably null
IGL01953:5430419D17Rik	APN	7	131224980	missense	probably benign	0.04
IGL02427:5430419D17Rik	APN	7	131244788	missense	probably damaging	0.99
IGL02508:5430419D17Rik	APN	7	131222830	missense	probably damaging	1.00
IGL02678:5430419D17Rik	APN	7	131228917	missense	probably damaging	1.00
IGL03092:5430419D17Rik	APN	7	131201798	critical splice donor site	probably null
IGL03122:5430419D17Rik	APN	7	131196514	missense	possibly damaging	0.68
IGL03343:5430419D17Rik	APN	7	131246691	missense	probably damaging	1.00
R0011:5430419D17Rik	UTSW	7	131229993	missense	probably damaging	0.99
R0011:5430419D17Rik	UTSW	7	131229993	missense	probably damaging	0.99
R0234:5430419D17Rik	UTSW	7	131194303	splice site	probably null
R0234:5430419D17Rik	UTSW	7	131194303	splice site	probably null
R0268:5430419D17Rik	UTSW	7	131238176	missense	probably damaging	1.00
R0383:5430419D17Rik	UTSW	7	131239539	missense	probably benign	0.05
R0973:5430419D17Rik	UTSW	7	131238182	missense	probably damaging	1.00
R0973:5430419D17Rik	UTSW	7	131238182	missense	probably damaging	1.00
R0974:5430419D17Rik	UTSW	7	131238182	missense	probably damaging	1.00
R1572:5430419D17Rik	UTSW	7	131244831	nonsense	probably null
R1911:5430419D17Rik	UTSW	7	131238089	missense	probably damaging	1.00
R2032:5430419D17Rik	UTSW	7	131243052	missense	probably damaging	1.00
R2097:5430419D17Rik	UTSW	7	131181964	nonsense	probably null
R2221:5430419D17Rik	UTSW	7	131247457	critical splice acceptor site	probably null
R2223:5430419D17Rik	UTSW	7	131247457	critical splice acceptor site	probably null
R2254:5430419D17Rik	UTSW	7	131222905	missense	probably damaging	1.00
R2913:5430419D17Rik	UTSW	7	131182024	missense	possibly damaging	0.90
R2991:5430419D17Rik	UTSW	7	131246700	missense	probably damaging	1.00
R3439:5430419D17Rik	UTSW	7	131188779	critical splice donor site	probably null
R4418:5430419D17Rik	UTSW	7	131247465	missense	possibly damaging	0.86
R4916:5430419D17Rik	UTSW	7	131174477	splice site	probably null
R5488:5430419D17Rik	UTSW	7	131246595	missense	probably damaging	1.00
R5594:5430419D17Rik	UTSW	7	131239523	missense	probably benign	0.12
R5897:5430419D17Rik	UTSW	7	131196551	splice site	probably null
R5898:5430419D17Rik	UTSW	7	131241967	splice site	probably null
R5940:5430419D17Rik	UTSW	7	131238263	missense	probably damaging	1.00
R6170:5430419D17Rik	UTSW	7	131174487	splice site	probably null
R6187:5430419D17Rik	UTSW	7	131270599	intron	probably benign
R6321:5430419D17Rik	UTSW	7	131257006	critical splice donor site	probably null
R6409:5430419D17Rik	UTSW	7	131262071	intron	probably benign
R6432:5430419D17Rik	UTSW	7	131244872	critical splice donor site	probably null
R6481:5430419D17Rik	UTSW	7	131256801	missense	probably benign	0.05
R6750:5430419D17Rik	UTSW	7	131288245	intron	probably benign
R6783:5430419D17Rik	UTSW	7	131226764	missense	probably damaging	0.99
R6836:5430419D17Rik	UTSW	7	131196504	missense	possibly damaging	0.84
R6995:5430419D17Rik	UTSW	7	131222671	missense	probably damaging	1.00
R7199:5430419D17Rik	UTSW	7	131235912	nonsense	probably null
R7205:5430419D17Rik	UTSW	7	131277623	critical splice donor site	probably null
R7340:5430419D17Rik	UTSW	7	131277615	missense	unknown
R7354:5430419D17Rik	UTSW	7	131256729	missense	possibly damaging	0.84
R7354:5430419D17Rik	UTSW	7	131272033	missense	unknown
R7434:5430419D17Rik	UTSW	7	131279483	missense	unknown
R7485:5430419D17Rik	UTSW	7	131228833	missense	probably damaging	0.99
R7513:5430419D17Rik	UTSW	7	131272071	missense	unknown
R7562:5430419D17Rik	UTSW	7	131302697	missense	unknown
R7623:5430419D17Rik	UTSW	7	131277566	splice site	probably null
R7782:5430419D17Rik	UTSW	7	131302737	splice site	probably null
R7879:5430419D17Rik	UTSW	7	131243142	missense	probably damaging	0.98
R7935:5430419D17Rik	UTSW	7	131250476	missense	probably damaging	0.96
R7949:5430419D17Rik	UTSW	7	131293595	splice site	probably null
R7964:5430419D17Rik	UTSW	7	131298234	missense	unknown
R7980:5430419D17Rik	UTSW	7	131234777	missense	probably damaging	0.98
R8145:5430419D17Rik	UTSW	7	131296316	missense	unknown
R8673:5430419D17Rik	UTSW	7	131243117	missense	probably damaging	0.99
R8684:5430419D17Rik	UTSW	7	131235959	nonsense	probably null
R8721:5430419D17Rik	UTSW	7	131277606	missense	unknown
R8725:5430419D17Rik	UTSW	7	131273756	missense	unknown
R8727:5430419D17Rik	UTSW	7	131273756	missense	unknown
R8742:5430419D17Rik	UTSW	7	131182012	missense	unknown
R8807:5430419D17Rik	UTSW	7	131244778	missense	probably damaging	0.97
R8822:5430419D17Rik	UTSW	7	131241977	critical splice acceptor site	probably null
R8861:5430419D17Rik	UTSW	7	131259961	nonsense	probably null
R8897:5430419D17Rik	UTSW	7	131265837	missense	unknown
R8900:5430419D17Rik	UTSW	7	131302468	intron	probably benign
R9214:5430419D17Rik	UTSW	7	131222752	missense	possibly damaging	0.89
R9218:5430419D17Rik	UTSW	7	131261999	missense	unknown
R9311:5430419D17Rik	UTSW	7	131257761	missense	unknown
R9323:5430419D17Rik	UTSW	7	131226672	missense	probably damaging	0.96
R9384:5430419D17Rik	UTSW	7	131302675	missense	unknown
R9387:5430419D17Rik	UTSW	7	131261891	missense	unknown
R9417:5430419D17Rik	UTSW	7	131250489	missense	possibly damaging	0.60
R9502:5430419D17Rik	UTSW	7	131235086	missense	possibly damaging	0.61
R9603:5430419D17Rik	UTSW	7	131228914	missense	probably damaging	0.98
R9642:5430419D17Rik	UTSW	7	131246528	missense	probably benign	0.01
Z1088:5430419D17Rik	UTSW	7	131246633	missense	probably damaging	1.00
Z1177:5430419D17Rik	UTSW	7	131265866	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGTGGCGTAATTGCATAGACTAC -3'
(R):5'- GTCACAGTTGTGGGAGAACC -3'

Sequencing Primer
(F):5'- GTTGTAGACCATAGCCATCAGTG -3'
(R):5'- ACCTTGCCCAAAGTAAGC -3'

Posted On

2018-11-28