Mutagenetix > Incidental Mutation

Incidental Mutation 'R7985:5830411N06Rik'

651430

Institutional Source

Beutler Lab

Gene Symbol

5830411N06Rik

Ensembl Gene

ENSMUSG00000054672

Gene Name

RIKEN cDNA 5830411N06 gene

Synonyms

Scart2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7985 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140247284-140300736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140296893 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 732 (D732E)

Ref Sequence

ENSEMBL: ENSMUSP00000131905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093984] [ENSMUST00000164583]

AlphaFold

B3F5L4

Predicted Effect

probably damaging
Transcript: ENSMUST00000093984
AA Change: D616E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: D616E

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SR	29	130	1.49e-18	SMART
SR	137	233	2.53e-4	SMART
SR	238	336	1.65e-34	SMART
SR	340	440	4.53e-32	SMART
SR	446	546	8.78e-30	SMART
SR	551	651	1.26e-53	SMART
SR	656	756	2.88e-16	SMART
SR	783	883	7.62e-48	SMART
transmembrane domain	903	925	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164583
AA Change: D732E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: D732E

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SR	29	130	1.49e-18	SMART
SR	137	233	2.53e-4	SMART
Blast:SR	291	349	5e-12	BLAST
SR	354	452	1.65e-34	SMART
SR	456	556	4.53e-32	SMART
SR	562	662	8.78e-30	SMART
SR	667	767	1.26e-53	SMART
SR	772	872	2.88e-16	SMART
SR	899	999	7.62e-48	SMART
transmembrane domain	1019	1041	N/A	INTRINSIC

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,664,349	S77R	unknown	Het
4933425L06Rik	C	T	13: 105,119,974	T517I	probably benign	Het
Adamts1	T	C	16: 85,798,114	Y582C	probably damaging	Het
Ahnak2	A	T	12: 112,778,963	V683E		Het
Allc	T	G	12: 28,553,972	T371P	probably damaging	Het
Ankrd12	A	G	17: 65,984,196	I1414T	probably benign	Het
Bahcc1	A	G	11: 120,272,891	K672E	probably damaging	Het
C3ar1	A	T	6: 122,850,005	S418T	probably damaging	Het
C530008M17Rik	T	C	5: 76,658,050	V123A	unknown	Het
Calca	A	G	7: 114,635,178	V12A	possibly damaging	Het
Carmil3	A	G	14: 55,496,952	E410G	probably benign	Het
Cfh	A	G	1: 140,108,826	F680S	probably damaging	Het
Csf3	G	A	11: 98,702,447	G130D	probably damaging	Het
Cuedc1	A	T	11: 88,182,516	Q169L	probably benign	Het
Cyp2c66	T	A	19: 39,113,986	W20R	probably null	Het
Dguok	C	T	6: 83,480,932	E240K	probably damaging	Het
Dlg1	T	G	16: 31,788,105	Y220*	probably null	Het
Dnah7a	T	C	1: 53,518,727	Y2176C	probably damaging	Het
Dnaic1	T	C	4: 41,630,055	I488T	probably benign	Het
Dock1	G	T	7: 134,746,954	C299F	possibly damaging	Het
Ebi3	C	T	17: 55,953,997	T59M	probably benign	Het
Esrp1	G	A	4: 11,367,153	S160F	probably benign	Het
Evi5l	A	G	8: 4,203,536	D471G	probably benign	Het
Farp2	T	C	1: 93,576,524	F341S	probably damaging	Het
Fbn1	A	G	2: 125,301,878	V2777A	probably benign	Het
Glcci1	T	C	6: 8,573,186	I225T	probably damaging	Het
Gm3336	A	G	8: 70,720,527	T63A	unknown	Het
Gm35339	T	C	15: 76,361,487	V1308A		Het
Gm8909	T	G	17: 36,167,553	T168P	probably damaging	Het
Gm9767	A	G	10: 26,078,783	T78A	unknown	Het
Habp4	T	A	13: 64,176,046	M261K	probably benign	Het
Herc2	A	G	7: 56,165,244	T2744A	probably benign	Het
Hlx	A	G	1: 184,732,026	V39A	probably benign	Het
Ifi204	G	A	1: 173,760,206	T129I	possibly damaging	Het
Itfg1	A	G	8: 85,725,568	I534T	probably damaging	Het
Klhl33	A	T	14: 50,891,505	C496S	probably benign	Het
Lamb1	T	A	12: 31,300,215	V713D	possibly damaging	Het
Mon2	G	T	10: 123,016,308	H1052Q	probably damaging	Het
Ndst2	T	C	14: 20,728,410		probably null	Het
Nphp1	A	T	2: 127,745,909	M582K	probably damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,595,057		probably benign	Het
Olfr317	A	G	11: 58,732,706	V153A	possibly damaging	Het
Olfr911-ps1	T	A	9: 38,523,943	D70E	probably damaging	Het
Padi2	A	T	4: 140,932,092	H236L	probably benign	Het
Pira2	A	T	7: 3,841,697	F445Y	probably benign	Het
Psenen	T	C	7: 30,562,078	I75V	probably benign	Het
Pycr1	A	T	11: 120,642,920	M37K	probably benign	Het
Rpl4	T	A	9: 64,177,930	N317K	probably damaging	Het
Scn8a	T	A	15: 101,016,962		probably null	Het
Sdk1	A	G	5: 142,127,847	T1550A	probably damaging	Het
Shisa6	G	T	11: 66,375,164	T246K		Het
Sis	A	T	3: 72,936,961		probably null	Het
Slc22a14	A	C	9: 119,170,638	S496A	probably benign	Het
Slc8a3	G	A	12: 81,314,993	R351C	probably damaging	Het
Surf2	A	G	2: 26,919,276	K202R	probably benign	Het
Tnxb	T	A	17: 34,717,010		probably null	Het
Ugt2b36	T	A	5: 87,092,124	N134I	probably damaging	Het
Xpr1	G	A	1: 155,312,895	A333V	possibly damaging	Het
Zfp408	A	T	2: 91,646,431	M126K	probably benign	Het
Zfy2	T	C	Y: 2,116,263	Q259R	probably benign	Het

Other mutations in 5830411N06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:5830411N06Rik	APN	7	140294842	missense	probably damaging	0.99
IGL01101:5830411N06Rik	APN	7	140296104	missense	probably benign	0.35
IGL01120:5830411N06Rik	APN	7	140296559	missense	probably benign	0.02
IGL01958:5830411N06Rik	APN	7	140274127	missense	probably damaging	1.00
IGL02150:5830411N06Rik	APN	7	140297859	missense	possibly damaging	0.84
IGL02193:5830411N06Rik	APN	7	140249000	missense	probably benign	0.17
IGL02239:5830411N06Rik	APN	7	140295843	missense	probably damaging	1.00
IGL02335:5830411N06Rik	APN	7	140296540	missense	probably damaging	1.00
IGL02569:5830411N06Rik	APN	7	140298362	missense	probably benign	0.01
IGL02993:5830411N06Rik	APN	7	140296573	missense	probably benign	0.07
IGL03261:5830411N06Rik	APN	7	140294833	missense	probably benign	0.00
IGL03365:5830411N06Rik	APN	7	140296769	missense	probably damaging	1.00
IGL03399:5830411N06Rik	APN	7	140247956	missense	probably benign	0.00
IGL03052:5830411N06Rik	UTSW	7	140248914	missense	probably damaging	1.00
PIT4791001:5830411N06Rik	UTSW	7	140274062	missense	possibly damaging	0.53
R0021:5830411N06Rik	UTSW	7	140296397	missense	probably benign	0.15
R0021:5830411N06Rik	UTSW	7	140296397	missense	probably benign	0.15
R0347:5830411N06Rik	UTSW	7	140297854	missense	probably damaging	1.00
R0374:5830411N06Rik	UTSW	7	140248961	missense	probably damaging	1.00
R0639:5830411N06Rik	UTSW	7	140247959	missense	probably benign	0.01
R0667:5830411N06Rik	UTSW	7	140261537	missense	possibly damaging	0.73
R0789:5830411N06Rik	UTSW	7	140248220	missense	probably damaging	1.00
R0959:5830411N06Rik	UTSW	7	140294791	missense	probably damaging	1.00
R1316:5830411N06Rik	UTSW	7	140299670	missense	probably benign	0.09
R1764:5830411N06Rik	UTSW	7	140297265	missense	probably benign	0.00
R2247:5830411N06Rik	UTSW	7	140249129	missense	probably null	0.96
R2379:5830411N06Rik	UTSW	7	140299769	missense	probably benign	0.15
R4112:5830411N06Rik	UTSW	7	140298368	nonsense	probably null
R4114:5830411N06Rik	UTSW	7	140297910	missense	probably damaging	1.00
R4346:5830411N06Rik	UTSW	7	140247965	missense	probably damaging	0.97
R4836:5830411N06Rik	UTSW	7	140299108	missense	probably benign
R4956:5830411N06Rik	UTSW	7	140298362	missense	probably benign	0.00
R5208:5830411N06Rik	UTSW	7	140298036	missense	probably benign	0.00
R5571:5830411N06Rik	UTSW	7	140249123	missense	probably damaging	1.00
R5583:5830411N06Rik	UTSW	7	140296826	missense	probably damaging	1.00
R5645:5830411N06Rik	UTSW	7	140248940	missense	possibly damaging	0.95
R6183:5830411N06Rik	UTSW	7	140296034	missense	possibly damaging	0.82
R6995:5830411N06Rik	UTSW	7	140261601	missense	probably benign
R7436:5830411N06Rik	UTSW	7	140261607	missense	probably benign
R7621:5830411N06Rik	UTSW	7	140296829	missense	probably damaging	1.00
R7662:5830411N06Rik	UTSW	7	140294812	missense	possibly damaging	0.58
R7669:5830411N06Rik	UTSW	7	140296321	missense	possibly damaging	0.47
R7686:5830411N06Rik	UTSW	7	140249052	missense	probably benign	0.00
R8330:5830411N06Rik	UTSW	7	140296318	nonsense	probably null
R8843:5830411N06Rik	UTSW	7	140249000	missense	possibly damaging	0.93
R8888:5830411N06Rik	UTSW	7	140261619	missense	possibly damaging	0.93
R8895:5830411N06Rik	UTSW	7	140261619	missense	possibly damaging	0.93
R9044:5830411N06Rik	UTSW	7	140248097	missense	probably damaging	1.00
R9142:5830411N06Rik	UTSW	7	140297893	missense	probably damaging	1.00
R9152:5830411N06Rik	UTSW	7	140297343	missense	possibly damaging	0.55
R9470:5830411N06Rik	UTSW	7	140247432	missense	probably benign	0.07
R9509:5830411N06Rik	UTSW	7	140299731	nonsense	probably null
R9522:5830411N06Rik	UTSW	7	140274074	missense	possibly damaging	0.73
R9755:5830411N06Rik	UTSW	7	140261631	critical splice donor site	probably null
R9794:5830411N06Rik	UTSW	7	140294803	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCTTGCACATACGGTTGG -3'
(R):5'- GACTATGTTCTTGCAACCTCAC -3'

Sequencing Primer
(F):5'- GTAAGAACCGCTGTGCTGG -3'
(R):5'- TGCAACCTCACATCAATAAATTCTG -3'

Posted On

2020-09-15