Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4791001:5830411N06Rik'

556974

Institutional Source

Beutler Lab

Gene Symbol

5830411N06Rik

Ensembl Gene

ENSMUSG00000054672

Gene Name

RIKEN cDNA 5830411N06 gene

Synonyms

Scart2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4791001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140247284-140300736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140274062 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 326 (F326S)

Ref Sequence

ENSEMBL: ENSMUSP00000131905 (fasta)

Gene Model

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

AlphaFold

B3F5L4

Predicted Effect

probably benign
Transcript: ENSMUST00000093984

SMART Domains

Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672

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

possibly damaging
Transcript: ENSMUST00000164583
AA Change: F326S

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: F326S

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

Coding Region Coverage

1x: 93.5%
3x: 90.8%
10x: 83.3%
20x: 68.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago2	G	A	15: 73,121,240	T472I	possibly damaging	Het
Ambp	T	A	4: 63,154,061		probably benign	Het
As3mt	T	A	19: 46,720,349	F261I	probably damaging	Het
Atxn1l	A	G	8: 109,731,947	L561P	probably damaging	Het
Cnr2	A	G	4: 135,916,952	T114A	probably damaging	Het
Dchs1	A	G	7: 105,758,971	Y1885H	probably damaging	Het
Dcn	A	G	10: 97,507,742	N188S	probably benign	Het
Dennd6b	A	C	15: 89,186,752		probably null	Het
Dstyk	A	G	1: 132,449,927	T424A	probably benign	Het
Gabrr3	A	G	16: 59,429,935		probably null	Het
Gnai3	A	G	3: 108,118,305	S153P	probably benign	Het
Igkv2-112	T	A	6: 68,220,615	S90R	probably damaging	Het
Lxn	T	C	3: 67,458,646	D173G	probably damaging	Het
Mcm3ap	T	A	10: 76,506,473	I1600N	probably damaging	Het
Myof	A	T	19: 37,982,958		probably null	Het
Nrxn1	T	C	17: 90,455,503		probably benign	Het
Oaz3	A	G	3: 94,433,545	Y232H	unknown	Het
Olfr1107	A	T	2: 87,071,702	M144K	possibly damaging	Het
Pkdcc	C	T	17: 83,220,148	R252*	probably null	Het
Plcl1	A	G	1: 55,701,931	N907S	probably benign	Het
Plscr1	T	A	9: 92,263,097	Y53*	probably null	Het
Pm20d2	T	C	4: 33,174,756	T377A	probably benign	Het
Ptchd3	T	A	11: 121,832,049	V321D	probably damaging	Het
Ranbp3l	T	C	15: 9,060,748	I366T	probably damaging	Het
Sardh	T	C	2: 27,197,648	E737G	probably damaging	Het
Scn1a	T	C	2: 66,273,282	E1878G	probably benign	Het
Slit3	T	C	11: 35,661,245	V872A	possibly damaging	Het
Sugp2	C	T	8: 70,260,545	Q1054*	probably null	Het
Syne3	T	C	12: 104,963,179	T261A	probably benign	Het
Tgif2	T	C	2: 156,853,312	S126P	probably benign	Het
Ticrr	T	C	7: 79,669,638	V457A	possibly damaging	Het
Tm7sf2	T	C	19: 6,063,605	I299V	probably benign	Het
Tnks1bp1	A	G	2: 85,062,558	E943G	probably benign	Het
Tpd52l2	T	A	2: 181,499,888	F21L	probably benign	Het
Tpm2	A	G	4: 43,519,263	L176P	probably benign	Het
Trim34a	C	A	7: 104,260,484	T293K	probably benign	Het
Ttc23	A	T	7: 67,662,387	D14V	probably damaging	Het
Twsg1	T	C	17: 65,929,711	E108G	probably benign	Het
Txndc15	C	T	13: 55,721,694	A220V	probably benign	Het
Vmn1r183	A	G	7: 24,054,841	Q23R	probably damaging	Het
Vmn1r31	A	G	6: 58,472,043	V279A	probably damaging	Het
Vmo1	A	C	11: 70,513,835	C113W	probably damaging	Het
Zfp984	A	G	4: 147,756,146	S83P	probably benign	Het
Zik1	A	C	7: 10,492,329	L37R	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
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
R7985:5830411N06Rik	UTSW	7	140296893	missense	probably damaging	1.00
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'- TTTCAACAAGTCAGGCTGGCC -3'
(R):5'- TGGCGACAACCGTGATGAAC -3'

Sequencing Primer
(F):5'- AGAGGTGCCAGTCCATGTG -3'
(R):5'- CGTGATGAACAGAGAAGATTCTATTG -3'

Posted On

2019-06-07