Mutagenetix > Incidental Mutation

Incidental Mutation 'R4752:F830016B08Rik'

357705

Institutional Source

Beutler Lab

Gene Symbol

F830016B08Rik

Ensembl Gene

ENSMUSG00000090942

Gene Name

RIKEN cDNA F830016B08 gene

Synonyms

Ifgga4

MMRRC Submission

042032-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R4752 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60426452-60436088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60434153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 412 (N412S)

Ref Sequence

ENSEMBL: ENSMUSP00000131437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171297]

AlphaFold

G3UWE2

Predicted Effect

probably benign
Transcript: ENSMUST00000171297
AA Change: N412S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131437
Gene: ENSMUSG00000090942
AA Change: N412S

Domain	Start	End	E-Value	Type
Pfam:IIGP	35	405	1.1e-131	PFAM
Pfam:ABC_tran	68	214	7.3e-7	PFAM
Pfam:MMR_HSR1	71	197	2.2e-10	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	A	3: 137,775,751 (GRCm39)	Q1647K	possibly damaging	Het
Abcf3	A	G	16: 20,369,326 (GRCm39)	E236G	probably damaging	Het
Adamts17	A	G	7: 66,654,218 (GRCm39)	T483A	probably damaging	Het
Ankrd26	G	T	6: 118,517,426 (GRCm39)	P465Q	probably null	Het
Babam2	C	T	5: 31,859,391 (GRCm39)		probably benign	Het
Bpifb1	T	A	2: 154,058,200 (GRCm39)		probably benign	Het
Ccnb1ip1	T	A	14: 51,031,122 (GRCm39)	T64S	possibly damaging	Het
Cdhr3	A	G	12: 33,136,102 (GRCm39)	V46A	probably damaging	Het
Cep170	A	T	1: 176,584,254 (GRCm39)	D708E	probably benign	Het
Cpsf6	A	T	10: 117,197,273 (GRCm39)		probably benign	Het
Cryzl2	C	T	1: 157,286,219 (GRCm39)		probably null	Het
Dgka	A	T	10: 128,572,528 (GRCm39)	F42I	probably benign	Het
Dip2a	A	T	10: 76,112,491 (GRCm39)	V1059E	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dock4	T	A	12: 40,496,364 (GRCm39)	I3K	probably benign	Het
Dsc2	A	T	18: 20,171,279 (GRCm39)	N573K	probably damaging	Het
Eif2b4	G	A	5: 31,348,575 (GRCm39)	R213*	probably null	Het
Eif3b	A	G	5: 140,426,856 (GRCm39)	D704G	probably benign	Het
Epn2	T	C	11: 61,437,197 (GRCm39)	E125G	probably damaging	Het
Fbln2	A	G	6: 91,233,225 (GRCm39)	M570V	probably benign	Het
Gm16686	A	T	4: 88,673,725 (GRCm39)		probably benign	Het
Hook2	C	T	8: 85,729,349 (GRCm39)	Q632*	probably null	Het
Ipcef1	A	T	10: 6,929,573 (GRCm39)	W56R	probably damaging	Het
Krt78	T	C	15: 101,856,637 (GRCm39)	I418M	probably benign	Het
Limk1	G	A	5: 134,699,295 (GRCm39)	T154I	probably damaging	Het
Lyl1	A	T	8: 85,430,910 (GRCm39)	T271S	probably benign	Het
Megf6	A	G	4: 154,336,895 (GRCm39)	I333V	probably damaging	Het
Meioc	A	G	11: 102,565,259 (GRCm39)	T236A	probably benign	Het
Nbas	A	G	12: 13,532,538 (GRCm39)	T1749A	possibly damaging	Het
Nfib	T	A	4: 82,215,016 (GRCm39)	Q529L	probably damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Nisch	A	T	14: 30,914,545 (GRCm39)	F42L	probably damaging	Het
Nomo1	T	A	7: 45,706,626 (GRCm39)	Y547N	probably damaging	Het
Or10g3	C	T	14: 52,609,764 (GRCm39)	V249I	probably damaging	Het
Or13a24	T	C	7: 140,154,515 (GRCm39)	S150P	possibly damaging	Het
Or5l14	A	G	2: 87,792,693 (GRCm39)	L181P	probably damaging	Het
Or8g51	T	C	9: 38,609,266 (GRCm39)	Y136C	probably damaging	Het
Pcdh18	T	A	3: 49,709,563 (GRCm39)	N117I	probably damaging	Het
Prkn	T	C	17: 12,223,010 (GRCm39)	S387P	probably benign	Het
Prl3c1	A	T	13: 27,387,508 (GRCm39)	K164N	probably benign	Het
Prr23a3	T	A	9: 98,747,700 (GRCm39)	L218Q	probably damaging	Het
Prss43	A	G	9: 110,656,836 (GRCm39)	H114R	possibly damaging	Het
Ptcd3	A	T	6: 71,878,296 (GRCm39)	M142K	probably damaging	Het
Shisa7	G	A	7: 4,837,249 (GRCm39)	T89I	possibly damaging	Het
Slco1a1	C	T	6: 141,892,340 (GRCm39)	A9T	possibly damaging	Het
Srcap	C	T	7: 127,158,172 (GRCm39)		probably benign	Het
Tdg-ps	G	A	15: 82,400,572 (GRCm39)		noncoding transcript	Het
Tgm4	A	G	9: 122,880,451 (GRCm39)	D284G	probably damaging	Het
Tmc1	T	A	19: 20,804,013 (GRCm39)	I355F	probably benign	Het
Tmem121b	A	T	6: 120,469,995 (GRCm39)	F241I	possibly damaging	Het
Tmem200c	T	A	17: 69,149,235 (GRCm39)	V606E	probably benign	Het
Ttc39c	A	G	18: 12,861,782 (GRCm39)	K370R	probably benign	Het
Vmn2r87	G	A	10: 130,314,336 (GRCm39)	Q417*	probably null	Het
Vps45	T	C	3: 95,955,699 (GRCm39)	Y97C	possibly damaging	Het
Zfp407	A	G	18: 84,581,039 (GRCm39)	S25P	probably benign	Het
Zfp566	A	G	7: 29,777,306 (GRCm39)	S292P	probably damaging	Het

Other mutations in F830016B08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:F830016B08Rik	APN	18	60,433,340 (GRCm39)	missense	probably damaging	1.00
IGL02642:F830016B08Rik	APN	18	60,433,058 (GRCm39)	missense	probably benign	0.00
FR4342:F830016B08Rik	UTSW	18	60,433,013 (GRCm39)	small insertion	probably benign
R0172:F830016B08Rik	UTSW	18	60,433,036 (GRCm39)	missense	possibly damaging	0.64
R0375:F830016B08Rik	UTSW	18	60,433,265 (GRCm39)	missense	probably damaging	1.00
R1517:F830016B08Rik	UTSW	18	60,433,970 (GRCm39)	nonsense	probably null
R1791:F830016B08Rik	UTSW	18	60,433,589 (GRCm39)	missense	probably benign	0.01
R2413:F830016B08Rik	UTSW	18	60,433,365 (GRCm39)	nonsense	probably null
R2696:F830016B08Rik	UTSW	18	60,433,808 (GRCm39)	missense	possibly damaging	0.75
R3607:F830016B08Rik	UTSW	18	60,433,780 (GRCm39)	nonsense	probably null
R4612:F830016B08Rik	UTSW	18	60,434,087 (GRCm39)	missense	probably benign	0.42
R4621:F830016B08Rik	UTSW	18	60,433,939 (GRCm39)	missense	probably benign	0.01
R5755:F830016B08Rik	UTSW	18	60,433,878 (GRCm39)	missense	probably damaging	1.00
R5909:F830016B08Rik	UTSW	18	60,433,091 (GRCm39)	missense	probably damaging	1.00
R6183:F830016B08Rik	UTSW	18	60,432,949 (GRCm39)	missense	probably benign	0.00
R6272:F830016B08Rik	UTSW	18	60,433,150 (GRCm39)	missense	probably damaging	1.00
R7076:F830016B08Rik	UTSW	18	60,433,543 (GRCm39)	missense	probably damaging	1.00
R8130:F830016B08Rik	UTSW	18	60,433,052 (GRCm39)	missense	probably benign	0.00
R8171:F830016B08Rik	UTSW	18	60,433,150 (GRCm39)	missense	possibly damaging	0.94
R8289:F830016B08Rik	UTSW	18	60,433,360 (GRCm39)	missense	probably benign	0.45
R9034:F830016B08Rik	UTSW	18	60,433,141 (GRCm39)	missense	probably damaging	0.96
R9600:F830016B08Rik	UTSW	18	60,433,237 (GRCm39)	missense	probably damaging	0.99
R9614:F830016B08Rik	UTSW	18	60,433,379 (GRCm39)	missense	probably damaging	1.00
R9633:F830016B08Rik	UTSW	18	60,432,965 (GRCm39)	missense	probably damaging	0.99
R9638:F830016B08Rik	UTSW	18	60,432,956 (GRCm39)	missense	probably benign	0.00
R9684:F830016B08Rik	UTSW	18	60,433,043 (GRCm39)	missense	probably damaging	0.97
R9729:F830016B08Rik	UTSW	18	60,433,558 (GRCm39)	missense	possibly damaging	0.88
RF044:F830016B08Rik	UTSW	18	60,433,010 (GRCm39)	small insertion	probably benign
RF054:F830016B08Rik	UTSW	18	60,433,010 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGATTTCCAAGTGCCTGTTG -3'
(R):5'- AGAAGGATTGGGGATTGTCAAGTTC -3'

Sequencing Primer
(F):5'- TCCAAGTGCCTGTTGAACAG -3'
(R):5'- CCAGGTTTTCCTATGGTGG -3'

Posted On

2015-11-11