Mutagenetix > Incidental Mutation

Incidental Mutation 'R6183:F830016B08Rik'

487649

Institutional Source

Beutler Lab

Gene Symbol

F830016B08Rik

Ensembl Gene

ENSMUSG00000090942

Gene Name

RIKEN cDNA F830016B08 gene

Synonyms

Ifgga4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R6183 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60426452-60436088 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60432949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 11 (T11A)

Ref Sequence

ENSEMBL: ENSMUSP00000131437 (fasta)

Gene Model

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

AlphaFold

G3UWE2

Predicted Effect

probably benign
Transcript: ENSMUST00000171297
AA Change: T11A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000131437
Gene: ENSMUSG00000090942
AA Change: T11A

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,968,718 (GRCm39)	D352E	probably benign	Het
Adgrb3	T	A	1: 25,133,451 (GRCm39)	I972L	probably damaging	Het
Alg3	T	C	16: 20,429,391 (GRCm39)	Y33C	probably benign	Het
Atp1a3	C	T	7: 24,681,177 (GRCm39)	G816D	probably damaging	Het
Ccdc121	T	C	5: 31,645,320 (GRCm39)	Y358H	probably damaging	Het
Ces1g	C	T	8: 94,057,867 (GRCm39)	V145M	possibly damaging	Het
Clip1	A	G	5: 123,780,667 (GRCm39)	S339P	probably damaging	Het
Col2a1	G	T	15: 97,886,671 (GRCm39)	T378N	unknown	Het
Dennd4b	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAGCAGCAG	3: 90,182,875 (GRCm39)		probably benign	Het
Dnah12	T	A	14: 26,583,726 (GRCm39)	L3207Q	probably damaging	Het
Efcab5	T	C	11: 77,028,084 (GRCm39)	T416A	probably benign	Het
Ephb1	A	T	9: 102,072,524 (GRCm39)	I85N	probably damaging	Het
Etnppl	T	C	3: 130,413,966 (GRCm39)	C22R	probably damaging	Het
Gm5458	C	A	14: 19,649,712 (GRCm39)	V171L	probably damaging	Het
Helb	G	T	10: 119,948,903 (GRCm39)		probably null	Het
Hnrnpll	A	G	17: 80,357,305 (GRCm39)	V237A	possibly damaging	Het
Hps3	T	C	3: 20,063,032 (GRCm39)	T712A	probably benign	Het
Ibsp	A	G	5: 104,453,896 (GRCm39)	E78G	possibly damaging	Het
Ighv1-62-2	G	A	12: 115,410,056 (GRCm39)	A111V	probably damaging	Het
Igkv4-63	G	T	6: 69,355,108 (GRCm39)	Q58K	probably damaging	Het
Iqcg	T	C	16: 32,851,293 (GRCm39)	Y226C	probably damaging	Het
Khdc1a	A	T	1: 21,420,332 (GRCm39)	D30V	possibly damaging	Het
Krtap5-5	C	A	7: 141,783,524 (GRCm39)	C42F	unknown	Het
Lmod3	T	C	6: 97,229,514 (GRCm39)	N7D	probably damaging	Het
Lvrn	A	G	18: 46,983,752 (GRCm39)	N165S	probably benign	Het
Ms4a4c	A	G	19: 11,403,593 (GRCm39)	T192A	possibly damaging	Het
Ncald	A	T	15: 37,397,476 (GRCm39)	V68D	probably damaging	Het
Or4e5	T	A	14: 52,728,188 (GRCm39)	T78S	probably benign	Het
Pcdhgb7	A	T	18: 37,885,315 (GRCm39)	I162F	probably damaging	Het
Prokr1	T	C	6: 87,565,834 (GRCm39)	T4A	possibly damaging	Het
Qrich2	T	A	11: 116,348,955 (GRCm39)		probably benign	Het
Rgl1	C	T	1: 152,462,321 (GRCm39)	E60K	possibly damaging	Het
Rtn1	A	T	12: 72,455,265 (GRCm39)	W21R	probably benign	Het
Scart2	A	G	7: 139,875,947 (GRCm39)	T404A	possibly damaging	Het
Spast	A	G	17: 74,680,353 (GRCm39)	I438M	probably damaging	Het
Sptbn5	C	T	2: 119,889,898 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,975 (GRCm39)	Q228H	unknown	Het
Tas1r1	A	G	4: 152,116,998 (GRCm39)	I212T	probably damaging	Het
Tbc1d1	A	G	5: 64,432,768 (GRCm39)	N439D	probably damaging	Het
Tjp2	C	T	19: 24,078,155 (GRCm39)	A913T	probably damaging	Het
Tnfrsf26	A	G	7: 143,165,494 (GRCm39)	L47P	probably damaging	Het
Unc13a	A	T	8: 72,097,310 (GRCm39)	S1195T	probably damaging	Het
Usp54	T	C	14: 20,602,313 (GRCm39)	R1346G	probably damaging	Het
Vmn1r54	T	A	6: 90,246,272 (GRCm39)	M62K	possibly damaging	Het
Vmn2r125	A	T	4: 156,702,364 (GRCm39)	D50V	probably damaging	Het
Vmn2r66	T	C	7: 84,644,766 (GRCm39)	D548G	possibly damaging	Het
Vmn2r95	T	A	17: 18,664,192 (GRCm39)	N470K	probably damaging	Het
Zc3h7a	A	T	16: 10,965,234 (GRCm39)	I633N	possibly 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
R4752:F830016B08Rik	UTSW	18	60,434,153 (GRCm39)	missense	probably benign	0.00
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
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'- GTCAGGTTAGATGTAACACATTAGC -3'
(R):5'- CTCCTGTCACAGCAATATTTATTGGAG -3'

Sequencing Primer
(F):5'- GTCCAATCTGAGGGAGATAATTCCTC -3'
(R):5'- GCCCCATGAATGTTTCCT -3'

Posted On

2017-10-10