Mutagenetix > Incidental Mutation

Incidental Mutation 'R5884:Fam89a'

502017

Institutional Source

Beutler Lab

Gene Symbol

Fam89a

Ensembl Gene

ENSMUSG00000043068

Gene Name

family with sequence similarity 89, member A

Synonyms

2310031A18Rik

MMRRC Submission

044087-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R5884 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

125466996-125478571 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125478508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 14 (R14H)

Ref Sequence

ENSEMBL: ENSMUSP00000058156 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055257]

AlphaFold

Q14BJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000055257
AA Change: R14H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058156
Gene: ENSMUSG00000043068
AA Change: R14H

Domain	Start	End	E-Value	Type
low complexity region	17	39	N/A	INTRINSIC
low complexity region	59	71	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 95.6%
20x: 82.8%

Validation Efficiency

96% (66/69)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bmp5	T	C	9: 75,805,836 (GRCm39)	M446T	probably damaging	Het
Cacna1g	C	T	11: 94,328,693 (GRCm39)	A1052T	probably damaging	Het
Cand1	C	T	10: 119,049,670 (GRCm39)	A359T	possibly damaging	Het
Ccne2	A	T	4: 11,199,411 (GRCm39)	T271S	probably benign	Het
Cep112	A	G	11: 108,461,142 (GRCm39)	T546A	probably damaging	Het
Ces1g	A	G	8: 94,033,558 (GRCm39)	S455P	probably benign	Het
Dnah11	A	T	12: 118,141,269 (GRCm39)	C496S	probably benign	Het
Dtx3l	C	G	16: 35,752,603 (GRCm39)	E668Q	probably benign	Het
Dysf	T	A	6: 84,163,063 (GRCm39)	F1579I	probably damaging	Het
Emx2	T	G	19: 59,452,461 (GRCm39)	D248E	probably damaging	Het
Eri2	A	C	7: 119,371,552 (GRCm39)	*275E	probably null	Het
F5	G	A	1: 164,023,215 (GRCm39)	R1591H	probably benign	Het
Fabp3	A	G	4: 130,206,131 (GRCm39)	T41A	probably benign	Het
Gbe1	T	A	16: 70,325,763 (GRCm39)		probably null	Het
Golga3	A	G	5: 110,364,761 (GRCm39)	E1211G	probably damaging	Het
Gpa33	T	C	1: 165,980,329 (GRCm39)	S131P	probably damaging	Het
Hyal6	T	C	6: 24,743,368 (GRCm39)	Y355H	probably damaging	Het
Ide	A	T	19: 37,249,552 (GRCm39)		probably null	Het
Ighv5-21	A	T	12: 114,283,806 (GRCm39)		probably benign	Het
Iglc1	A	T	16: 18,880,741 (GRCm39)		probably benign	Het
Impa1	A	T	3: 10,381,284 (GRCm39)	N199K	probably damaging	Het
Irx5	A	C	8: 93,087,258 (GRCm39)	T397P	possibly damaging	Het
Lonp2	A	G	8: 87,368,254 (GRCm39)	Y356C	probably damaging	Het
Matn4	A	T	2: 164,246,528 (GRCm39)		probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Nav2	T	A	7: 49,246,917 (GRCm39)	Y2147*	probably null	Het
Nek5	C	T	8: 22,578,817 (GRCm39)		probably null	Het
Omt2b	A	G	9: 78,235,839 (GRCm39)	M55V	probably benign	Het
Or5d37	A	G	2: 87,924,140 (GRCm39)	Y47H	probably damaging	Het
Or6z1	C	A	7: 6,504,842 (GRCm39)	V128L	probably benign	Het
Or9g8	T	A	2: 85,607,399 (GRCm39)	I157K	probably damaging	Het
Parp4	T	A	14: 56,852,207 (GRCm39)	H796Q	probably damaging	Het
Pex2	T	C	3: 5,626,359 (GRCm39)	E150G	probably benign	Het
Poglut2	T	C	1: 44,156,260 (GRCm39)	N109S	probably benign	Het
Psmb2	T	A	4: 126,578,014 (GRCm39)	V64E	possibly damaging	Het
Psmd6	C	T	14: 14,116,526 (GRCm38)	R63H	probably damaging	Het
Ptprd	A	G	4: 75,900,927 (GRCm39)	Y1061H	probably damaging	Het
Rab23	A	G	1: 33,763,967 (GRCm39)		probably benign	Het
Rad51ap2	GAAAAGGAAACTATTTAAAA	GAAAA	12: 11,507,534 (GRCm39)		probably benign	Het
Reg1	C	T	6: 78,405,200 (GRCm39)	S141L	possibly damaging	Het
Rock1	A	T	18: 10,099,361 (GRCm39)	I680K	probably benign	Het
Sez6l2	A	G	7: 126,569,328 (GRCm39)		probably benign	Het
Slc34a2	A	T	5: 53,226,722 (GRCm39)	Q615L	possibly damaging	Het
Slu7	A	G	11: 43,334,245 (GRCm39)	K424E	probably benign	Het
Tctn2	A	T	5: 124,741,895 (GRCm39)		noncoding transcript	Het
Tmem87a	T	A	2: 120,234,605 (GRCm39)		probably benign	Het
Trappc4	A	G	9: 44,315,385 (GRCm39)	F198L	probably damaging	Het
Usp33	C	T	3: 152,073,967 (GRCm39)	T271I	probably benign	Het
Vmn1r15	T	A	6: 57,235,993 (GRCm39)	I287K	probably damaging	Het
Vmn2r75	A	C	7: 85,814,578 (GRCm39)	I305R	probably benign	Het
Wdr26	T	C	1: 181,015,106 (GRCm39)		probably benign	Het
Zzz3	T	C	3: 152,156,295 (GRCm39)	S684P	probably damaging	Het

Other mutations in Fam89a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0238:Fam89a	UTSW	8	125,467,971 (GRCm39)	missense	probably damaging	1.00
R0238:Fam89a	UTSW	8	125,467,971 (GRCm39)	missense	probably damaging	1.00
R4883:Fam89a	UTSW	8	125,467,823 (GRCm39)	missense	possibly damaging	0.68
R5578:Fam89a	UTSW	8	125,467,968 (GRCm39)	nonsense	probably null
R6490:Fam89a	UTSW	8	125,467,982 (GRCm39)	missense	probably damaging	1.00
R7203:Fam89a	UTSW	8	125,478,418 (GRCm39)	missense	possibly damaging	0.79
R7915:Fam89a	UTSW	8	125,467,895 (GRCm39)	missense	probably damaging	0.96
R7948:Fam89a	UTSW	8	125,478,409 (GRCm39)	missense	probably damaging	1.00
R9663:Fam89a	UTSW	8	125,478,436 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACCATCTCCTTGCGCAACAG -3'
(R):5'- AGACTTAAGGTGTCCCCGAG -3'

Sequencing Primer
(F):5'- GGCTTGGTCCGCATCCC -3'
(R):5'- TAGTCCGGAGCGCAGATG -3'

Posted On

2018-02-19