Mutagenetix > Incidental Mutation

Incidental Mutation 'R5654:Fam8a1'

442194

Institutional Source

Beutler Lab

Gene Symbol

Fam8a1

Ensembl Gene

ENSMUSG00000069237

Gene Name

family with sequence similarity 8, member A1

Synonyms

C78339

MMRRC Submission

043300-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R5654 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46822998-46831532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 46827814 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 334 (L334H)

Ref Sequence

ENSEMBL: ENSMUSP00000097144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099547]

AlphaFold

Q3URQ4

Predicted Effect

probably damaging
Transcript: ENSMUST00000099547
AA Change: L334H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097144
Gene: ENSMUSG00000069237
AA Change: L334H

Domain	Start	End	E-Value	Type
low complexity region	31	56	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	168	190	N/A	INTRINSIC
Pfam:RDD	229	389	2.9e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150376

Meta Mutation Damage Score

0.2012

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

96% (69/72)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	T	C	1: 75,151,479 (GRCm39)		probably null	Het
Abcc9	G	A	6: 142,571,371 (GRCm39)		probably benign	Het
Acss2	T	C	2: 155,416,575 (GRCm39)		probably benign	Het
Atp8b4	G	A	2: 126,217,725 (GRCm39)	T597I	probably damaging	Het
Btaf1	A	T	19: 36,961,015 (GRCm39)	N796I	probably benign	Het
Caskin2	T	C	11: 115,690,905 (GRCm39)		probably null	Het
Cdhr2	A	G	13: 54,884,349 (GRCm39)	N1295D	probably benign	Het
Cog3	G	A	14: 75,962,239 (GRCm39)	T534M	probably benign	Het
Cpne1	A	G	2: 155,919,561 (GRCm39)	S303P	probably damaging	Het
Cs	G	A	10: 128,187,086 (GRCm39)	G74S	possibly damaging	Het
Cyb5r4	G	T	9: 86,929,533 (GRCm39)	S229I	probably damaging	Het
Ddr1	C	T	17: 35,997,400 (GRCm39)	A531T	probably benign	Het
Ect2l	C	T	10: 18,018,810 (GRCm39)	V529M	probably damaging	Het
Edaradd	C	A	13: 12,493,161 (GRCm39)	R177L	possibly damaging	Het
Esf1	T	C	2: 140,006,148 (GRCm39)	D333G	possibly damaging	Het
Fbxl18	A	G	5: 142,871,558 (GRCm39)	I559T	probably damaging	Het
Fcrl2	A	C	3: 87,164,851 (GRCm39)	V225G	probably benign	Het
Ido1	C	T	8: 25,077,819 (GRCm39)	V83M	probably damaging	Het
Iffo1	T	G	6: 125,130,030 (GRCm39)	C419G	probably damaging	Het
Igfals	A	T	17: 25,100,439 (GRCm39)	Y510F	probably benign	Het
Ipo9	A	T	1: 135,313,210 (GRCm39)	Y1006*	probably null	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Jmjd1c	T	A	10: 67,065,785 (GRCm39)	S1737T	probably benign	Het
Klhl32	C	T	4: 24,800,805 (GRCm39)		probably null	Het
Klk1b11	T	A	7: 43,427,810 (GRCm39)	C173S	probably damaging	Het
Klk1b24	A	T	7: 43,840,889 (GRCm39)	M106L	probably benign	Het
Lamp1	G	A	8: 13,221,388 (GRCm39)		probably null	Het
Mapk4	A	T	18: 74,103,365 (GRCm39)	V48E	probably damaging	Het
Marchf6	A	T	15: 31,486,082 (GRCm39)	D395E	probably damaging	Het
Mdp1	A	G	14: 55,896,465 (GRCm39)	F157S	probably damaging	Het
Mettl21e	A	T	1: 44,250,255 (GRCm39)	F50L	probably damaging	Het
Mrgpra2a	A	G	7: 47,077,153 (GRCm39)	I35T	probably benign	Het
Natd1	T	C	11: 60,796,892 (GRCm39)	Y91C	probably damaging	Het
Nbas	T	A	12: 13,633,476 (GRCm39)	Y2294N	probably damaging	Het
Nrcam	A	G	12: 44,610,841 (GRCm39)	T520A	probably benign	Het
Nrf1	A	G	6: 30,117,061 (GRCm39)	T324A	probably benign	Het
Or10a2	G	A	7: 106,673,394 (GRCm39)	A120T	probably damaging	Het
Or4k51	T	A	2: 111,585,326 (GRCm39)	I244N	probably damaging	Het
Or52a5	A	C	7: 103,427,182 (GRCm39)	D123E	probably damaging	Het
Or5m11b	A	G	2: 85,806,500 (GRCm39)	I304M	probably benign	Het
Pam	C	T	1: 97,792,123 (GRCm39)	V433I	probably benign	Het
Pck1	T	A	2: 173,000,353 (GRCm39)	Y595N	probably damaging	Het
Per2	C	T	1: 91,373,223 (GRCm39)		probably null	Het
Piezo2	G	C	18: 63,278,162 (GRCm39)	F247L	possibly damaging	Het
Pkdcc	A	G	17: 83,523,337 (GRCm39)	Y148C	probably damaging	Het
Plod2	A	G	9: 92,475,876 (GRCm39)	T320A	probably benign	Het
Ppip5k1	G	A	2: 121,147,157 (GRCm39)	R1155C	probably benign	Het
Ppp1r15b	C	T	1: 133,059,382 (GRCm39)		probably benign	Het
Prkn	C	T	17: 11,456,536 (GRCm39)	A119V	probably damaging	Het
Ptprz1	G	T	6: 22,986,133 (GRCm39)	C311F	probably damaging	Het
Rab11fip3	A	T	17: 26,235,038 (GRCm39)	V44E	probably damaging	Het
Rpl5	T	A	5: 108,051,514 (GRCm39)		probably benign	Het
Rttn	G	A	18: 89,066,556 (GRCm39)	V1201I	probably benign	Het
Sdk1	A	G	5: 141,921,853 (GRCm39)	N283S	probably damaging	Het
Shank3	T	A	15: 89,405,529 (GRCm39)	N418K	probably benign	Het
Shmt2	T	C	10: 127,353,668 (GRCm39)	D499G	probably benign	Het
Slc25a46	A	G	18: 31,716,293 (GRCm39)	L403S	probably damaging	Het
Slc5a1	A	G	5: 33,303,955 (GRCm39)	T257A	probably benign	Het
Snrnp35	T	C	5: 124,628,535 (GRCm39)	V116A	probably benign	Het
Spag9	T	A	11: 93,981,538 (GRCm39)	F593I	probably damaging	Het
Tmem171	C	A	13: 98,828,574 (GRCm39)	R192L	probably benign	Het
Trappc3l	T	A	10: 33,978,703 (GRCm39)	L169Q	unknown	Het
Ube2s	T	C	7: 4,811,431 (GRCm39)	E148G	probably damaging	Het
Uspl1	T	C	5: 149,146,521 (GRCm39)	F424S	probably damaging	Het
Vmn1r2	T	C	4: 3,172,261 (GRCm39)	V60A	probably benign	Het
Wdfy4	T	C	14: 32,829,575 (GRCm39)		probably null	Het
Zfp735	C	T	11: 73,602,964 (GRCm39)	S636L	possibly damaging	Het
Zswim9	G	A	7: 12,995,094 (GRCm39)	S354F	probably damaging	Het

Other mutations in Fam8a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00923:Fam8a1	APN	13	46,827,147 (GRCm39)	critical splice donor site	probably null
IGL02067:Fam8a1	APN	13	46,823,324 (GRCm39)	missense	possibly damaging	0.49
IGL02670:Fam8a1	APN	13	46,827,080 (GRCm39)	missense	possibly damaging	0.83
R0626:Fam8a1	UTSW	13	46,824,699 (GRCm39)	missense	probably damaging	1.00
R4594:Fam8a1	UTSW	13	46,824,742 (GRCm39)	missense	probably damaging	1.00
R5155:Fam8a1	UTSW	13	46,827,038 (GRCm39)	missense	probably benign	0.34
R5652:Fam8a1	UTSW	13	46,827,814 (GRCm39)	missense	probably damaging	1.00
R5655:Fam8a1	UTSW	13	46,827,814 (GRCm39)	missense	probably damaging	1.00
R6192:Fam8a1	UTSW	13	46,823,099 (GRCm39)	missense	probably damaging	1.00
R7637:Fam8a1	UTSW	13	46,824,723 (GRCm39)	missense	probably benign	0.02
R8345:Fam8a1	UTSW	13	46,827,054 (GRCm39)	missense	probably damaging	1.00
R8930:Fam8a1	UTSW	13	46,827,868 (GRCm39)	missense	probably benign	0.18
R8932:Fam8a1	UTSW	13	46,827,868 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- TGTAATTAGCACATCCGATGTACC -3'
(R):5'- CTGAGCCCAAGAATGCAAAG -3'

Sequencing Primer
(F):5'- TGAAACTGTGTATCCCAGGC -3'
(R):5'- TGCAAAGAAAATCAGTTCACTTCC -3'

Posted On

2016-11-09