Mutagenetix > Incidental Mutations

Incidental Mutation 'R0621:Fam81a'

58675

Institutional Source

Beutler Lab

Gene Symbol

Fam81a

Ensembl Gene

ENSMUSG00000032224

Gene Name

family with sequence similarity 81, member A

Synonyms

MMRRC Submission

038810-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R0621 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70088511-70142560 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70093647 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 272 (Q272K)

Ref Sequence

ENSEMBL: ENSMUSP00000034749 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034749]

Predicted Effect

probably benign
Transcript: ENSMUST00000034749
AA Change: Q272K

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034749
Gene: ENSMUSG00000032224
AA Change: Q272K

Domain	Start	End	E-Value	Type
coiled coil region	75	106	N/A	INTRINSIC
coiled coil region	158	187	N/A	INTRINSIC
low complexity region	349	358	N/A	INTRINSIC

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	T	C	11: 76,509,072	D33G	probably damaging	Het
Adgre1	T	A	17: 57,441,359	S520T	probably damaging	Het
Ankrd40	A	G	11: 94,339,607		probably null	Het
Aph1b	A	T	9: 66,779,334	I177K	possibly damaging	Het
Armc3	A	T	2: 19,295,393	N579I	probably damaging	Het
Atxn7l1	T	C	12: 33,326,100	V131A	probably benign	Het
C130073F10Rik	A	G	4: 101,890,795	Y61H	probably damaging	Het
C1s2	A	T	6: 124,631,112	L214Q	probably damaging	Het
Caprin2	A	T	6: 148,858,678	S425T	possibly damaging	Het
Cdc42ep4	G	A	11: 113,728,696	R290C	probably damaging	Het
Cenpf	T	C	1: 189,672,628	T352A	probably benign	Het
Col6a4	A	T	9: 106,066,791	F1161L	probably damaging	Het
Dctn2	T	C	10: 127,277,940		probably null	Het
Ddx24	T	C	12: 103,425,558		probably benign	Het
Dsg1c	C	A	18: 20,279,695	A591D	possibly damaging	Het
Efnb3	T	C	11: 69,555,972	D304G	probably damaging	Het
Erbb3	T	C	10: 128,586,225	Y50C	probably benign	Het
Eya3	T	G	4: 132,694,802	D275E	probably benign	Het
Foxf1	T	C	8: 121,085,180	V261A	probably damaging	Het
Gm9637	G	A	14: 19,402,011		noncoding transcript	Het
Gnb4	C	T	3: 32,591,207	V112I	probably benign	Het
Gtf2h2	A	T	13: 100,488,925	L61Q	probably damaging	Het
Hey2	T	A	10: 30,834,386	I124F	probably benign	Het
Hoxb3	A	T	11: 96,345,963	Y289F	probably damaging	Het
Kctd3	C	T	1: 188,981,341	R399Q	probably damaging	Het
Kif26b	C	G	1: 178,915,653	P1105A	probably benign	Het
Klhl30	C	T	1: 91,357,863	T369M	probably damaging	Het
Lipo2	C	T	19: 33,730,939	G225D	probably damaging	Het
Macf1	T	C	4: 123,380,534	K6350E	probably damaging	Het
Myh13	A	C	11: 67,341,232	N446T	probably damaging	Het
Nos1ap	T	C	1: 170,318,581	D468G	probably damaging	Het
Olfr1250	C	A	2: 89,657,115	E109*	probably null	Het
Olfr418	C	T	1: 173,270,675	P167S	possibly damaging	Het
Olfr746	G	A	14: 50,653,962	G242R	possibly damaging	Het
Pde3a	T	C	6: 141,249,999	L137P	probably damaging	Het
Ppm1f	G	A	16: 16,915,308	R233Q	probably benign	Het
Rtf2	C	A	2: 172,466,296	A205E	possibly damaging	Het
Sh2d5	T	C	4: 138,258,318	F359S	probably benign	Het
Siglec1	G	A	2: 131,074,268	T1254M	probably benign	Het
Slc39a11	G	A	11: 113,464,079	P108L	probably benign	Het
Slc6a5	G	A	7: 49,917,365		probably null	Het
Snph	C	T	2: 151,593,722	V360M	probably damaging	Het
Snx29	A	G	16: 11,405,787		probably null	Het
Sos1	A	G	17: 80,451,979		probably null	Het
Spata5	C	T	3: 37,432,029	T300I	probably benign	Het
St8sia6	T	A	2: 13,657,282	N246I	probably damaging	Het
Thy1	T	A	9: 44,046,733	F53I	probably damaging	Het
Tle3	T	A	9: 61,410,105	Y421*	probably null	Het
Ttc21b	C	T	2: 66,226,011	R677Q	probably benign	Het
Vmn2r107	A	T	17: 20,374,990	I602F	probably benign	Het
Wdr17	C	A	8: 54,643,191	G1016C	probably benign	Het
Wdr62	T	C	7: 30,254,061	E182G	possibly damaging	Het
Zfp597	A	G	16: 3,866,364	I176T	probably benign	Het

Other mutations in Fam81a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Fam81a	APN	9	70099152	nonsense	probably null
IGL02010:Fam81a	APN	9	70099137	missense	probably benign	0.04
IGL02891:Fam81a	APN	9	70110276	missense	probably damaging	1.00
R0100:Fam81a	UTSW	9	70102809	splice site	probably benign
R0497:Fam81a	UTSW	9	70096119	missense	possibly damaging	0.47
R1075:Fam81a	UTSW	9	70110274	nonsense	probably null
R1524:Fam81a	UTSW	9	70125108	missense	probably damaging	1.00
R4970:Fam81a	UTSW	9	70093590	nonsense	probably null
R5138:Fam81a	UTSW	9	70099175	missense	probably benign	0.01
R5209:Fam81a	UTSW	9	70125160	missense	probably benign	0.06
R6139:Fam81a	UTSW	9	70102818	critical splice donor site	probably null
R6378:Fam81a	UTSW	9	70110346	missense	probably damaging	1.00
R7145:Fam81a	UTSW	9	70110278	missense	probably damaging	1.00
R8030:Fam81a	UTSW	9	70102909	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- CGTGCCTCACATGTACACGAACAG -3'
(R):5'- TGGATACGGGATGGATAACCAGCC -3'

Sequencing Primer
(F):5'- gagtatagttccctggtagcac -3'
(R):5'- TGGATAACCAGCCACTGTGATTC -3'

Posted On

2013-07-11