Mutagenetix > Incidental Mutations

Incidental Mutation 'R5528:Fam102a'

433509

Institutional Source

Beutler Lab

Gene Symbol

Fam102a

Ensembl Gene

ENSMUSG00000039157

Gene Name

family with sequence similarity 102, member A

Synonyms

C230093N12Rik

MMRRC Submission

043086-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.341) question?

Stock #

R5528 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32535332-32569756 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32566327 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 334 (A334T)

Ref Sequence

ENSEMBL: ENSMUSP00000044731 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028151] [ENSMUST00000048375] [ENSMUST00000140592]

Predicted Effect

probably benign
Transcript: ENSMUST00000028151

SMART Domains

Protein: ENSMUSP00000028151
Gene: ENSMUSG00000026810

Domain	Start	End	E-Value	Type
Pfam:DPM2	5	80	4.2e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000048375
AA Change: A334T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000044731
Gene: ENSMUSG00000039157
AA Change: A334T

Domain	Start	End	E-Value	Type
Pfam:NT-C2	6	152	4.8e-32	PFAM
low complexity region	177	194	N/A	INTRINSIC
low complexity region	262	273	N/A	INTRINSIC
low complexity region	283	309	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128039

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136816

Predicted Effect

probably benign
Transcript: ENSMUST00000140592

SMART Domains

Protein: ENSMUSP00000124665
Gene: ENSMUSG00000026810

Domain	Start	End	E-Value	Type
Pfam:DPM2	5	68	3e-30	PFAM

Coding Region Coverage

1x: 98.6%
3x: 97.4%
10x: 95.4%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,066,499	L483P	probably benign	Het
1700025F22Rik	T	C	19: 11,141,635	S37G	possibly damaging	Het
3110043O21Rik	T	C	4: 35,213,556	D198G	probably benign	Het
4930519G04Rik	T	G	5: 114,874,354		probably null	Het
Ablim2	C	T	5: 35,856,166	Q148*	probably null	Het
Ap3s2	A	T	7: 79,880,486	*194R	probably null	Het
Arpp21	C	T	9: 112,149,353	A235T	probably benign	Het
Ccdc33	T	C	9: 58,028,795	D939G	probably benign	Het
Celsr2	A	T	3: 108,413,294	I734N	probably damaging	Het
Clcn1	C	A	6: 42,300,341	N455K	probably benign	Het
Cpne8	C	T	15: 90,619,690	V91I	possibly damaging	Het
Ddx1	A	G	12: 13,229,294	V448A	probably damaging	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Eif2a	G	T	3: 58,548,512	D311Y	probably damaging	Het
Eif2ak4	G	A	2: 118,427,938	E512K	probably damaging	Het
Esp15	A	T	17: 39,644,749	Y69F	probably benign	Het
Gm5689	A	G	18: 42,173,662		probably null	Het
Gucy1a1	A	T	3: 82,109,073	Y203N	probably damaging	Het
Hook3	T	C	8: 26,072,293	Q248R	probably damaging	Het
Ifit2	T	A	19: 34,573,537	V159E	possibly damaging	Het
Il17rd	T	C	14: 27,088,067	V20A	possibly damaging	Het
Kcnq3	T	A	15: 66,025,178	D291V	probably damaging	Het
Klf11	A	T	12: 24,654,930	M111L	probably benign	Het
Lama5	T	A	2: 180,194,563	H1165L	probably benign	Het
Lmo7	A	G	14: 101,902,086	N702S	probably damaging	Het
Lta4h	T	C	10: 93,471,874	V323A	probably damaging	Het
Mkrn3	T	C	7: 62,418,987	E352G	possibly damaging	Het
Mtf2	T	A	5: 108,094,157	L277Q	probably damaging	Het
Myo9b	A	G	8: 71,323,274	N370D	probably benign	Het
Nlrp4e	A	C	7: 23,336,891	K723T	probably benign	Het
Nsun3	A	G	16: 62,735,326	V279A	possibly damaging	Het
Pde6b	A	G	5: 108,423,558	D459G	probably benign	Het
Phgdh	T	C	3: 98,328,339	I121V	probably benign	Het
Pik3r5	T	C	11: 68,495,977	C811R	probably damaging	Het
Spaca6	A	C	17: 17,831,082	I27L	probably benign	Het
Trmt1l	G	A	1: 151,454,995	V588I	probably benign	Het
Tshr	A	G	12: 91,537,193	N302D	probably damaging	Het
Vmn2r23	A	G	6: 123,713,002	D279G	probably damaging	Het
Wnt3a	T	C	11: 59,275,280	N58S	probably damaging	Het
Zkscan8	A	G	13: 21,520,725	V276A	probably damaging	Het

Other mutations in Fam102a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01870:Fam102a	APN	2	32566282	missense	probably benign	0.01
IGL02289:Fam102a	APN	2	32566355	missense	possibly damaging	0.87
R0051:Fam102a	UTSW	2	32558053	missense	possibly damaging	0.87
R0051:Fam102a	UTSW	2	32558053	missense	possibly damaging	0.87
R1387:Fam102a	UTSW	2	32565623	missense	possibly damaging	0.92
R1887:Fam102a	UTSW	2	32560128	missense	possibly damaging	0.63
R3732:Fam102a	UTSW	2	32566292	missense	probably benign	0.00
R6058:Fam102a	UTSW	2	32560090	missense	probably benign	0.05
R7241:Fam102a	UTSW	2	32558064	missense	probably benign	0.45
R7623:Fam102a	UTSW	2	32566334	missense	possibly damaging	0.66
R8169:Fam102a	UTSW	2	32563748	missense	probably benign	0.22
R8176:Fam102a	UTSW	2	32563612	missense	probably benign	0.20

Predicted Primers

PCR Primer
(F):5'- TCCCCTGAGATGAATGAGGTG -3'
(R):5'- TACCTGTTGCCCAGCTGAATG -3'

Sequencing Primer
(F):5'- TGGCTAAAGTGAAGTGCATAATG -3'
(R):5'- AGCTGAATGCCGCTCAGTG -3'

Posted On

2016-10-06