Mutagenetix > Incidental Mutation

Incidental Mutation 'R0764:Fam193a'

72543

Institutional Source

Beutler Lab

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence similarity 193, member A

Synonyms

MMRRC Submission

038944-MU

Accession Numbers

Ncbi RefSeq: NM_001243123.1; MGI:2447768

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R0764 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34369933-34486456 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34443341 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 305 (F305L)

Ref Sequence

ENSEMBL: ENSMUSP00000092463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094867] [ENSMUST00000180376] [ENSMUST00000202503]

AlphaFold

Q8CGI1

Predicted Effect

probably damaging
Transcript: ENSMUST00000094867
AA Change: F305L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: F305L

Domain	Start	End	E-Value	Type
coiled coil region	113	141	N/A	INTRINSIC
low complexity region	258	270	N/A	INTRINSIC
low complexity region	347	368	N/A	INTRINSIC
low complexity region	584	593	N/A	INTRINSIC
low complexity region	608	643	N/A	INTRINSIC
low complexity region	676	691	N/A	INTRINSIC
low complexity region	763	785	N/A	INTRINSIC
low complexity region	819	832	N/A	INTRINSIC
coiled coil region	879	946	N/A	INTRINSIC
low complexity region	980	993	N/A	INTRINSIC
low complexity region	1052	1063	N/A	INTRINSIC
low complexity region	1155	1166	N/A	INTRINSIC
Pfam:FAM193_C	1174	1230	3.5e-33	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180376
AA Change: F591L

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: F591L

Domain	Start	End	E-Value	Type
SCOP:d1gvp__	70	93	4e-3	SMART
coiled coil region	399	427	N/A	INTRINSIC
low complexity region	544	556	N/A	INTRINSIC
low complexity region	633	654	N/A	INTRINSIC
low complexity region	870	879	N/A	INTRINSIC
low complexity region	894	929	N/A	INTRINSIC
low complexity region	962	977	N/A	INTRINSIC
low complexity region	1049	1071	N/A	INTRINSIC
low complexity region	1105	1118	N/A	INTRINSIC
coiled coil region	1165	1232	N/A	INTRINSIC
low complexity region	1266	1279	N/A	INTRINSIC
low complexity region	1338	1349	N/A	INTRINSIC
low complexity region	1441	1452	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201005

Predicted Effect

unknown
Transcript: ENSMUST00000202503
AA Change: F140L

SMART Domains

Protein: ENSMUSP00000143922
Gene: ENSMUSG00000037210
AA Change: F140L

Domain	Start	End	E-Value	Type
coiled coil region	29	57	N/A	INTRINSIC
low complexity region	178	189	N/A	INTRINSIC

Meta Mutation Damage Score

0.0890

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.1%

Validation Efficiency

98% (48/49)

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 110,059,946	Y898N	probably damaging	Het
Acp4	T	C	7: 44,252,314		probably benign	Het
Adipor2	T	C	6: 119,357,254	I332V	probably benign	Het
Ago3	T	A	4: 126,355,092	K555N	possibly damaging	Het
Angpt4	A	G	2: 151,911,284		probably benign	Het
Ano5	G	T	7: 51,537,842		probably benign	Het
Ap3b1	C	T	13: 94,479,879		probably benign	Het
BC025446	T	A	15: 75,220,723	F97Y	probably benign	Het
Cbl	A	T	9: 44,164,152	C399S	probably damaging	Het
Cdkl2	C	A	5: 92,020,277	V353L	probably benign	Het
Celsr3	A	G	9: 108,827,818	Y500C	probably damaging	Het
Cep162	A	G	9: 87,201,745	S1242P	probably damaging	Het
Crhr1	C	T	11: 104,159,326	R66W	probably damaging	Het
Ddx49	T	C	8: 70,297,257	E170G	probably benign	Het
Fam76a	C	T	4: 132,910,699	G198R	probably damaging	Het
Gm43302	T	A	5: 105,280,489	I130F	probably benign	Het
Hectd4	T	A	5: 121,286,769	I745N	possibly damaging	Het
Ina	T	A	19: 47,023,648	*502K	probably null	Het
Kdm1b	A	T	13: 47,068,603	D506V	possibly damaging	Het
Lrrk2	A	G	15: 91,775,046		probably null	Het
Naip5	A	T	13: 100,217,105	D1215E	probably benign	Het
Neb	A	G	2: 52,216,867		probably benign	Het
Nectin2	T	A	7: 19,749,171		probably null	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Olfr1243	A	G	2: 89,527,996	V138A	probably benign	Het
Olfr170	G	T	16: 19,606,432	P79T	probably damaging	Het
Osbp	A	G	19: 11,984,156		probably benign	Het
Otog	A	G	7: 46,300,494	D2460G	probably benign	Het
Pcgf1	T	C	6: 83,079,169	C2R	probably damaging	Het
Per2	C	T	1: 91,429,420	V674M	probably damaging	Het
Pias3	C	T	3: 96,701,295	P218S	probably damaging	Het
Plod3	C	T	5: 136,989,583		probably benign	Het
Purb	C	T	11: 6,475,661	V76M	probably damaging	Het
Ranbp1	C	A	16: 18,240,158	E181*	probably null	Het
Rit2	T	C	18: 31,153,701		probably benign	Het
Rnf103	C	A	6: 71,509,582	T399K	probably damaging	Het
Slc22a13	T	C	9: 119,208,680		probably null	Het
Slc35f4	T	A	14: 49,306,339		probably benign	Het
Sucla2	C	T	14: 73,560,634		probably benign	Het
Tnfrsf17	C	T	16: 11,315,199	T47M	possibly damaging	Het
Tram1	A	G	1: 13,579,709	I97T	probably damaging	Het
Ttc38	T	C	15: 85,846,403		probably benign	Het
Zfp113	T	A	5: 138,145,244	Q248L	probably damaging	Het

Other mutations in Fam193a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01981:Fam193a	APN	5	34431193	missense	probably damaging	0.99
IGL02111:Fam193a	APN	5	34410657	missense	possibly damaging	0.72
IGL02139:Fam193a	APN	5	34444737	missense	probably benign	0.12
IGL02218:Fam193a	APN	5	34443588	missense	possibly damaging	0.68
BB010:Fam193a	UTSW	5	34466195	missense	possibly damaging	0.53
BB020:Fam193a	UTSW	5	34466195	missense	possibly damaging	0.53
P0017:Fam193a	UTSW	5	34440463	missense	probably damaging	1.00
PIT4418001:Fam193a	UTSW	5	34440535	missense	probably damaging	0.97
R0172:Fam193a	UTSW	5	34465613	missense	probably damaging	0.97
R0413:Fam193a	UTSW	5	34466208	missense	possibly damaging	0.83
R0512:Fam193a	UTSW	5	34426391	missense	probably damaging	1.00
R0735:Fam193a	UTSW	5	34439378	missense	possibly damaging	0.85
R0904:Fam193a	UTSW	5	34462143	missense	probably damaging	1.00
R1756:Fam193a	UTSW	5	34466292	missense	possibly damaging	0.91
R1765:Fam193a	UTSW	5	34436497	missense	probably damaging	0.99
R1766:Fam193a	UTSW	5	34462131	missense	probably damaging	0.99
R1845:Fam193a	UTSW	5	34443372	missense	possibly damaging	0.91
R2051:Fam193a	UTSW	5	34462150	missense	probably benign	0.19
R2483:Fam193a	UTSW	5	34465758	missense	possibly damaging	0.96
R3014:Fam193a	UTSW	5	34465672	missense	probably benign	0.33
R4523:Fam193a	UTSW	5	34443371	missense	probably benign	0.07
R4723:Fam193a	UTSW	5	34420786	missense	probably benign	0.04
R4823:Fam193a	UTSW	5	34459028	missense	probably damaging	1.00
R4826:Fam193a	UTSW	5	34436531	missense	probably damaging	1.00
R4863:Fam193a	UTSW	5	34466205	missense	possibly damaging	0.86
R5331:Fam193a	UTSW	5	34465571	splice site	probably null
R5364:Fam193a	UTSW	5	34466253	missense	probably benign	0.01
R5564:Fam193a	UTSW	5	34420855	missense	probably damaging	0.98
R5580:Fam193a	UTSW	5	34420788	missense	probably benign	0.33
R5784:Fam193a	UTSW	5	34466223	missense	probably damaging	0.99
R5933:Fam193a	UTSW	5	34465680	missense	probably damaging	0.98
R5949:Fam193a	UTSW	5	34440472	missense	possibly damaging	0.82
R6106:Fam193a	UTSW	5	34459030	missense	possibly damaging	0.67
R6181:Fam193a	UTSW	5	34443540	splice site	probably null
R7095:Fam193a	UTSW	5	34458034	missense	probably damaging	0.99
R7109:Fam193a	UTSW	5	34465821	missense	possibly damaging	0.86
R7344:Fam193a	UTSW	5	34485730	missense	possibly damaging	0.71
R7401:Fam193a	UTSW	5	34465635	missense	possibly damaging	0.72
R7453:Fam193a	UTSW	5	34464116	missense	possibly damaging	0.72
R7456:Fam193a	UTSW	5	34420788	missense	possibly damaging	0.86
R7648:Fam193a	UTSW	5	34431182	missense	probably damaging	0.99
R7768:Fam193a	UTSW	5	34465791	missense	possibly damaging	0.85
R7783:Fam193a	UTSW	5	34431180	missense	probably damaging	0.99
R7818:Fam193a	UTSW	5	34465653	missense	possibly damaging	0.72
R7852:Fam193a	UTSW	5	34410817	missense	probably benign	0.01
R7853:Fam193a	UTSW	5	34440129	missense	probably benign	0.12
R7894:Fam193a	UTSW	5	34440533	missense	possibly damaging	0.92
R7933:Fam193a	UTSW	5	34466195	missense	possibly damaging	0.53
R7957:Fam193a	UTSW	5	34462086	missense	probably damaging	1.00
R8191:Fam193a	UTSW	5	34440573	missense	probably damaging	0.96
R8281:Fam193a	UTSW	5	34443436	missense	unknown
R8554:Fam193a	UTSW	5	34475771	missense	probably benign	0.05
R8743:Fam193a	UTSW	5	34420157	critical splice donor site	probably null
R8821:Fam193a	UTSW	5	34459030	missense	probably benign	0.01
R8831:Fam193a	UTSW	5	34459030	missense	probably benign	0.01
R8896:Fam193a	UTSW	5	34426484	missense	probably benign	0.03
R8943:Fam193a	UTSW	5	34440452	missense	probably benign	0.01
R9026:Fam193a	UTSW	5	34459192	missense	possibly damaging	0.91
R9182:Fam193a	UTSW	5	34466017	missense	possibly damaging	0.72
R9210:Fam193a	UTSW	5	34440137	missense	probably benign	0.01
R9212:Fam193a	UTSW	5	34440137	missense	probably benign	0.01
R9291:Fam193a	UTSW	5	34436491	missense	probably damaging	1.00
R9515:Fam193a	UTSW	5	34458027	missense	possibly damaging	0.86
Z1088:Fam193a	UTSW	5	34420895	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGAACACTCTTCGTGAGCAGACC -3'
(R):5'- ACCTGAGGGGACTTAAAATGCAGC -3'

Sequencing Primer
(F):5'- GTGAGCAGACCCATGACCTTAG -3'
(R):5'- GGGACTTAAAATGCAGCATTCTG -3'

Posted On

2013-09-30