Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02218:Fam193a'

285015

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence similarity 193, member A

Synonyms

Accession Numbers

Ncbi RefSeq: NM_001243123.1; MGI:2447768

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

IGL02218

Quality Score

Status

Chromosome

Chromosomal Location

34369933-34486456 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34443588 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 346 (V346L)

Ref Sequence

ENSEMBL: ENSMUSP00000092463 (fasta)

Gene Model

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

AlphaFold

Q8CGI1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094867
AA Change: V346L

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: V346L

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: V632L

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: V632L

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: V181L

SMART Domains

Protein: ENSMUSP00000143922
Gene: ENSMUSG00000037210
AA Change: V181L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730409E04Rik	A	G	4: 126,612,045	D122G	probably benign	Het
Abcc8	T	C	7: 46,120,436	D885G	probably benign	Het
Abcf1	T	C	17: 35,958,338	K676R	probably benign	Het
Acsf2	A	G	11: 94,601,763	V3A	probably benign	Het
Apba2	C	T	7: 64,695,677	T205I	probably benign	Het
Bricd5	C	A	17: 24,475,322	Y171*	probably null	Het
Camk2d	T	G	3: 126,840,153	N441K	probably benign	Het
Carm1	T	C	9: 21,569,512	V94A	probably damaging	Het
Chd3	C	T	11: 69,352,094		probably benign	Het
Cipc	A	G	12: 86,961,928	N166S	probably damaging	Het
Cln5	A	C	14: 103,075,840		probably null	Het
Cnbd1	C	A	4: 18,887,739	Q258H	probably benign	Het
Cyp8b1	A	G	9: 121,915,117	L383P	probably damaging	Het
Dok3	A	G	13: 55,523,786	L324P	probably damaging	Het
Eftud2	A	T	11: 102,870,213	F102Y	possibly damaging	Het
Ewsr1	G	A	11: 5,070,668	P551S	unknown	Het
Fam46b	C	T	4: 133,486,151	A111V	probably damaging	Het
Golim4	A	G	3: 75,878,054	S677P	probably damaging	Het
Gpr149	A	G	3: 62,530,531		probably benign	Het
Ins1	A	T	19: 52,264,683	K20N	probably benign	Het
Itpr2	A	T	6: 146,240,262		probably benign	Het
Jup	G	A	11: 100,381,839	T249I	probably damaging	Het
Kctd20	T	A	17: 28,957,903	N2K	probably benign	Het
Kif15	A	G	9: 122,995,827		probably benign	Het
Klrb1-ps1	T	C	6: 129,129,306		noncoding transcript	Het
Krtap29-1	T	C	11: 99,979,058		probably null	Het
Lamb3	A	T	1: 193,328,633		probably null	Het
Large1	A	G	8: 72,912,122	W276R	probably damaging	Het
Lrp1b	T	C	2: 41,295,672	N603D	probably benign	Het
Lrrc37a	A	G	11: 103,500,381	V1406A	probably benign	Het
Lrrc74a	A	G	12: 86,749,048	D265G	probably benign	Het
Lrrfip2	G	A	9: 111,219,725	C250Y	probably benign	Het
Mbtd1	A	G	11: 93,931,803		probably benign	Het
Msr1	A	G	8: 39,589,316	V406A	possibly damaging	Het
Mtfr1l	C	T	4: 134,529,180	D225N	probably benign	Het
Nckap1l	T	A	15: 103,483,527	S796R	possibly damaging	Het
Oaf	T	A	9: 43,224,922	H119L	probably benign	Het
Olfr464	A	T	11: 87,914,063	M281K	probably damaging	Het
Pik3c2g	A	T	6: 139,860,355	H516L	probably damaging	Het
Pkd1l3	A	T	8: 109,660,802	I1793F	possibly damaging	Het
Ptpra	A	G	2: 130,552,335		probably benign	Het
Slc25a27	C	T	17: 43,664,073		probably null	Het
Slc2a2	A	T	3: 28,698,025	E3D	possibly damaging	Het
Slc35f5	T	C	1: 125,584,555	F14S	probably damaging	Het
Sspn	T	C	6: 145,961,386	V105A	probably damaging	Het
Syvn1	T	C	19: 6,050,199	I263T	probably damaging	Het
Tek	A	C	4: 94,855,337	D863A	probably damaging	Het
Tm9sf4	G	T	2: 153,204,616	V592F	probably benign	Het
Tmem259	A	G	10: 79,978,317	M354T	possibly damaging	Het
Ttf2	T	C	3: 100,964,093	E84G	possibly damaging	Het
Ttyh3	T	C	5: 140,626,491	E487G	probably damaging	Het
Ubtf	C	A	11: 102,306,700	E709*	probably null	Het
Vmn1r119	T	C	7: 21,011,636	R274G	probably benign	Het
Wdr78	A	G	4: 103,096,774	V76A	probably damaging	Het
Zfp804a	A	G	2: 82,259,202	Q1125R	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
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
R0764:Fam193a	UTSW	5	34443341	missense	probably damaging	0.99
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

Posted On

2015-04-16