Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01981:Fam193a'

183467

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

Is this an essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

IGL01981

Quality Score

Status

Chromosome

Chromosomal Location

34369933-34486456 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34431193 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 76 (E76G)

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: E76G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: E76G

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

probably damaging
Transcript: ENSMUST00000180376
AA Change: E362G

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: E362G

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: ENSMUST00000202503

SMART Domains

Protein: ENSMUSP00000143922
Gene: ENSMUSG00000037210

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	C	T	17: 33,067,654	G58E	probably damaging	Het
Akt2	A	C	7: 27,638,074	D417A	probably benign	Het
Ap1b1	T	A	11: 5,019,336	S231T	possibly damaging	Het
Arhgap31	G	A	16: 38,601,573	T1377I	probably damaging	Het
Cdkl3	A	G	11: 52,005,069	T48A	probably benign	Het
Chd3	T	C	11: 69,360,675	Y510C	probably damaging	Het
Chml	A	G	1: 175,688,185	S57P	probably damaging	Het
Cpxm1	G	T	2: 130,394,140	C367*	probably null	Het
D930020B18Rik	A	G	10: 121,692,414	T428A	probably damaging	Het
Dnaja3	A	T	16: 4,701,169	I325F	probably damaging	Het
Erbb3	A	G	10: 128,571,650	V943A	probably benign	Het
Fam110b	A	G	4: 5,799,481	I300V	probably benign	Het
Fbxl3	G	A	14: 103,095,464	T26M	possibly damaging	Het
Furin	A	G	7: 80,392,899	L380P	probably damaging	Het
Fxr2	A	C	11: 69,650,502	I354L	possibly damaging	Het
Garnl3	G	T	2: 32,997,729	N756K	probably damaging	Het
Gimap1	A	G	6: 48,743,324	Y290C	probably damaging	Het
Gm11639	A	T	11: 104,721,432		probably benign	Het
Gm5592	G	A	7: 41,286,371	W99*	probably null	Het
Hexdc	G	T	11: 121,216,993	S183I	possibly damaging	Het
Hmg20a	C	T	9: 56,477,230	P95S	probably damaging	Het
Jhy	A	T	9: 40,895,546	I769N	probably damaging	Het
Lrrd1	G	T	5: 3,851,267	C524F	probably damaging	Het
Musk	C	A	4: 58,296,629	S76R	probably damaging	Het
Myom3	C	T	4: 135,785,849	R613*	probably null	Het
Naa16	T	A	14: 79,381,516	E172D	probably benign	Het
Obox6	A	T	7: 15,834,921	M10K	possibly damaging	Het
Olfr1039	A	T	2: 86,130,830	Y278N	probably benign	Het
Pam	C	T	1: 97,834,441	V700M	probably damaging	Het
Pkd1l2	C	A	8: 117,016,916	R1978L	probably benign	Het
Pkhd1	T	A	1: 20,523,567	T1441S	possibly damaging	Het
Plg	A	G	17: 12,403,047		probably benign	Het
Pot1a	A	G	6: 25,750,100	L521P	probably damaging	Het
Pramef17	G	A	4: 143,994,354	P6S	probably damaging	Het
Ptprj	A	T	2: 90,439,912	V1280E	probably damaging	Het
Rcbtb2	T	C	14: 73,164,782	S136P	possibly damaging	Het
Rtl1	C	T	12: 109,591,935	E1157K	possibly damaging	Het
Sell	G	A	1: 164,065,626	R137Q	probably benign	Het
Shisa9	A	T	16: 12,244,658	M248L	probably benign	Het
Spag17	A	G	3: 100,058,833	E1144G	probably benign	Het
Sphk2	G	T	7: 45,710,733	Q616K	probably benign	Het
Tecrl	T	C	5: 83,294,606	T207A	probably benign	Het
Ubr5	T	C	15: 37,996,598	T1885A	probably benign	Het
Usp24	T	C	4: 106,375,768		probably benign	Het
Usp32	A	G	11: 85,036,524	M622T	probably benign	Het
Vangl1	A	G	3: 102,184,291	F160L	probably damaging	Het
Vps13d	T	C	4: 145,086,747	S3289G	probably damaging	Het
Wdfy4	A	G	14: 33,133,716	F647S	probably damaging	Het
Wdhd1	A	G	14: 47,261,450	L509P	probably damaging	Het
Zcchc2	A	G	1: 106,027,499	E640G	probably damaging	Het
Zfp563	T	A	17: 33,105,409	I326N	probably benign	Het

Other mutations in Fam193a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2014-05-07