Mutagenetix > Incidental Mutation

Incidental Mutation 'R4523:Fam193a'

334298

Institutional Source

Beutler Lab

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence similarity 193, member A

Synonyms

MMRRC Submission

042004-MU

Accession Numbers

Ncbi RefSeq: NM_001243123.1; MGI:2447768

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R4523 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34369933-34486456 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34443371 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 601 (D601N)

Ref Sequence

ENSEMBL: ENSMUSP00000138082 (fasta)

Gene Model

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

AlphaFold

Q8CGI1

Predicted Effect

probably benign
Transcript: ENSMUST00000094867
AA Change: D315N

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: D315N

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 benign
Transcript: ENSMUST00000180376
AA Change: D601N

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: D601N

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: D150N

SMART Domains

Protein: ENSMUSP00000143922
Gene: ENSMUSG00000037210
AA Change: D150N

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

0.0807

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (61/61)

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8a1	G	T	5: 67,667,600	T796K	probably benign	Het
Atr	T	C	9: 95,862,863	S78P	probably damaging	Het
BC017643	A	G	11: 121,224,108		probably benign	Het
Calb2	C	T	8: 110,148,509		probably null	Het
Ccdc88c	G	T	12: 100,913,332	S1843R	possibly damaging	Het
Cdca7	A	G	2: 72,479,698	S77G	probably damaging	Het
Cnot2	C	T	10: 116,581,474		probably benign	Het
Cstf2t	T	A	19: 31,083,082	V6D	possibly damaging	Het
Dido1	T	C	2: 180,672,292	I852V	probably damaging	Het
Dmgdh	C	T	13: 93,688,630	Q154*	probably null	Het
Dnah12	G	A	14: 26,876,958	A998T	possibly damaging	Het
Dnah12	T	C	14: 26,770,022	F1138S	probably damaging	Het
Dusp5	T	G	19: 53,537,601	Y225D	probably damaging	Het
Fam122c	G	A	X: 53,293,499	R94H	possibly damaging	Het
Fam126a	T	C	5: 23,965,122	T410A	probably benign	Het
Fbxo41	A	G	6: 85,484,042	I228T	probably damaging	Het
Fmo2	T	C	1: 162,887,708	K115R	probably benign	Het
Gak	G	T	5: 108,576,566	Q1093K	probably benign	Het
Gm5277	G	T	3: 78,892,186		noncoding transcript	Het
Gm7173	A	T	X: 79,509,995	N291K	possibly damaging	Het
Hgsnat	A	G	8: 25,968,361		probably null	Het
Map3k3	G	A	11: 106,148,868	R278H	probably damaging	Het
Mrvi1	T	C	7: 110,923,841	M338V	probably benign	Het
Muc4	T	C	16: 32,736,336		probably benign	Het
Nectin3	C	A	16: 46,448,590	R483L	probably benign	Het
Nop2	G	T	6: 125,133,552	R47L	probably damaging	Het
Ntng1	A	G	3: 109,934,996	S154P	probably damaging	Het
Olfml2b	T	C	1: 170,669,222	I474T	probably benign	Het
Olfr1054	C	G	2: 86,333,300	D19H	probably benign	Het
Olfr843	T	C	9: 19,249,229	T57A	probably damaging	Het
Optc	G	T	1: 133,903,754	T138K	possibly damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pard3	C	T	8: 127,398,627	P421S	probably benign	Het
Pcdhb22	G	T	18: 37,520,421	E647D	probably benign	Het
Pclo	A	G	5: 14,679,992		probably benign	Het
Prkce	G	T	17: 86,490,750		probably null	Het
Prr12	T	C	7: 45,048,523	D656G	unknown	Het
Ptprk	A	T	10: 28,466,052	D485V	probably damaging	Het
Ptprn2	T	C	12: 116,876,000	L381P	probably damaging	Het
Rnf144b	T	C	13: 47,207,537	I51T	probably benign	Het
Rpl10l	T	C	12: 66,283,738	D207G	probably benign	Het
Sh3glb2	A	T	2: 30,350,699	V118E	probably damaging	Het
Sipa1l2	C	T	8: 125,492,424	G58D	probably damaging	Het
Slc5a4a	C	T	10: 76,148,362	A46V	probably damaging	Het
Tepp	T	A	8: 95,313,010	Y18*	probably null	Het
Tgm7	C	A	2: 121,098,588		probably null	Het
Tjap1	A	G	17: 46,258,792	V424A	probably benign	Het
Trpm6	A	T	19: 18,796,500	I414F	probably damaging	Het
Tsr3	C	G	17: 25,241,749	D196E	probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vmn2r72	T	A	7: 85,751,926	H95L	probably benign	Het
Vmn2r97	T	A	17: 18,929,071	N240K	probably benign	Het
Xdh	C	A	17: 73,898,344	G1042V	probably damaging	Het
Zcchc4	A	G	5: 52,784,067	D68G	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
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
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'- AGTGACACTGAACACTCTTCG -3'
(R):5'- AATGCAGCATTCTGTAGCTTTC -3'

Sequencing Primer
(F):5'- TGAACACTCTTCGTGAGCAG -3'
(R):5'- GCAGCATTCTGTAGCTTTCATTTTC -3'

Posted On

2015-08-18