Mutagenetix > Incidental Mutation

Incidental Mutation 'R8554:Fam193a'

660012

Institutional Source

Beutler Lab

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence similarity 193, member A

Synonyms

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_001243123.1; MGI:2447768

Is this an essential gene?

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

Stock #

R8554 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34369933-34486456 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34475771 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 122 (M122K)

Ref Sequence

ENSEMBL: ENSMUSP00000137979 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094867] [ENSMUST00000180376] [ENSMUST00000181379]

AlphaFold

Q8CGI1

Predicted Effect

probably benign
Transcript: ENSMUST00000094867
AA Change: M1189K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: M1189K

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: M1475K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: M1475K

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: ENSMUST00000181379
AA Change: M122K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000137979
Gene: ENSMUSG00000037210
AA Change: M122K

Domain	Start	End	E-Value	Type
low complexity region	88	99	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,296,897	Y94N	possibly damaging	Het
Adtrp	G	A	13: 41,816,160	T89I	possibly damaging	Het
Apc	T	C	18: 34,312,946	V947A	probably damaging	Het
Apob	A	C	12: 7,987,830	K334N	probably damaging	Het
BC048403	T	A	10: 121,740,055	I27N	probably benign	Het
Camk2d	A	T	3: 126,770,799	Q119L	possibly damaging	Het
Ccdc60	A	T	5: 116,190,112	F98I	probably damaging	Het
Cd47	A	G	16: 49,867,941	T22A	probably benign	Het
Crat	A	G	2: 30,410,023	V115A	probably benign	Het
Csmd3	T	C	15: 47,644,142	M2992V	probably benign	Het
Dsg4	T	A	18: 20,453,043	N263K	probably damaging	Het
Eln	A	C	5: 134,710,110		probably benign	Het
Ep300	A	G	15: 81,639,027	E1284G	unknown	Het
Fam46a	T	C	9: 85,326,731	D13G	possibly damaging	Het
Fam57a	A	G	11: 76,205,418	H124R	probably damaging	Het
Fcgr1	A	T	3: 96,292,472	W40R	probably damaging	Het
Gm3486	T	A	14: 41,487,162	Q84L	probably damaging	Het
Gm9513	A	G	9: 36,476,492	I25V	probably benign	Het
Golga2	G	A	2: 32,293,345	D80N	probably damaging	Het
Isg20	T	C	7: 78,916,677	Y125H	probably benign	Het
Kdf1	A	G	4: 133,528,877	I302V	probably damaging	Het
Krt33a	T	A	11: 100,012,383	T278S	possibly damaging	Het
Lrp1b	T	A	2: 41,344,483	Q1038L	probably benign	Het
March6	G	A	15: 31,482,830	H476Y	probably damaging	Het
Myom1	A	G	17: 71,036,453	E215G	possibly damaging	Het
Olfr1228	T	C	2: 89,249,251	T148A	possibly damaging	Het
Olfr132	T	A	17: 38,130,598	Q198L	probably damaging	Het
Olfr223	A	T	11: 59,589,486	L201Q	possibly damaging	Het
Pdlim2	T	A	14: 70,171,249	T173S	probably benign	Het
Pitpnb	T	C	5: 111,346,506	M74T	probably benign	Het
Pou2f2	C	A	7: 25,115,556		probably benign	Het
Rab35	A	C	5: 115,645,631		probably null	Het
Rasef	A	T	4: 73,727,607	D508E	probably benign	Het
Rev3l	T	C	10: 39,806,842	S319P	probably benign	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rgl3	A	G	9: 21,988,863	S44P	probably benign	Het
Rnf214	C	A	9: 45,867,499		probably null	Het
Rpsa	T	C	9: 120,129,251	V76A	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,923		probably benign	Het
Senp7	T	C	16: 56,158,610	V529A	probably benign	Het
Siglecg	C	T	7: 43,408,896	S69L	probably benign	Het
Sos1	G	T	17: 80,398,413	T1243K	probably damaging	Het
Tmc2	A	G	2: 130,264,164	T872A	probably benign	Het
Tnfrsf8	A	C	4: 145,296,941	C107W	probably damaging	Het
Tnn	T	C	1: 160,110,416	Y913C	probably damaging	Het
Ttn	T	C	2: 76,738,032	T19179A	probably damaging	Het
Usp42	T	A	5: 143,720,382	K294N	probably damaging	Het
Vmn1r123	T	A	7: 21,163,046	C288S	probably benign	Het
Vmn1r29	T	A	6: 58,308,206	*304K	probably null	Het
Vmn2r1	T	C	3: 64,089,913	I330T	probably damaging	Het
Vmn2r16	A	G	5: 109,364,131	I735V	probably benign	Het
Vmn2r65	T	C	7: 84,946,752	I241M	probably benign	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
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
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'- AGGTAGTCACAAGAGCAGTCTG -3'
(R):5'- TGCTCTTTGAACACATGGACAC -3'

Sequencing Primer
(F):5'- AAGAGCAGTCTGCCCTCCTG -3'
(R):5'- GCTCTTTGAACACATGGACACTGATG -3'

Posted On

2021-01-18