Mutagenetix > Incidental Mutation

Incidental Mutation 'R3014:Fam193a'

257591

Institutional Source

Beutler Lab

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence homology 193, member A

Synonyms

MMRRC Submission

040535-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R3014 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34527277-34643800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34623016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1201 (E1201D)

Ref Sequence

ENSEMBL: ENSMUSP00000138082 (fasta)

Gene Model

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

AlphaFold

Q8CGI1

Predicted Effect

probably benign
Transcript: ENSMUST00000094867
AA Change: E915D

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: E915D

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: E1201D

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: E1201D

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

SMART Domains

Protein: ENSMUSP00000137979
Gene: ENSMUSG00000037210

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201811

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Angpt4	G	T	2: 151,771,517 (GRCm39)	V278L	probably benign	Het
Dmbt1	A	G	7: 130,633,827 (GRCm39)		probably benign	Het
Dnah2	A	T	11: 69,321,304 (GRCm39)	N3921K	probably benign	Het
Duxf4	G	A	10: 58,071,356 (GRCm39)	T286I	possibly damaging	Het
Gm10220	G	C	5: 26,322,826 (GRCm39)	D195E	probably damaging	Het
Gmps	A	G	3: 63,922,857 (GRCm39)	K607E	possibly damaging	Het
Gprin1	T	A	13: 54,886,288 (GRCm39)	D662V	probably benign	Het
Gria4	A	G	9: 4,464,294 (GRCm39)	I556T	probably damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Hcar2	A	T	5: 124,002,768 (GRCm39)	V245E	probably damaging	Het
Hmces	T	G	6: 87,894,823 (GRCm39)	D62E	probably benign	Het
Ighv1-4	T	A	12: 114,450,769 (GRCm39)	Y113F	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kng1	C	T	16: 22,898,120 (GRCm39)	H507Y	possibly damaging	Het
Lypd10	A	G	7: 24,412,821 (GRCm39)	I76M	possibly damaging	Het
Map3k5	A	T	10: 19,970,175 (GRCm39)	Y694F	probably damaging	Het
Myo1a	T	G	10: 127,552,214 (GRCm39)	F778V	probably damaging	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Or1ad1	A	G	11: 50,875,534 (GRCm39)	D2G	probably benign	Het
Or4l1	G	A	14: 50,166,489 (GRCm39)	H171Y	probably benign	Het
Or6aa1	A	G	7: 86,043,884 (GRCm39)	V274A	probably benign	Het
Or6z6	A	T	7: 6,491,470 (GRCm39)	Y134*	probably null	Het
Parp3	C	A	9: 106,348,514 (GRCm39)	S507I	possibly damaging	Het
Ppip5k2	T	A	1: 97,671,800 (GRCm39)	T491S	probably damaging	Het
Psmg1	T	A	16: 95,781,248 (GRCm39)	I266F	probably damaging	Het
Ptpn23	T	C	9: 110,218,763 (GRCm39)	T476A	probably benign	Het
Rttn	G	C	18: 89,032,744 (GRCm39)	V671L	probably damaging	Het
Srsf7	T	C	17: 80,508,990 (GRCm39)	E235G	unknown	Het
Sv2a	G	A	3: 96,096,751 (GRCm39)	W416*	probably null	Het
Tas2r107	A	G	6: 131,636,972 (GRCm39)	Y26H	probably benign	Het
Tenm2	T	C	11: 35,914,800 (GRCm39)	T2245A	probably damaging	Het
Vmn2r13	T	A	5: 109,319,627 (GRCm39)	H451L	possibly damaging	Het
Xkr6	T	C	14: 64,056,793 (GRCm39)	Y235H	unknown	Het

Other mutations in Fam193a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01981:Fam193a	APN	5	34,588,537 (GRCm39)	missense	probably damaging	0.99
IGL02111:Fam193a	APN	5	34,568,001 (GRCm39)	missense	possibly damaging	0.72
IGL02139:Fam193a	APN	5	34,602,081 (GRCm39)	missense	probably benign	0.12
IGL02218:Fam193a	APN	5	34,600,932 (GRCm39)	missense	possibly damaging	0.68
BB010:Fam193a	UTSW	5	34,623,539 (GRCm39)	missense	possibly damaging	0.53
BB020:Fam193a	UTSW	5	34,623,539 (GRCm39)	missense	possibly damaging	0.53
P0017:Fam193a	UTSW	5	34,597,807 (GRCm39)	missense	probably damaging	1.00
PIT4418001:Fam193a	UTSW	5	34,597,879 (GRCm39)	missense	probably damaging	0.97
R0172:Fam193a	UTSW	5	34,622,957 (GRCm39)	missense	probably damaging	0.97
R0413:Fam193a	UTSW	5	34,623,552 (GRCm39)	missense	possibly damaging	0.83
R0512:Fam193a	UTSW	5	34,583,735 (GRCm39)	missense	probably damaging	1.00
R0735:Fam193a	UTSW	5	34,596,722 (GRCm39)	missense	possibly damaging	0.85
R0764:Fam193a	UTSW	5	34,600,685 (GRCm39)	missense	probably damaging	0.99
R0904:Fam193a	UTSW	5	34,619,487 (GRCm39)	missense	probably damaging	1.00
R1756:Fam193a	UTSW	5	34,623,636 (GRCm39)	missense	possibly damaging	0.91
R1765:Fam193a	UTSW	5	34,593,841 (GRCm39)	missense	probably damaging	0.99
R1766:Fam193a	UTSW	5	34,619,475 (GRCm39)	missense	probably damaging	0.99
R1845:Fam193a	UTSW	5	34,600,716 (GRCm39)	missense	possibly damaging	0.91
R2051:Fam193a	UTSW	5	34,619,494 (GRCm39)	missense	probably benign	0.19
R2483:Fam193a	UTSW	5	34,623,102 (GRCm39)	missense	possibly damaging	0.96
R4523:Fam193a	UTSW	5	34,600,715 (GRCm39)	missense	probably benign	0.07
R4723:Fam193a	UTSW	5	34,578,130 (GRCm39)	missense	probably benign	0.04
R4823:Fam193a	UTSW	5	34,616,372 (GRCm39)	missense	probably damaging	1.00
R4826:Fam193a	UTSW	5	34,593,875 (GRCm39)	missense	probably damaging	1.00
R4863:Fam193a	UTSW	5	34,623,549 (GRCm39)	missense	possibly damaging	0.86
R5331:Fam193a	UTSW	5	34,622,915 (GRCm39)	splice site	probably null
R5364:Fam193a	UTSW	5	34,623,597 (GRCm39)	missense	probably benign	0.01
R5564:Fam193a	UTSW	5	34,578,199 (GRCm39)	missense	probably damaging	0.98
R5580:Fam193a	UTSW	5	34,578,132 (GRCm39)	missense	probably benign	0.33
R5784:Fam193a	UTSW	5	34,623,567 (GRCm39)	missense	probably damaging	0.99
R5933:Fam193a	UTSW	5	34,623,024 (GRCm39)	missense	probably damaging	0.98
R5949:Fam193a	UTSW	5	34,597,816 (GRCm39)	missense	possibly damaging	0.82
R6106:Fam193a	UTSW	5	34,616,374 (GRCm39)	missense	possibly damaging	0.67
R6181:Fam193a	UTSW	5	34,600,884 (GRCm39)	splice site	probably null
R7095:Fam193a	UTSW	5	34,615,378 (GRCm39)	missense	probably damaging	0.99
R7109:Fam193a	UTSW	5	34,623,165 (GRCm39)	missense	possibly damaging	0.86
R7344:Fam193a	UTSW	5	34,643,074 (GRCm39)	missense	possibly damaging	0.71
R7401:Fam193a	UTSW	5	34,622,979 (GRCm39)	missense	possibly damaging	0.72
R7453:Fam193a	UTSW	5	34,621,460 (GRCm39)	missense	possibly damaging	0.72
R7456:Fam193a	UTSW	5	34,578,132 (GRCm39)	missense	possibly damaging	0.86
R7648:Fam193a	UTSW	5	34,588,526 (GRCm39)	missense	probably damaging	0.99
R7768:Fam193a	UTSW	5	34,623,135 (GRCm39)	missense	possibly damaging	0.85
R7783:Fam193a	UTSW	5	34,588,524 (GRCm39)	missense	probably damaging	0.99
R7818:Fam193a	UTSW	5	34,622,997 (GRCm39)	missense	possibly damaging	0.72
R7852:Fam193a	UTSW	5	34,568,161 (GRCm39)	missense	probably benign	0.01
R7853:Fam193a	UTSW	5	34,597,473 (GRCm39)	missense	probably benign	0.12
R7894:Fam193a	UTSW	5	34,597,877 (GRCm39)	missense	possibly damaging	0.92
R7933:Fam193a	UTSW	5	34,623,539 (GRCm39)	missense	possibly damaging	0.53
R7957:Fam193a	UTSW	5	34,619,430 (GRCm39)	missense	probably damaging	1.00
R8191:Fam193a	UTSW	5	34,597,917 (GRCm39)	missense	probably damaging	0.96
R8281:Fam193a	UTSW	5	34,600,780 (GRCm39)	missense	unknown
R8554:Fam193a	UTSW	5	34,633,115 (GRCm39)	missense	probably benign	0.05
R8743:Fam193a	UTSW	5	34,577,501 (GRCm39)	critical splice donor site	probably null
R8821:Fam193a	UTSW	5	34,616,374 (GRCm39)	missense	probably benign	0.01
R8831:Fam193a	UTSW	5	34,616,374 (GRCm39)	missense	probably benign	0.01
R8896:Fam193a	UTSW	5	34,583,828 (GRCm39)	missense	probably benign	0.03
R8943:Fam193a	UTSW	5	34,597,796 (GRCm39)	missense	probably benign	0.01
R9026:Fam193a	UTSW	5	34,616,536 (GRCm39)	missense	possibly damaging	0.91
R9182:Fam193a	UTSW	5	34,623,361 (GRCm39)	missense	possibly damaging	0.72
R9210:Fam193a	UTSW	5	34,597,481 (GRCm39)	missense	probably benign	0.01
R9212:Fam193a	UTSW	5	34,597,481 (GRCm39)	missense	probably benign	0.01
R9291:Fam193a	UTSW	5	34,593,835 (GRCm39)	missense	probably damaging	1.00
R9515:Fam193a	UTSW	5	34,615,371 (GRCm39)	missense	possibly damaging	0.86
Z1088:Fam193a	UTSW	5	34,578,239 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTAGGTACATTTGTTACTGCCTC -3'
(R):5'- TCGGTTTGTTCTAAGGAGCC -3'

Sequencing Primer
(F):5'- CTTGGGGGATCAAATTCAACTCAC -3'
(R):5'- TCTAAGGAGCCATTGTGGATG -3'

Posted On

2015-01-11