Mutagenetix > Incidental Mutation

Incidental Mutation 'BB020:Fam193a'

643115

Institutional Source

Beutler Lab

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence homology 193, member A

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

BB020

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34527277-34643800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34623539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 23 (K23E)

Ref Sequence

ENSEMBL: ENSMUSP00000137979 (fasta)

Gene Model

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

AlphaFold

Q8CGI1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000094867
AA Change: K1090E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: K1090E

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: K1376E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: K1376E

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

possibly damaging
Transcript: ENSMUST00000181379
AA Change: K23E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137979
Gene: ENSMUSG00000037210
AA Change: K23E

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: 99.1%

Validation Efficiency

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	G	11: 50,833,227 (GRCm39)	V125A	unknown	Het
Adam34	T	A	8: 44,103,911 (GRCm39)	H578L	probably damaging	Het
Ago4	A	T	4: 126,400,811 (GRCm39)	M678K	probably benign	Het
Atosb	A	T	4: 43,035,919 (GRCm39)	C271S	probably benign	Het
Atrn	T	C	2: 130,836,986 (GRCm39)	L1150P	probably damaging	Het
Camta1	C	T	4: 151,168,214 (GRCm39)	E279K	probably damaging	Het
Ccdc88c	T	C	12: 100,911,749 (GRCm39)	D695G	possibly damaging	Het
Col11a2	A	T	17: 34,275,029 (GRCm39)	K400*	probably null	Het
Cpsf4	T	A	5: 145,104,168 (GRCm39)	M1K	probably null	Het
Dnah12	A	T	14: 26,488,072 (GRCm39)	Q992L	probably benign	Het
Dnajc7	T	C	11: 100,487,038 (GRCm39)	Y145C	probably damaging	Het
Eml5	A	T	12: 98,810,279 (GRCm39)	D892E	possibly damaging	Het
Filip1	T	G	9: 79,727,329 (GRCm39)	K430T	possibly damaging	Het
Gm5089	T	C	14: 122,673,403 (GRCm39)	D106G	unknown	Het
Hip1	A	T	5: 135,489,310 (GRCm39)	N45K	probably damaging	Het
Hivep2	T	C	10: 14,003,581 (GRCm39)	S60P	probably damaging	Het
Ighv1-53	A	T	12: 115,122,029 (GRCm39)	C115*	probably null	Het
Macf1	T	C	4: 123,303,444 (GRCm39)	T353A	probably benign	Het
Mast3	A	T	8: 71,239,279 (GRCm39)	V433E	probably damaging	Het
Mast4	A	T	13: 102,909,071 (GRCm39)	M660K	probably damaging	Het
Nr2e1	T	C	10: 42,439,379 (GRCm39)	Y380C	probably damaging	Het
Or5b111	T	A	19: 13,291,569 (GRCm39)	M27L	probably benign	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
Slc6a1	T	A	6: 114,288,859 (GRCm39)	W473R	probably damaging	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Spata31d1e	A	G	13: 59,891,565 (GRCm39)	L85P	probably damaging	Het
Sprr3	T	C	3: 92,364,515 (GRCm39)	I110V	possibly damaging	Het
Ston1	A	G	17: 88,943,572 (GRCm39)	E326G	probably benign	Het
Tapbpl	T	G	6: 125,207,233 (GRCm39)	Q152P	probably damaging	Het
Tectb	C	T	19: 55,183,105 (GRCm39)	L319F	possibly damaging	Het
Tpp2	G	A	1: 44,000,121 (GRCm39)	G413D	probably damaging	Het
Tpsg1	A	G	17: 25,592,178 (GRCm39)	H84R	probably damaging	Het
Usp24	A	G	4: 106,285,686 (GRCm39)	N2437S	probably benign	Het
Usp32	T	C	11: 84,897,885 (GRCm39)	Q1152R	probably damaging	Het
Vmn2r6	T	C	3: 64,467,224 (GRCm39)	T92A	probably benign	Het
Xpo7	A	G	14: 70,944,788 (GRCm39)	V35A	probably benign	Het
Zan	T	A	5: 137,461,841 (GRCm39)	T1113S	unknown	Het
Zfp169	A	G	13: 48,643,957 (GRCm39)	V390A	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
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
R3014:Fam193a	UTSW	5	34,623,016 (GRCm39)	missense	probably benign	0.33
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'- CCAATGGGGATGCTACAGAC -3'
(R):5'- AATCAGCCTGCCATTCTGC -3'

Sequencing Primer
(F):5'- CTTCTGCTACCTAAGGAAGTCAATGG -3'
(R):5'- TGCCATTCTGCAGGAGCTG -3'

Posted On

2020-08-01