Mutagenetix > Incidental Mutation

Incidental Mutation 'R8896:Fam193a'

678019

Institutional Source

Beutler Lab

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence similarity 193, member A

Synonyms

MMRRC Submission

068698-MU

Accession Numbers

Essential gene?

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

Stock #

R8896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34369933-34486456 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34426484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 336 (T336A)

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: T50A

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: T50A

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: T336A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: T336A

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox4	T	G	1: 58,252,074 (GRCm38)	S784A	probably benign	Het
Ap3d1	T	A	10: 80,716,591 (GRCm38)	H581L	probably benign	Het
Atp11a	T	C	8: 12,849,781 (GRCm38)	Y915H	probably damaging	Het
Atp4b	T	C	8: 13,387,514 (GRCm38)	D213G	probably benign	Het
Bcl11a	A	G	11: 24,163,640 (GRCm38)	S328G	probably benign	Het
Bean1	CT	C	8: 104,182,032 (GRCm38)		probably null	Het
Cadps2	T	A	6: 23,410,877 (GRCm38)	Y685F	probably damaging	Het
Ccdc88b	C	T	19: 6,853,835 (GRCm38)	A580T	probably benign	Het
Cdc42bpa	GACAACA	GACA	1: 180,130,808 (GRCm38)		probably benign	Het
Cep152	A	T	2: 125,566,235 (GRCm38)	V1396D	possibly damaging	Het
Ces1c	T	C	8: 93,106,626 (GRCm38)	I404V	probably benign	Het
Cr2	A	T	1: 195,169,273 (GRCm38)	M137K	possibly damaging	Het
Cyp2d40	T	C	15: 82,760,253 (GRCm38)	Y257C	unknown	Het
Dennd1c	T	A	17: 57,074,512 (GRCm38)	D116V	probably damaging	Het
Dph2	G	A	4: 117,890,378 (GRCm38)	R270*	probably null	Het
Dpp8	A	C	9: 65,078,036 (GRCm38)	H792P	possibly damaging	Het
Dupd1	T	C	14: 21,686,695 (GRCm38)	D113G	probably benign	Het
Efs	T	C	14: 54,920,299 (GRCm38)	E185G	possibly damaging	Het
Eml3	A	G	19: 8,936,692 (GRCm38)	E480G	probably damaging	Het
Fermt1	C	T	2: 132,941,932 (GRCm38)		probably benign	Het
Galnt4	T	A	10: 99,110,093 (GRCm38)	V560D	probably damaging	Het
Gbp2b	C	A	3: 142,603,566 (GRCm38)	T146K	probably damaging	Het
Gbp5	C	T	3: 142,505,547 (GRCm38)	T346I	probably damaging	Het
Glrx	G	T	13: 75,847,198 (GRCm38)	C79F	probably damaging	Het
Glt8d2	T	A	10: 82,654,782 (GRCm38)	T225S	probably damaging	Het
Grm3	A	G	5: 9,512,483 (GRCm38)	F456L	possibly damaging	Het
Gse1	T	G	8: 120,576,446 (GRCm38)	S1109A	unknown	Het
Gstp3	A	T	19: 4,058,573 (GRCm38)	L63Q	probably damaging	Het
Hapln3	G	A	7: 79,117,491 (GRCm38)	R267W	probably benign	Het
Herc4	T	A	10: 63,311,507 (GRCm38)	I801N	possibly damaging	Het
Ido1	G	T	8: 24,587,864 (GRCm38)	D153E	probably benign	Het
Itpr3	G	A	17: 27,118,677 (GRCm38)		probably benign	Het
Kcnj9	T	A	1: 172,325,793 (GRCm38)	S255C	probably damaging	Het
Kpna3	T	C	14: 61,391,845 (GRCm38)	N39D	probably benign	Het
Krt39	A	T	11: 99,518,269 (GRCm38)	S269T	probably damaging	Het
Lfng	G	A	5: 140,613,223 (GRCm38)	V296I	probably benign	Het
Lrit3	T	A	3: 129,791,483 (GRCm38)	I209F	probably damaging	Het
Map4k5	T	A	12: 69,823,501 (GRCm38)	D523V	possibly damaging	Het
Mdn1	C	T	4: 32,678,328 (GRCm38)	P652L	probably benign	Het
Med30	G	A	15: 52,721,120 (GRCm38)	V145I	possibly damaging	Het
Megf6	T	A	4: 154,242,403 (GRCm38)	D163E	probably damaging	Het
Meltf	T	A	16: 31,890,704 (GRCm38)		probably benign	Het
Mindy4	T	C	6: 55,278,238 (GRCm38)	L567P	probably benign	Het
Mppe1	T	C	18: 67,237,401 (GRCm38)	D75G	probably damaging	Het
Muc4	C	T	16: 32,754,673 (GRCm38)	P1516S	probably benign	Het
Myo3b	C	A	2: 70,238,816 (GRCm38)	F494L	probably damaging	Het
Nedd4l	A	G	18: 65,165,617 (GRCm38)	T226A	probably benign	Het
Nod1	A	G	6: 54,944,292 (GRCm38)	V347A	probably benign	Het
Nup210	A	T	6: 91,042,253 (GRCm38)		probably null	Het
Nup210l	A	G	3: 90,118,625 (GRCm38)	R185G	probably damaging	Het
Olfr202	A	T	16: 59,284,089 (GRCm38)	M136K	probably damaging	Het
Olfr62	A	T	4: 118,666,305 (GRCm38)	M263L	probably benign	Het
Olfr957	A	G	9: 39,511,474 (GRCm38)	L82P	probably damaging	Het
Oma1	T	C	4: 103,353,632 (GRCm38)	L445S	probably damaging	Het
Oxsm	A	T	14: 16,242,677 (GRCm38)	F31I	probably benign	Het
Pdcd5	A	T	7: 35,647,370 (GRCm38)	M1K	probably null	Het
Pkd1l2	T	C	8: 117,013,876 (GRCm38)	T2161A	possibly damaging	Het
Pla2g3	A	T	11: 3,492,151 (GRCm38)	S404C	probably null	Het
Plec	A	G	15: 76,194,360 (GRCm38)	V60A	unknown	Het
Prpsap2	A	G	11: 61,752,910 (GRCm38)	S66P	possibly damaging	Het
Rarb	A	G	14: 16,436,804 (GRCm38)	L239P	probably damaging	Het
Ryr3	A	T	2: 112,753,050 (GRCm38)	Y2845*	probably null	Het
Spta1	T	C	1: 174,217,982 (GRCm38)	C1569R	probably damaging	Het
Stard13	G	A	5: 151,062,650 (GRCm38)	S465L	probably damaging	Het
Tmub1	A	T	5: 24,446,682 (GRCm38)	S80T	probably benign	Het
Trpv5	A	G	6: 41,670,913 (GRCm38)	F322S	probably damaging	Het
Vmn2r5	G	A	3: 64,503,782 (GRCm38)	A455V	probably benign	Het
Washc4	T	A	10: 83,570,018 (GRCm38)	N459K	probably damaging	Het
Wdr11	C	T	7: 129,605,713 (GRCm38)	R300*	probably null	Het
Zer1	A	G	2: 30,103,418 (GRCm38)	F559L	probably damaging	Het
Zfat	A	T	15: 68,180,670 (GRCm38)	V425D	probably damaging	Het
Zfp738	G	A	13: 67,669,791 (GRCm38)	L694F		Het
Zfp839	C	T	12: 110,868,843 (GRCm38)	A844V	probably damaging	Het

Other mutations in Fam193a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01981:Fam193a	APN	5	34,431,193 (GRCm38)	missense	probably damaging	0.99
IGL02111:Fam193a	APN	5	34,410,657 (GRCm38)	missense	possibly damaging	0.72
IGL02139:Fam193a	APN	5	34,444,737 (GRCm38)	missense	probably benign	0.12
IGL02218:Fam193a	APN	5	34,443,588 (GRCm38)	missense	possibly damaging	0.68
BB010:Fam193a	UTSW	5	34,466,195 (GRCm38)	missense	possibly damaging	0.53
BB020:Fam193a	UTSW	5	34,466,195 (GRCm38)	missense	possibly damaging	0.53
P0017:Fam193a	UTSW	5	34,440,463 (GRCm38)	missense	probably damaging	1.00
PIT4418001:Fam193a	UTSW	5	34,440,535 (GRCm38)	missense	probably damaging	0.97
R0172:Fam193a	UTSW	5	34,465,613 (GRCm38)	missense	probably damaging	0.97
R0413:Fam193a	UTSW	5	34,466,208 (GRCm38)	missense	possibly damaging	0.83
R0512:Fam193a	UTSW	5	34,426,391 (GRCm38)	missense	probably damaging	1.00
R0735:Fam193a	UTSW	5	34,439,378 (GRCm38)	missense	possibly damaging	0.85
R0764:Fam193a	UTSW	5	34,443,341 (GRCm38)	missense	probably damaging	0.99
R0904:Fam193a	UTSW	5	34,462,143 (GRCm38)	missense	probably damaging	1.00
R1756:Fam193a	UTSW	5	34,466,292 (GRCm38)	missense	possibly damaging	0.91
R1765:Fam193a	UTSW	5	34,436,497 (GRCm38)	missense	probably damaging	0.99
R1766:Fam193a	UTSW	5	34,462,131 (GRCm38)	missense	probably damaging	0.99
R1845:Fam193a	UTSW	5	34,443,372 (GRCm38)	missense	possibly damaging	0.91
R2051:Fam193a	UTSW	5	34,462,150 (GRCm38)	missense	probably benign	0.19
R2483:Fam193a	UTSW	5	34,465,758 (GRCm38)	missense	possibly damaging	0.96
R3014:Fam193a	UTSW	5	34,465,672 (GRCm38)	missense	probably benign	0.33
R4523:Fam193a	UTSW	5	34,443,371 (GRCm38)	missense	probably benign	0.07
R4723:Fam193a	UTSW	5	34,420,786 (GRCm38)	missense	probably benign	0.04
R4823:Fam193a	UTSW	5	34,459,028 (GRCm38)	missense	probably damaging	1.00
R4826:Fam193a	UTSW	5	34,436,531 (GRCm38)	missense	probably damaging	1.00
R4863:Fam193a	UTSW	5	34,466,205 (GRCm38)	missense	possibly damaging	0.86
R5331:Fam193a	UTSW	5	34,465,571 (GRCm38)	splice site	probably null
R5364:Fam193a	UTSW	5	34,466,253 (GRCm38)	missense	probably benign	0.01
R5564:Fam193a	UTSW	5	34,420,855 (GRCm38)	missense	probably damaging	0.98
R5580:Fam193a	UTSW	5	34,420,788 (GRCm38)	missense	probably benign	0.33
R5784:Fam193a	UTSW	5	34,466,223 (GRCm38)	missense	probably damaging	0.99
R5933:Fam193a	UTSW	5	34,465,680 (GRCm38)	missense	probably damaging	0.98
R5949:Fam193a	UTSW	5	34,440,472 (GRCm38)	missense	possibly damaging	0.82
R6106:Fam193a	UTSW	5	34,459,030 (GRCm38)	missense	possibly damaging	0.67
R6181:Fam193a	UTSW	5	34,443,540 (GRCm38)	splice site	probably null
R7095:Fam193a	UTSW	5	34,458,034 (GRCm38)	missense	probably damaging	0.99
R7109:Fam193a	UTSW	5	34,465,821 (GRCm38)	missense	possibly damaging	0.86
R7344:Fam193a	UTSW	5	34,485,730 (GRCm38)	missense	possibly damaging	0.71
R7401:Fam193a	UTSW	5	34,465,635 (GRCm38)	missense	possibly damaging	0.72
R7453:Fam193a	UTSW	5	34,464,116 (GRCm38)	missense	possibly damaging	0.72
R7456:Fam193a	UTSW	5	34,420,788 (GRCm38)	missense	possibly damaging	0.86
R7648:Fam193a	UTSW	5	34,431,182 (GRCm38)	missense	probably damaging	0.99
R7768:Fam193a	UTSW	5	34,465,791 (GRCm38)	missense	possibly damaging	0.85
R7783:Fam193a	UTSW	5	34,431,180 (GRCm38)	missense	probably damaging	0.99
R7818:Fam193a	UTSW	5	34,465,653 (GRCm38)	missense	possibly damaging	0.72
R7852:Fam193a	UTSW	5	34,410,817 (GRCm38)	missense	probably benign	0.01
R7853:Fam193a	UTSW	5	34,440,129 (GRCm38)	missense	probably benign	0.12
R7894:Fam193a	UTSW	5	34,440,533 (GRCm38)	missense	possibly damaging	0.92
R7933:Fam193a	UTSW	5	34,466,195 (GRCm38)	missense	possibly damaging	0.53
R7957:Fam193a	UTSW	5	34,462,086 (GRCm38)	missense	probably damaging	1.00
R8191:Fam193a	UTSW	5	34,440,573 (GRCm38)	missense	probably damaging	0.96
R8281:Fam193a	UTSW	5	34,443,436 (GRCm38)	missense	unknown
R8554:Fam193a	UTSW	5	34,475,771 (GRCm38)	missense	probably benign	0.05
R8743:Fam193a	UTSW	5	34,420,157 (GRCm38)	critical splice donor site	probably null
R8821:Fam193a	UTSW	5	34,459,030 (GRCm38)	missense	probably benign	0.01
R8831:Fam193a	UTSW	5	34,459,030 (GRCm38)	missense	probably benign	0.01
R8943:Fam193a	UTSW	5	34,440,452 (GRCm38)	missense	probably benign	0.01
R9026:Fam193a	UTSW	5	34,459,192 (GRCm38)	missense	possibly damaging	0.91
R9182:Fam193a	UTSW	5	34,466,017 (GRCm38)	missense	possibly damaging	0.72
R9210:Fam193a	UTSW	5	34,440,137 (GRCm38)	missense	probably benign	0.01
R9212:Fam193a	UTSW	5	34,440,137 (GRCm38)	missense	probably benign	0.01
R9291:Fam193a	UTSW	5	34,436,491 (GRCm38)	missense	probably damaging	1.00
R9515:Fam193a	UTSW	5	34,458,027 (GRCm38)	missense	possibly damaging	0.86
Z1088:Fam193a	UTSW	5	34,420,895 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAACAAGCCCGGGAATATGTG -3'
(R):5'- TGGCTCCTGGACATTAATTCTC -3'

Sequencing Primer
(F):5'- TGCTGGAGATGAAGGTCCGC -3'
(R):5'- AAATGCTTCTCTCTGCTAGCAAATTC -3'

Posted On

2021-08-02