Mutagenetix > Incidental Mutation

Incidental Mutation 'R1756:Fam193a'

194849

Institutional Source

Beutler Lab

Gene Symbol

Fam193a

Ensembl Gene

ENSMUSG00000037210

Gene Name

family with sequence similarity 193, member A

Synonyms

MMRRC Submission

039788-MU

Accession Numbers

Essential gene?

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

Stock #

R1756 (G1)

Quality Score

198

Status

Validated

Chromosome

Chromosomal Location

34369933-34486456 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34466292 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 55 (I55N)

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: I1122N

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: I1122N

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: I1408N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: I1408N

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: I55N

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137979
Gene: ENSMUSG00000037210
AA Change: I55N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201811

Meta Mutation Damage Score

0.0870

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.5%
20x: 93.0%

Validation Efficiency

100% (96/96)

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330008L17Rik	C	A	8: 99,421,882 (GRCm38)		noncoding transcript	Het
Acin1	A	G	14: 54,665,204 (GRCm38)	V377A	probably benign	Het
Adam39	A	T	8: 40,825,324 (GRCm38)	I251F	probably damaging	Het
Adnp2	A	T	18: 80,127,697 (GRCm38)	*1166K	probably null	Het
Akap12	T	A	10: 4,357,574 (GRCm38)	D1461E	probably benign	Het
Aopep	T	A	13: 63,068,061 (GRCm38)	H382Q	possibly damaging	Het
Apba1	A	G	19: 23,893,692 (GRCm38)	D296G	possibly damaging	Het
Apol7a	G	T	15: 77,393,471 (GRCm38)	L26M	possibly damaging	Het
Bcl2	C	T	1: 106,712,392 (GRCm38)	M163I	probably damaging	Het
Cap2	T	G	13: 46,531,013 (GRCm38)	I53R	probably benign	Het
Ccdc74a	T	C	16: 17,650,468 (GRCm38)	V318A	possibly damaging	Het
Ccnb2	A	G	9: 70,410,788 (GRCm38)	V234A	probably benign	Het
Cd207	C	T	6: 83,675,597 (GRCm38)	V184I	probably benign	Het
Cdk12	C	A	11: 98,241,761 (GRCm38)	C1005*	probably null	Het
Cep83	T	C	10: 94,750,267 (GRCm38)	S344P	probably damaging	Het
Ces1g	A	T	8: 93,306,954 (GRCm38)	Y447N	probably benign	Het
Cfap54	A	T	10: 93,048,061 (GRCm38)	L277Q	probably damaging	Het
Cfh	A	G	1: 140,100,877 (GRCm38)	Y1027H	probably damaging	Het
Clcnkb	T	A	4: 141,415,214 (GRCm38)	I28F	possibly damaging	Het
Clec4d	A	G	6: 123,267,109 (GRCm38)	D59G	probably damaging	Het
Colq	G	A	14: 31,547,452 (GRCm38)	P153S	probably damaging	Het
Crybg1	T	A	10: 43,986,279 (GRCm38)	T1500S	probably damaging	Het
Cyp2d34	T	A	15: 82,617,524 (GRCm38)	R262W	probably damaging	Het
Dennd4b	C	G	3: 90,271,605 (GRCm38)	L559V	probably damaging	Het
Dhrs1	A	G	14: 55,739,309 (GRCm38)	V306A	probably benign	Het
Diaph1	A	T	18: 37,854,573 (GRCm38)	D1043E	possibly damaging	Het
Dis3	G	T	14: 99,086,103 (GRCm38)	D538E	probably damaging	Het
Dnai2	T	G	11: 114,750,380 (GRCm38)	S344A	probably benign	Het
Dner	C	T	1: 84,445,590 (GRCm38)	V431M	probably damaging	Het
Dnm1l	A	G	16: 16,342,695 (GRCm38)		probably null	Het
Eps15	T	G	4: 109,312,918 (GRCm38)	L139*	probably null	Het
Gm10308	T	A	17: 91,088,957 (GRCm38)	Y102*	probably null	Het
Gm10509	A	G	17: 21,690,855 (GRCm38)	K30E	possibly damaging	Het
Gpr155	T	C	2: 73,367,577 (GRCm38)	M400V	probably benign	Het
H2-M10.2	T	C	17: 36,286,123 (GRCm38)		probably benign	Het
Heatr1	G	T	13: 12,396,460 (GRCm38)	A61S	probably benign	Het
Helb	G	T	10: 120,094,242 (GRCm38)	T744K	probably damaging	Het
Hmcn1	C	A	1: 150,599,030 (GRCm38)	W4702L	probably damaging	Het
Hmcn2	C	T	2: 31,396,120 (GRCm38)	R2095W	probably damaging	Het
Igfbp3	G	C	11: 7,208,461 (GRCm38)	D267E	probably damaging	Het
Ighmbp2	T	A	19: 3,268,669 (GRCm38)	H469L	probably damaging	Het
Kcnj3	A	C	2: 55,437,220 (GRCm38)	K7T	probably damaging	Het
Krtap5-5	T	G	7: 142,229,621 (GRCm38)	K97N	unknown	Het
Lcor	T	C	19: 41,559,266 (GRCm38)	S430P	probably benign	Het
Lpin1	A	G	12: 16,538,540 (GRCm38)	V883A	probably damaging	Het
Lrp1b	T	C	2: 41,110,825 (GRCm38)	Y2243C	probably damaging	Het
Lrrc46	G	A	11: 97,034,730 (GRCm38)		probably benign	Het
Man1c1	G	C	4: 134,703,438 (GRCm38)	P11R	probably damaging	Het
Mpdz	C	T	4: 81,306,877 (GRCm38)	V1438M	possibly damaging	Het
Muc21	A	T	17: 35,619,239 (GRCm38)		probably benign	Het
Ncbp1	T	A	4: 46,169,131 (GRCm38)	L635*	probably null	Het
Nipbl	T	C	15: 8,338,551 (GRCm38)	N1202D	possibly damaging	Het
Nphs1	A	G	7: 30,461,534 (GRCm38)	D196G	probably benign	Het
Nup58	A	T	14: 60,244,670 (GRCm38)		probably benign	Het
Or2b2b	A	G	13: 21,674,695 (GRCm38)	I83T	probably benign	Het
Or8b42	A	T	9: 38,430,995 (GRCm38)	I238F	probably benign	Het
Or8k16	A	G	2: 85,690,083 (GRCm38)	Y218C	probably damaging	Het
Pax8	A	T	2: 24,435,821 (GRCm38)	N350K	probably damaging	Het
Pik3cd	T	C	4: 149,658,750 (GRCm38)	K298E	probably benign	Het
Pkd1	C	T	17: 24,594,485 (GRCm38)	R4000C	probably damaging	Het
Pkn2	A	T	3: 142,810,727 (GRCm38)	V546D	possibly damaging	Het
Plcg2	A	G	8: 117,592,708 (GRCm38)	K673E	probably benign	Het
Pld4	T	G	12: 112,763,392 (GRCm38)		probably null	Het
Plek	A	T	11: 16,992,901 (GRCm38)	N130K	probably damaging	Het
Prune2	G	A	19: 17,123,704 (GRCm38)	D2191N	probably benign	Het
Ptgis	T	C	2: 167,206,803 (GRCm38)	Y431C	probably damaging	Het
Rhbdf2	T	C	11: 116,607,266 (GRCm38)	S36G	probably benign	Het
Rtn4ip1	C	T	10: 43,910,830 (GRCm38)	A178V	probably damaging	Het
Rxfp1	A	G	3: 79,670,881 (GRCm38)	S168P	probably benign	Het
Sec24a	A	G	11: 51,733,763 (GRCm38)		probably benign	Het
Shf	G	A	2: 122,368,682 (GRCm38)	P51S	probably damaging	Het
Slitrk6	C	T	14: 110,750,552 (GRCm38)	M574I	probably benign	Het
Slk	T	C	19: 47,622,677 (GRCm38)	F861L	probably damaging	Het
Smpd3	C	A	8: 106,264,971 (GRCm38)	A317S	probably benign	Het
Spopfm1	A	T	3: 94,266,218 (GRCm38)	M174L	probably benign	Het
Spz1	T	A	13: 92,575,125 (GRCm38)	Q281L	probably damaging	Het
Syde1	T	A	10: 78,586,980 (GRCm38)	R519S	probably benign	Het
Taf4	T	C	2: 179,976,531 (GRCm38)	H39R	unknown	Het
Tbx5	A	T	5: 119,845,113 (GRCm38)		probably null	Het
Tektl1	T	A	10: 78,747,197 (GRCm38)	K451M	probably damaging	Het
Tenm2	C	T	11: 36,063,177 (GRCm38)	G1236R	possibly damaging	Het
Th	G	A	7: 142,898,166 (GRCm38)	Q19*	probably null	Het
Tmprss11a	T	A	5: 86,420,179 (GRCm38)	I230F	probably damaging	Het
Tnfrsf14	T	A	4: 154,925,322 (GRCm38)	H50L	possibly damaging	Het
Tpp2	T	A	1: 43,978,725 (GRCm38)		probably null	Het
Trappc9	G	A	15: 73,025,967 (GRCm38)	R377W	probably damaging	Het
Trim2	A	G	3: 84,190,800 (GRCm38)	I398T	possibly damaging	Het
Trpc5	A	T	X: 144,481,226 (GRCm38)	S212T	probably damaging	Het
Ttn	A	G	2: 76,787,334 (GRCm38)		probably benign	Het
Unc80	A	G	1: 66,639,248 (GRCm38)	T2063A	possibly damaging	Het
Usp37	A	T	1: 74,479,655 (GRCm38)	S260T	probably benign	Het
Vcan	A	G	13: 89,691,681 (GRCm38)	S1915P	probably benign	Het
Vmn1r33	T	A	6: 66,612,298 (GRCm38)	I91F	possibly damaging	Het
Zfp422	T	C	6: 116,626,424 (GRCm38)	T205A	probably benign	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
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
R8896:Fam193a	UTSW	5	34,426,484 (GRCm38)	missense	probably benign	0.03
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'- TCGGCCAAGTAAAGACTGTTCCAAG -3'
(R):5'- CAAGTGAACTGCTGGTTCTGTCTCC -3'

Sequencing Primer
(F):5'- AGCTTCTGCTACCTAAGGAAGTC -3'
(R):5'- GCTGGTTCTGTCTCCTTTCTTC -3'

Posted On

2014-05-23