Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02139:Fam193a'

281447

Institutional Source

Australian Phenomics Network (link to record)

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: 0.176) question?

Stock #

IGL02139

Quality Score

Status

Chromosome

Chromosomal Location

34527277-34643800 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34602081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 428 (T428A)

Ref Sequence

ENSEMBL: ENSMUSP00000092463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094867] [ENSMUST00000180376] [ENSMUST00000202503]

AlphaFold

Q8CGI1

Predicted Effect

probably benign
Transcript: ENSMUST00000094867
AA Change: T428A

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000092463
Gene: ENSMUSG00000037210
AA Change: T428A

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: T714A

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

SMART Domains

Protein: ENSMUSP00000138082
Gene: ENSMUSG00000037210
AA Change: T714A

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

unknown
Transcript: ENSMUST00000201005
AA Change: T38A

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

Validation Efficiency

Allele List at MGI

All alleles(19) : Gene trapped(19)

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	A	4: 124,504,369 (GRCm39)	T61M	unknown	Het
Adam34l	T	A	8: 44,078,615 (GRCm39)	R536S	probably benign	Het
Ambn	T	C	5: 88,613,149 (GRCm39)	F217L	probably benign	Het
Cast	T	C	13: 74,876,484 (GRCm39)	D121G	possibly damaging	Het
Clmn	T	C	12: 104,747,358 (GRCm39)	I730V	probably benign	Het
Cryzl1	T	C	16: 91,509,139 (GRCm39)	K54R	possibly damaging	Het
Cyp3a16	A	G	5: 145,392,290 (GRCm39)	S222P	probably benign	Het
Dcstamp	T	C	15: 39,617,854 (GRCm39)	S88P	probably damaging	Het
F5	A	G	1: 164,020,243 (GRCm39)	D906G	possibly damaging	Het
Fbxw16	T	G	9: 109,265,754 (GRCm39)	D355A	probably benign	Het
Focad	T	C	4: 88,047,291 (GRCm39)		probably null	Het
Ftsj3	G	A	11: 106,145,489 (GRCm39)	P82S	possibly damaging	Het
Grwd1	A	T	7: 45,476,667 (GRCm39)	H307Q	probably damaging	Het
Hip1r	T	C	5: 124,134,307 (GRCm39)	F289S	probably damaging	Het
Igkc	C	T	6: 70,703,559 (GRCm39)	R47*	probably null	Het
Lcn3	T	C	2: 25,656,646 (GRCm39)	F100S	possibly damaging	Het
Lmnb1	T	C	18: 56,882,871 (GRCm39)	F572S	probably benign	Het
Mrps17	T	A	5: 129,793,860 (GRCm39)	I18N	probably damaging	Het
Myo9a	G	A	9: 59,687,275 (GRCm39)	V127I	probably benign	Het
Or2l13b	T	C	16: 19,349,640 (GRCm39)	D10G	probably benign	Het
Or4c35	T	C	2: 89,808,773 (GRCm39)	V217A	possibly damaging	Het
Or5g23	T	A	2: 85,438,574 (GRCm39)	K227*	probably null	Het
Pcdhb21	A	G	18: 37,648,299 (GRCm39)	D476G	probably damaging	Het
Pkd2l2	T	A	18: 34,545,768 (GRCm39)	Y56*	probably null	Het
Pld1	C	A	3: 28,174,961 (GRCm39)	D86E	probably damaging	Het
Plpp1	A	G	13: 112,993,433 (GRCm39)	T122A	probably benign	Het
Prkag3	A	G	1: 74,779,883 (GRCm39)	I484T	probably benign	Het
Prl7d1	T	A	13: 27,896,066 (GRCm39)	I104F	probably damaging	Het
Prr14l	A	G	5: 32,984,876 (GRCm39)	S1540P	probably damaging	Het
Pyroxd1	T	G	6: 142,300,457 (GRCm39)	S196A	probably benign	Het
Rbm42	G	A	7: 30,345,130 (GRCm39)	P185S	unknown	Het
Ror2	T	A	13: 53,265,200 (GRCm39)	I619F	probably damaging	Het
Slitrk4	T	G	X: 63,314,555 (GRCm39)	E704A	probably benign	Het
Sycp1	A	G	3: 102,772,430 (GRCm39)	V626A	probably benign	Het
Trmt44	T	A	5: 35,726,143 (GRCm39)	K345*	probably null	Het
Ugt1a6b	T	A	1: 88,035,527 (GRCm39)		probably benign	Het
Ulk4	T	A	9: 120,970,897 (GRCm39)		probably null	Het
Zfp618	G	T	4: 63,051,773 (GRCm39)	K758N	probably damaging	Het
Zfp819	G	T	7: 43,261,534 (GRCm39)		probably null	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
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
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

Posted On

2015-04-16