Mutagenetix > Incidental Mutation

Incidental Mutation 'R6170:Fam205a1'

490367

Institutional Source

Beutler Lab

Gene Symbol

Fam205a1

Ensembl Gene

ENSMUSG00000078721

Gene Name

family with sequence similarity 205, member A1

Synonyms

Gm12429

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R6170 (G1)

Quality Score

202.009

Status

Not validated

Chromosome

Chromosomal Location

42848071-42853888 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42849345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 937 (V937A)

Ref Sequence

ENSEMBL: ENSMUSP00000103613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068158] [ENSMUST00000107979] [ENSMUST00000107981] [ENSMUST00000107984]

AlphaFold

D3YZF6

Predicted Effect

probably benign
Transcript: ENSMUST00000068158

SMART Domains

Protein: ENSMUSP00000068585
Gene: ENSMUSG00000054885

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107979
AA Change: V937A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103613
Gene: ENSMUSG00000078721
AA Change: V937A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DUF4599	52	137	5e-26	PFAM
low complexity region	169	179	N/A	INTRINSIC
internal_repeat_1	278	314	8.5e-5	PROSPERO
Pfam:FAM75	409	493	4.3e-10	PFAM
Pfam:FAM75	453	628	1.2e-12	PFAM
low complexity region	1160	1172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107981

SMART Domains

Protein: ENSMUSP00000103615
Gene: ENSMUSG00000078722

Domain	Start	End	E-Value	Type
Pfam:DUF4599	1	56	1.4e-15	PFAM
low complexity region	87	104	N/A	INTRINSIC
Pfam:FAM75	157	279	9.4e-9	PFAM
Pfam:FAM75	322	366	6.1e-10	PFAM
Pfam:FAM75	365	543	8.3e-11	PFAM
low complexity region	882	895	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107984

SMART Domains

Protein: ENSMUSP00000103618
Gene: ENSMUSG00000054885

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

96% (68/71)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	T	A	6: 72,348,572	S90R	probably benign	Het
4930430A15Rik	A	G	2: 111,227,948	Y167H	probably benign	Het
4930523C07Rik	C	A	1: 160,075,173	N4K	possibly damaging	Het
5430419D17Rik	A	T	7: 131,174,487		probably null	Het
Adgrl2	A	G	3: 148,823,009	S1167P	probably damaging	Het
Akr1e1	T	C	13: 4,602,724	D94G	possibly damaging	Het
Anln	T	C	9: 22,368,497	N466D	probably benign	Het
Atp9b	T	A	18: 80,877,347	I231L	probably benign	Het
Bpifb3	T	A	2: 153,919,637	M2K	unknown	Het
Btbd3	T	C	2: 138,278,942	L12P	probably damaging	Het
Btnl6	T	A	17: 34,515,506	Y94F	probably damaging	Het
Cab39	T	A	1: 85,818,455	L19*	probably null	Het
Cacna2d2	A	G	9: 107,527,334	D1114G	probably damaging	Het
Cdh11	A	G	8: 102,634,810	V632A	probably benign	Het
Cemip	T	G	7: 83,947,230	T1109P	possibly damaging	Het
Col7a1	C	A	9: 108,966,443	P1522Q	unknown	Het
Colgalt1	C	T	8: 71,621,870	L409F	probably damaging	Het
Crtc2	A	G	3: 90,259,600	M125V	probably benign	Het
Cyp2b19	T	G	7: 26,759,094	M78R	possibly damaging	Het
Cyp4a12a	A	C	4: 115,327,446	D308A	possibly damaging	Het
D16Ertd472e	T	C	16: 78,545,267	T242A	probably benign	Het
Ddah1	A	G	3: 145,891,506	D166G	probably benign	Het
Dmtn	T	C	14: 70,617,355	D60G	probably damaging	Het
Dsg1a	A	T	18: 20,335,986	D607V	probably damaging	Het
Ebf1	T	A	11: 44,883,885	N236K	probably damaging	Het
Emc1	A	G	4: 139,366,378	T600A	probably benign	Het
Fbxo33	T	C	12: 59,204,649	N360S	probably benign	Het
Fbxw5	A	G	2: 25,503,603	D72G	possibly damaging	Het
Fhad1	T	A	4: 141,890,952	K1388*	probably null	Het
Fzd7	A	G	1: 59,483,845	M296V	probably benign	Het
Gdpd3	T	C	7: 126,771,164	I257T	probably benign	Het
Glt28d2	T	G	3: 85,871,941	D75A	possibly damaging	Het
Gm14295	G	A	2: 176,811,144		probably benign	Het
Gm28729	A	G	9: 96,519,441	I98T	probably damaging	Het
Gm4924	C	T	10: 82,377,231	Q288*	probably null	Het
Gpr150	T	C	13: 76,056,557	M90V	probably damaging	Het
Ireb2	G	A	9: 54,887,372	V331I	probably benign	Het
Kdelc2	T	C	9: 53,399,742	V481A	possibly damaging	Het
Lpcat2b	A	T	5: 107,433,894	Y363F	probably benign	Het
Me2	T	C	18: 73,785,781	I410V	probably benign	Het
Naxe	T	C	3: 88,058,230	E58G	probably damaging	Het
Nlrp10	T	A	7: 108,924,464	D603V	probably benign	Het
Nlrp1b	T	A	11: 71,156,079	Y1149F	probably damaging	Het
Nrg1	A	G	8: 31,818,480	Y503H	probably damaging	Het
Nxpe4	C	T	9: 48,392,804	P64S	probably benign	Het
Pkd1l3	A	T	8: 109,623,179	T219S	unknown	Het
Plagl1	T	C	10: 13,127,231	L81P	probably damaging	Het
Polq	A	G	16: 37,045,812	Q457R	possibly damaging	Het
Ppargc1a	C	A	5: 51,473,911	A459S	probably damaging	Het
Ppp1r13l	A	G	7: 19,370,437	D253G	probably benign	Het
Prl2c2	T	A	13: 13,002,172	N55Y	probably damaging	Het
Prlr	T	C	15: 10,328,849	F470S	probably benign	Het
Serpina12	T	C	12: 104,038,241	D44G	probably benign	Het
Sfxn1	T	G	13: 54,106,507	S291R	probably benign	Het
Sipa1l1	A	G	12: 82,341,672	D224G	probably benign	Het
Slc30a7	A	G	3: 115,990,743	F123S	probably damaging	Het
Stox2	T	A	8: 47,192,020	M802L	probably benign	Het
Tmem150a	G	A	6: 72,356,745	R30H	probably benign	Het
Tmem210	G	A	2: 25,288,764		probably null	Het
Tor3a	T	C	1: 156,656,573	N269S	possibly damaging	Het
Trp63	A	C	16: 25,884,853	N423T	probably benign	Het
Vmn2r60	A	G	7: 42,135,621	I86V	possibly damaging	Het
Vmn2r74	T	C	7: 85,957,140	I333V	probably benign	Het
Vwa7	C	A	17: 35,021,210	H385N	possibly damaging	Het
Wdr1	T	C	5: 38,529,671		probably null	Het
Wdr31	A	G	4: 62,463,424	Y57H	probably damaging	Het
Zbtb44	T	A	9: 31,053,382	H29Q	probably damaging	Het
Zfp532	T	A	18: 65,624,438	S481T	probably damaging	Het
Zfp955b	G	T	17: 33,302,110	R184S	probably benign	Het

Other mutations in Fam205a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Fam205a1	APN	4	42850963	missense	probably benign	0.04
IGL01369:Fam205a1	APN	4	42852548	splice site	probably null
IGL02737:Fam205a1	APN	4	42849431	missense	possibly damaging	0.90
IGL02951:Fam205a1	APN	4	42850696	missense	probably benign	0.03
IGL03190:Fam205a1	APN	4	42848362	missense	probably benign	0.20
IGL03407:Fam205a1	APN	4	42850528	missense	probably benign	0.00
R0285:Fam205a1	UTSW	4	42850236	missense	probably benign	0.00
R0345:Fam205a1	UTSW	4	42851116	missense	probably benign	0.00
R0373:Fam205a1	UTSW	4	42851161	missense	probably benign	0.00
R0763:Fam205a1	UTSW	4	42851238	missense	probably damaging	1.00
R1668:Fam205a1	UTSW	4	42848424	missense	probably damaging	0.99
R2406:Fam205a1	UTSW	4	42851696	missense	probably benign
R3722:Fam205a1	UTSW	4	42851472	missense	probably benign	0.01
R4820:Fam205a1	UTSW	4	42851815	missense	probably damaging	1.00
R5168:Fam205a1	UTSW	4	42851488	missense	probably damaging	0.99
R6249:Fam205a1	UTSW	4	42850528	missense	probably benign	0.00
R6357:Fam205a1	UTSW	4	42850393	missense	probably damaging	1.00
R6496:Fam205a1	UTSW	4	42848424	missense	probably damaging	0.99
R6894:Fam205a1	UTSW	4	42850291	missense	probably benign	0.33
R7079:Fam205a1	UTSW	4	42851718	missense	probably benign	0.17
R7881:Fam205a1	UTSW	4	42851586	missense	probably benign	0.00
R7904:Fam205a1	UTSW	4	42850765	missense	possibly damaging	0.53
R7938:Fam205a1	UTSW	4	42850765	missense	possibly damaging	0.53
R8017:Fam205a1	UTSW	4	42850840	missense	probably damaging	1.00
R8210:Fam205a1	UTSW	4	42848542	missense	probably benign	0.00
R8385:Fam205a1	UTSW	4	42850509	missense	possibly damaging	0.80
R8894:Fam205a1	UTSW	4	42853688	missense	possibly damaging	0.87
R8981:Fam205a1	UTSW	4	42849354	missense	probably benign	0.00
R9448:Fam205a1	UTSW	4	42850250	nonsense	probably null
R9488:Fam205a1	UTSW	4	42850560	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTCCCCATCTGAACATAGTGC -3'
(R):5'- GCCTCTCCTGAATAGACCCTAC -3'

Sequencing Primer
(F):5'- CCATCTGAACATAGTGCACTTGGG -3'
(R):5'- ATCATGGAGAGAGTGAGTTTCTACC -3'

Posted On

2017-10-10