Mutagenetix > Incidental Mutation

Incidental Mutation 'R4858:Fam171a2'

372253

Institutional Source

Beutler Lab

Gene Symbol

Fam171a2

Ensembl Gene

ENSMUSG00000034685

Gene Name

family with sequence similarity 171, member A2

Synonyms

MMRRC Submission

042469-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R4858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102436981-102447682 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 102440156 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 193 (G193E)

Ref Sequence

ENSEMBL: ENSMUSP00000038486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049057] [ENSMUST00000049460] [ENSMUST00000125819]

AlphaFold

A2A699

Predicted Effect

probably damaging
Transcript: ENSMUST00000049057
AA Change: G193E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038486
Gene: ENSMUSG00000034685
AA Change: G193E

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:UPF0560	41	820	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049460

SMART Domains

Protein: ENSMUSP00000046340
Gene: ENSMUSG00000034708

Domain	Start	End	E-Value	Type
signal peptide	1	30	N/A	INTRINSIC
GRAN	74	125	1.32e-22	SMART
GRAN	138	190	7.38e-26	SMART
GRAN	220	272	5.76e-28	SMART
GRAN	295	346	1.19e-29	SMART
GRAN	377	427	1.84e-26	SMART
GRAN	455	506	7.1e-28	SMART
GRAN	530	581	1.48e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123500

Predicted Effect

probably benign
Transcript: ENSMUST00000125819

SMART Domains

Protein: ENSMUSP00000134948
Gene: ENSMUSG00000034708

Domain	Start	End	E-Value	Type
GRAN	42	72	5.03e-4	SMART
GRAN	100	151	7.1e-28	SMART
GRAN	175	226	1.48e-25	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176953

Predicted Effect

probably benign
Transcript: ENSMUST00000177428

SMART Domains

Protein: ENSMUSP00000134893
Gene: ENSMUSG00000034708

Domain	Start	End	E-Value	Type
GRAN	1	49	8.68e-23	SMART
GRAN	77	128	7.1e-28	SMART
GRAN	152	180	3.98e-2	SMART
low complexity region	244	259	N/A	INTRINSIC
low complexity region	309	324	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

94% (103/109)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,349,577	Y1415C	probably damaging	Het
Adgrf1	T	C	17: 43,303,672	S216P	probably damaging	Het
Ankrd12	T	C	17: 66,031,433	D197G	probably damaging	Het
Aoc3	C	A	11: 101,331,662	H198Q	probably damaging	Het
Aox1	C	A	1: 58,104,481	H1253N	probably benign	Het
Arg1	T	A	10: 24,922,638	E38V	possibly damaging	Het
Baz2b	T	A	2: 59,907,743	M1741L	probably benign	Het
Bend4	T	C	5: 67,417,572	E322G	probably damaging	Het
Brpf1	T	C	6: 113,317,678	V661A	possibly damaging	Het
C2cd3	A	T	7: 100,454,953	T2058S	probably damaging	Het
Camk4	T	C	18: 33,176,213	V223A	probably damaging	Het
Casp1	C	T	9: 5,306,742	R395C	probably damaging	Het
Ccdc180	T	G	4: 45,923,244	I1066S	probably damaging	Het
Ccne1	A	G	7: 38,099,319	F292L	probably damaging	Het
Ccz1	A	T	5: 144,012,810	M100K	probably damaging	Het
Cep128	T	C	12: 91,260,162	T678A	probably benign	Het
Cep290	G	A	10: 100,494,911	R151Q	probably benign	Het
Crip3	A	G	17: 46,430,747		probably benign	Het
Ddx60	A	G	8: 62,021,314	M1479V	possibly damaging	Het
Defb40	T	A	8: 18,975,077	I38F	probably benign	Het
Diexf	A	G	1: 193,113,764	Y686H	probably damaging	Het
Dnajb2	C	T	1: 75,243,554	T221I	possibly damaging	Het
Dpcr1	G	A	17: 35,637,576	T377I	possibly damaging	Het
Dpysl3	T	C	18: 43,334,014	I279V	probably damaging	Het
Echs1	G	A	7: 140,112,586		probably benign	Het
Efl1	T	A	7: 82,671,627	N89K	probably damaging	Het
Extl3	T	C	14: 65,075,994	T580A	probably benign	Het
Fam234a	A	T	17: 26,216,617	D264E	probably benign	Het
Fbxw20	A	T	9: 109,234,695	V3D	possibly damaging	Het
Fig4	G	A	10: 41,233,590	P637L	probably benign	Het
Fnbp1l	G	A	3: 122,546,315	T496I	probably benign	Het
Fry	T	C	5: 150,401,643	V1175A	possibly damaging	Het
Gm5617	C	T	9: 48,495,668	A34V	possibly damaging	Het
Gnai1	A	T	5: 18,291,598	V109E	probably benign	Het
H2-K1	A	T	17: 33,997,324	Y283N	probably benign	Het
Hectd2	A	T	19: 36,605,282	I471F	probably damaging	Het
Hsdl2	T	C	4: 59,612,812		probably null	Het
Igkv3-1	T	C	6: 70,704,044	S76P	probably damaging	Het
Krt15	A	T	11: 100,132,071	S439R	probably benign	Het
Lama2	TTTGCGCATT	TTT	10: 27,043,643		probably null	Het
Lima1	G	A	15: 99,819,576	T23I	probably benign	Het
Map4k1	C	A	7: 28,988,770	H248Q	probably damaging	Het
Mcf2l	C	A	8: 13,013,972	T1004K	probably damaging	Het
Micall1	T	A	15: 79,122,946		probably benign	Het
Ms4a14	A	G	19: 11,301,612	I1194T	probably benign	Het
Mtor	T	C	4: 148,454,816	*257Q	probably null	Het
Ncan	T	A	8: 70,104,055	T961S	probably benign	Het
Olfr1100	T	G	2: 86,978,349	Y149S	probably damaging	Het
Olfr161	T	C	16: 3,592,842	S149P	probably damaging	Het
Olfr311	T	A	11: 58,841,207	L31H	possibly damaging	Het
Olfr331	T	A	11: 58,501,909	I216F	probably damaging	Het
Olfr389	T	A	11: 73,776,546	L260F	probably benign	Het
Olfr419	A	T	1: 174,250,696	I77N	probably damaging	Het
Pcdhgb2	A	G	18: 37,692,100	R715G	probably benign	Het
Pik3c3	T	C	18: 30,344,078		probably null	Het
Pkhd1l1	A	T	15: 44,491,101	D296V	probably damaging	Het
Plekhh2	A	G	17: 84,600,697	I1189V	probably damaging	Het
Psg18	A	T	7: 18,353,484	L83Q	possibly damaging	Het
Rps6kc1	A	G	1: 190,800,318	W496R	probably damaging	Het
Setd5	C	T	6: 113,149,566	T1188I	probably damaging	Het
Slc4a3	T	C	1: 75,555,085	F899L	probably damaging	Het
Slitrk6	T	C	14: 110,751,883	T131A	probably damaging	Het
Speg	G	T	1: 75,421,735	R1942L	probably damaging	Het
Sulf2	C	A	2: 166,081,604	R565L	probably benign	Het
Tcerg1	T	C	18: 42,523,981	M176T	unknown	Het
Tfcp2l1	T	C	1: 118,669,509	I440T	possibly damaging	Het
Tgm7	A	T	2: 121,098,964		probably null	Het
Tjp2	C	A	19: 24,122,120	G433V	probably damaging	Het
Tldc1	T	G	8: 119,772,523	T77P	probably benign	Het
Tmc7	C	T	7: 118,543,342	G608R	probably damaging	Het
Tmed4	A	G	11: 6,274,456	F68S	possibly damaging	Het
Tmem30b	G	A	12: 73,545,912	P143L	probably damaging	Het
Tnfrsf23	C	T	7: 143,681,480	C49Y	probably damaging	Het
Tnni3k	A	T	3: 154,786,808		probably null	Het
Trav12-2	G	T	14: 53,616,693	M41I	probably benign	Het
Trim6	T	A	7: 104,232,485	Y314*	probably null	Het
Ttc25	A	G	11: 100,550,321	N126S	probably damaging	Het
Vmn2r118	A	G	17: 55,592,894	V670A	probably damaging	Het
Zfp438	A	T	18: 5,213,154	D601E	probably benign	Het
Zfp606	T	A	7: 12,493,056	I310N	possibly damaging	Het

Other mutations in Fam171a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Fam171a2	APN	11	102437848	missense	possibly damaging	0.92
IGL01898:Fam171a2	APN	11	102439756	missense	possibly damaging	0.88
IGL02477:Fam171a2	APN	11	102440028	missense	probably benign	0.00
IGL03272:Fam171a2	APN	11	102444118	missense	possibly damaging	0.58
R0102:Fam171a2	UTSW	11	102444113	missense	possibly damaging	0.88
R0102:Fam171a2	UTSW	11	102444113	missense	possibly damaging	0.88
R0632:Fam171a2	UTSW	11	102437881	missense	probably damaging	0.99
R0733:Fam171a2	UTSW	11	102439722	missense	possibly damaging	0.83
R1005:Fam171a2	UTSW	11	102440181	missense	probably benign	0.05
R1323:Fam171a2	UTSW	11	102444125	missense	probably damaging	0.99
R1323:Fam171a2	UTSW	11	102444125	missense	probably damaging	0.99
R2425:Fam171a2	UTSW	11	102438361	missense	possibly damaging	0.88
R4838:Fam171a2	UTSW	11	102438685	missense	possibly damaging	0.88
R5119:Fam171a2	UTSW	11	102438733	missense	probably damaging	0.97
R5384:Fam171a2	UTSW	11	102437867	missense	possibly damaging	0.51
R5386:Fam171a2	UTSW	11	102437867	missense	possibly damaging	0.51
R5408:Fam171a2	UTSW	11	102437518	missense	possibly damaging	0.71
R5457:Fam171a2	UTSW	11	102437536	missense	possibly damaging	0.92
R5732:Fam171a2	UTSW	11	102439981	missense	possibly damaging	0.94
R6466:Fam171a2	UTSW	11	102439885	missense	probably damaging	1.00
R6931:Fam171a2	UTSW	11	102438434	missense	possibly damaging	0.95
R7196:Fam171a2	UTSW	11	102438346	missense	probably benign	0.04
R7261:Fam171a2	UTSW	11	102438074	missense	probably damaging	0.98
R7295:Fam171a2	UTSW	11	102438238	missense	possibly damaging	0.85
R7419:Fam171a2	UTSW	11	102438802	missense	possibly damaging	0.95
R7422:Fam171a2	UTSW	11	102438665	missense	probably benign	0.29
R7454:Fam171a2	UTSW	11	102439717	missense	possibly damaging	0.88
R7606:Fam171a2	UTSW	11	102444176	missense	possibly damaging	0.75
R7690:Fam171a2	UTSW	11	102437834	missense	probably benign	0.04
R7754:Fam171a2	UTSW	11	102438563	missense	probably benign	0.00
R7970:Fam171a2	UTSW	11	102437866	missense	possibly damaging	0.93
R8060:Fam171a2	UTSW	11	102438610	missense	possibly damaging	0.88
R8338:Fam171a2	UTSW	11	102438346	missense	probably benign	0.10
R8924:Fam171a2	UTSW	11	102440035	missense	possibly damaging	0.94
R8976:Fam171a2	UTSW	11	102438625	missense	possibly damaging	0.46
R9116:Fam171a2	UTSW	11	102439693	missense	probably damaging	0.98
R9155:Fam171a2	UTSW	11	102438671	missense	probably benign	0.28
R9346:Fam171a2	UTSW	11	102437945	missense	possibly damaging	0.87
Z1176:Fam171a2	UTSW	11	102447446	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTCCCATTGCCTGTTAGCAG -3'
(R):5'- GAGGTTCCGTTATCACATCCC -3'

Sequencing Primer
(F):5'- TTAGCAGGTGGACGCTCACAG -3'
(R):5'- ACATCCCTTCAAGTTACCAATCTGTG -3'

Posted On

2016-03-01