Mutagenetix > Incidental Mutations

Incidental Mutation 'R2188:Fam91a1'

237945

Institutional Source

Beutler Lab

Gene Symbol

Fam91a1

Ensembl Gene

ENSMUSG00000037119

Gene Name

family with sequence similarity 91, member A1

Synonyms

D15Ertd621e

MMRRC Submission

040190-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2188 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58415468-58457740 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 58430663 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 284 (N284T)

Ref Sequence

ENSEMBL: ENSMUSP00000036524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037270]

Predicted Effect

probably damaging
Transcript: ENSMUST00000037270
AA Change: N284T

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000036524
Gene: ENSMUSG00000037119
AA Change: N284T

Domain	Start	End	E-Value	Type
Pfam:FAM91_N	8	312	2.8e-149	PFAM
Pfam:FAM91_C	374	821	3.8e-182	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227770

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227796

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit male infertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 80,002,533	L547P	probably damaging	Het
Arhgap29	A	C	3: 121,991,009	D195A	probably damaging	Het
Atad3a	A	T	4: 155,751,519	I274N	probably damaging	Het
C130060K24Rik	C	A	6: 65,441,276	H143N	probably damaging	Het
Ccdc12	G	T	9: 110,656,631	K23N	possibly damaging	Het
Ccpg1	A	G	9: 73,013,106	T668A	probably benign	Het
Cdc34b	T	C	11: 94,742,172	I66T	probably benign	Het
Dnah1	A	G	14: 31,279,164	I2408T	probably damaging	Het
Gbp2b	A	T	3: 142,608,279	E440V	probably benign	Het
Gm5134	T	C	10: 75,995,836	S370P	probably damaging	Het
Hmcn2	G	A	2: 31,419,935	A3238T	probably benign	Het
Hmg20a	A	G	9: 56,477,300	E118G	possibly damaging	Het
Kdm5a	T	A	6: 120,406,640	F781I	possibly damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Kmt2d	A	G	15: 98,839,300		probably benign	Het
Lrp1b	T	C	2: 41,408,959	T857A	probably benign	Het
Mucl2	T	A	15: 103,897,574	N39I	probably damaging	Het
Myl6	A	G	10: 128,492,697	I27T	possibly damaging	Het
Ndor1	A	T	2: 25,251,753		probably null	Het
Nlrp9a	A	G	7: 26,564,929	E758G	probably damaging	Het
Olfr52	A	T	2: 86,181,436	I225N	probably damaging	Het
Olfr652	G	A	7: 104,564,676	A152T	probably benign	Het
Parp3	G	A	9: 106,475,852	R42W	probably damaging	Het
Pik3c2g	A	G	6: 139,852,874	I495V	probably damaging	Het
Sdsl	C	T	5: 120,458,420	G310S	probably damaging	Het
Sec24a	A	G	11: 51,723,584	L531P	probably damaging	Het
Slc2a12	C	T	10: 22,664,837	S197F	probably benign	Het
Snapc1	T	A	12: 73,970,227	I213N	probably damaging	Het
Srpk1	A	T	17: 28,594,189	I527N	probably damaging	Het
Ssfa2	T	C	2: 79,644,923	S409P	probably benign	Het
Steap2	G	T	5: 5,673,643	Y412*	probably null	Het
Tbk1	A	C	10: 121,563,931	Y329*	probably null	Het
Tekt5	T	C	16: 10,358,325	E452G	probably damaging	Het
Tmc5	G	T	7: 118,654,955	C672F	probably damaging	Het
Trim27	T	C	13: 21,183,817	L201S	probably damaging	Het
Vil1	A	C	1: 74,427,565	D638A	probably benign	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Zfp583	C	T	7: 6,317,611	R134H	probably benign	Het

Other mutations in Fam91a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Fam91a1	APN	15	58430735	missense	probably damaging	0.99
IGL00590:Fam91a1	APN	15	58415716	missense	possibly damaging	0.66
IGL01301:Fam91a1	APN	15	58442871	missense	probably damaging	0.99
IGL01372:Fam91a1	APN	15	58430062	missense	probably damaging	1.00
IGL01979:Fam91a1	APN	15	58432584	missense	probably damaging	1.00
IGL02085:Fam91a1	APN	15	58441656	missense	possibly damaging	0.95
IGL02553:Fam91a1	APN	15	58432982	critical splice donor site	probably null
IGL02605:Fam91a1	APN	15	58431196	splice site	probably benign
IGL02882:Fam91a1	APN	15	58453061	splice site	probably benign
IGL02894:Fam91a1	APN	15	58443231	missense	probably benign	0.09
ANU18:Fam91a1	UTSW	15	58442871	missense	probably damaging	0.99
H8562:Fam91a1	UTSW	15	58427121	splice site	probably null
R0395:Fam91a1	UTSW	15	58454792	missense	probably benign
R1165:Fam91a1	UTSW	15	58430669	missense	possibly damaging	0.90
R1699:Fam91a1	UTSW	15	58432948	missense	probably benign	0.04
R1749:Fam91a1	UTSW	15	58426594	missense	probably benign	0.02
R1997:Fam91a1	UTSW	15	58424195	critical splice acceptor site	probably null
R2042:Fam91a1	UTSW	15	58426594	missense	probably benign	0.02
R2518:Fam91a1	UTSW	15	58450600	missense	possibly damaging	0.92
R3124:Fam91a1	UTSW	15	58421889	missense	probably benign	0.34
R3916:Fam91a1	UTSW	15	58430734	missense	probably damaging	1.00
R4810:Fam91a1	UTSW	15	58434740	missense	probably damaging	1.00
R4959:Fam91a1	UTSW	15	58431210	missense	probably benign	0.16
R4973:Fam91a1	UTSW	15	58431210	missense	probably benign	0.16
R5288:Fam91a1	UTSW	15	58448394	missense	probably benign
R5385:Fam91a1	UTSW	15	58448394	missense	probably benign
R5386:Fam91a1	UTSW	15	58448394	missense	probably benign
R5941:Fam91a1	UTSW	15	58431317	missense	probably benign	0.01
R6415:Fam91a1	UTSW	15	58442917	missense	probably damaging	1.00
R6869:Fam91a1	UTSW	15	58431268	missense	probably benign	0.00
R7175:Fam91a1	UTSW	15	58430678	missense	probably benign	0.06
R7872:Fam91a1	UTSW	15	58448360	missense	probably benign	0.01
R7955:Fam91a1	UTSW	15	58448360	missense	probably benign	0.01
X0024:Fam91a1	UTSW	15	58430189	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCCTCCTTAGTAGAGGATCTAGG -3'
(R):5'- GGATTCACCTCAATTGGCAGAG -3'

Sequencing Primer
(F):5'- CTCCTTAGTAGAGGATCTAGGGACCG -3'
(R):5'- TCACAGATGGAACATTCTTC -3'

Posted On

2014-10-02