Mutagenetix > Incidental Mutations

Incidental Mutation 'ANU18:Fam91a1'

262558

Institutional Source

Beutler Lab

Gene Symbol

Fam91a1

Ensembl Gene

ENSMUSG00000037119

Gene Name

family with sequence similarity 91, member A1

Synonyms

D15Ertd621e

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

ANU18

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58415468-58457740 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58442871 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 534 (F534L)

Ref Sequence

ENSEMBL: ENSMUSP00000036524 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000037270
AA Change: F534L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000036524
Gene: ENSMUSG00000037119
AA Change: F534L

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: ENSMUST00000228576

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.4%

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 14,943,919		probably null	Het
Acacb	A	T	5: 114,246,498	I2238L	probably benign	Het
Aldh1l2	T	C	10: 83,522,846	Y95C	probably damaging	Het
Asxl2	A	G	12: 3,501,425	T1056A	probably damaging	Het
B4galnt1	A	G	10: 127,169,779	T250A	possibly damaging	Het
Cela3b	A	T	4: 137,423,843		probably null	Het
Chst3	T	C	10: 60,185,832	T398A	probably damaging	Het
Cngb3	A	G	4: 19,425,625	T478A	probably damaging	Het
Cyp4a10	T	C	4: 115,518,455	L45P	probably damaging	Het
D630003M21Rik	A	G	2: 158,217,648	S111P	probably benign	Het
Defb21	A	G	2: 152,574,751	E49G	possibly damaging	Het
Dnajc1	T	C	2: 18,308,834	T159A	probably damaging	Het
Dnmbp	A	G	19: 43,902,354	S325P	probably benign	Het
Fermt2	T	C	14: 45,464,863	E488G	probably damaging	Het
Filip1	T	C	9: 79,819,180	D719G	possibly damaging	Het
Gad1-ps	A	G	10: 99,445,151		noncoding transcript	Het
Glra3	C	A	8: 55,940,962	A36E	probably benign	Het
Hnrnpm	C	T	17: 33,669,168		probably null	Het
Lct	T	A	1: 128,308,047	R408*	probably null	Het
Lrrk2	T	A	15: 91,767,339	Y1733N	probably damaging	Het
Mindy1	T	C	3: 95,288,390	L148P	probably damaging	Het
Mkrn2	C	A	6: 115,611,789	Y164*	probably null	Het
Msra	T	C	14: 64,210,435	Y135C	probably damaging	Het
Ndst3	C	T	3: 123,548,916	A749T	probably damaging	Het
Ngdn	G	T	14: 55,017,114	A41S	probably benign	Het
Nlrp12	A	T	7: 3,240,092	S597T	probably damaging	Het
Olfr1451	A	T	19: 12,999,417	I144F	probably damaging	Het
Pabpc6	A	G	17: 9,667,970	S551P	probably benign	Het
Plekhg5	C	T	4: 152,112,553	A752V	probably benign	Het
Prpf4b	T	C	13: 34,884,291	S368P	probably benign	Het
Pus7	A	G	5: 23,746,424		probably null	Het
Rab40b	C	G	11: 121,357,962	V156L	probably benign	Het
Slc9a9	T	A	9: 95,055,459	S455T	probably benign	Het
Tmem26	A	T	10: 68,778,606	N284Y	probably damaging	Het
Tmem87a	T	C	2: 120,380,769	I232V	probably benign	Het
Trpm2	A	G	10: 77,923,984	L1106P	probably damaging	Het
Tshz1	A	G	18: 84,014,661	Y541H	probably damaging	Het
Zfp213	G	T	17: 23,561,417	A43D	probably benign	Het
Zfp365	A	G	10: 67,909,354	V198A	probably damaging	Het
Zfp618	G	A	4: 63,132,826	V615M	probably damaging	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
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
R2188:Fam91a1	UTSW	15	58430663	missense	probably damaging	0.98
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
X0024:Fam91a1	UTSW	15	58430189	missense	probably damaging	0.98
Z1177:Fam91a1	UTSW	15	58432548	missense	possibly damaging	0.68

Predicted Primers

PCR Primer
(F):5'- CATGAGGAAGTTACTAGCCAGGCAC -3'
(R):5'- TTTGAAGCAGGAACGACCCCAG -3'

Sequencing Primer
(F):5'- tgatggagcaaatgaggcac -3'
(R):5'- Cagtgtttgcccaacatgc -3'

Posted On

2015-02-04