Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03375:Gm960'

420460

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm960

Ensembl Gene

ENSMUSG00000071691

Gene Name

predicted gene 960

Synonyms

LOC381196

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

IGL03375

Quality Score

Status

Chromosome

Chromosomal Location

4625734-4698668 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4698178 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 164 (E164G)

Ref Sequence

ENSEMBL: ENSMUSP00000136515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096325] [ENSMUST00000177696] [ENSMUST00000225896]

Predicted Effect

unknown
Transcript: ENSMUST00000096325
AA Change: E10G

SMART Domains

Protein: ENSMUSP00000094049
Gene: ENSMUSG00000071691
AA Change: E10G

Domain	Start	End	E-Value	Type
Pfam:DUF4554	120	162	1.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177696
AA Change: E164G

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000136515
Gene: ENSMUSG00000071691
AA Change: E164G

Domain	Start	End	E-Value	Type
low complexity region	65	79	N/A	INTRINSIC
low complexity region	106	122	N/A	INTRINSIC
low complexity region	128	140	N/A	INTRINSIC
Pfam:DUF4554	274	719	5.3e-206	PFAM
low complexity region	720	731	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000225896
AA Change: E10G

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired double-strand break formation that imapires female and male meiosis and results in no spermatids and reduced primary and primordial follicle numbers. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	A	G	16: 38,602,828	S959P	probably damaging	Het
Arrb2	G	A	11: 70,436,179	G24D	probably damaging	Het
Catsper4	A	G	4: 134,218,208	I180T	probably damaging	Het
Chst15	G	A	7: 132,270,457	Q32*	probably null	Het
Cntnap5c	A	T	17: 58,162,205	Y594F	possibly damaging	Het
Cse1l	T	A	2: 166,943,057		probably benign	Het
Dab1	A	T	4: 104,681,601	I201F	possibly damaging	Het
Eif2ak4	T	C	2: 118,422,318	V457A	probably benign	Het
Fkbp1b	T	C	12: 4,838,220		probably benign	Het
Fryl	C	A	5: 73,088,449	V1122F	possibly damaging	Het
Gas2l2	A	G	11: 83,426,210		probably benign	Het
Gstt2	A	T	10: 75,832,821		probably null	Het
Hcst	T	G	7: 30,418,611		probably benign	Het
Hectd4	A	G	5: 121,328,382	E2420G	possibly damaging	Het
Hist2h4	T	C	3: 96,263,142	T55A	possibly damaging	Het
Ifi206	A	T	1: 173,480,778	S551T	probably benign	Het
Itgb3bp	A	G	4: 99,769,487		probably benign	Het
Krtap6-2	A	G	16: 89,419,756	Y108H	unknown	Het
Krtap6-5	T	G	16: 89,047,852		probably benign	Het
Muc5b	A	G	7: 141,861,962	T2882A	possibly damaging	Het
Nup214	C	T	2: 32,010,221	T854M	probably damaging	Het
Olfml2b	A	G	1: 170,649,832	K179E	probably benign	Het
Olfr1281	A	T	2: 111,328,884	H155L	probably damaging	Het
Olfr149	A	G	9: 39,702,575	S65P	probably damaging	Het
Per2	A	T	1: 91,424,228	I852K	possibly damaging	Het
Pkhd1	A	T	1: 20,117,023	I3687N	probably damaging	Het
Slc7a2	A	T	8: 40,916,373	S622C	probably damaging	Het
Smarcc2	G	A	10: 128,482,912	V719I	probably damaging	Het
Syne2	T	C	12: 75,925,435	I1033T	possibly damaging	Het
Tmod1	T	C	4: 46,096,999	I264T	probably damaging	Het
Tmtc3	G	A	10: 100,447,719	A658V	possibly damaging	Het
Tpm3	A	G	3: 90,073,772	E56G	possibly damaging	Het
Tra2b	T	C	16: 22,247,243		probably benign	Het
Trmu	T	A	15: 85,894,937	Y262N	possibly damaging	Het
Uox	C	T	3: 146,625,835	T213I	probably damaging	Het
Vps13d	A	G	4: 145,091,947	W2R	probably damaging	Het

Other mutations in Gm960

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01303:Gm960	APN	19	4659482	missense	possibly damaging	0.93
IGL01678:Gm960	APN	19	4672165	missense	possibly damaging	0.94
IGL02160:Gm960	APN	19	4663584	missense	probably damaging	1.00
IGL02308:Gm960	APN	19	4663555	missense	probably damaging	1.00
R0485:Gm960	UTSW	19	4658414	missense	probably damaging	1.00
R0671:Gm960	UTSW	19	4626188	missense	probably damaging	0.97
R1583:Gm960	UTSW	19	4652171	missense	probably damaging	1.00
R2049:Gm960	UTSW	19	4698605	utr 5 prime	probably benign
R3956:Gm960	UTSW	19	4692497	missense	probably benign	0.13
R4554:Gm960	UTSW	19	4649819	missense	possibly damaging	0.95
R4635:Gm960	UTSW	19	4698496	utr 5 prime	probably benign
R4717:Gm960	UTSW	19	4625873	unclassified	probably benign
R4996:Gm960	UTSW	19	4626084	missense	probably benign	0.09
R5133:Gm960	UTSW	19	4658421	missense	probably damaging	1.00
R5752:Gm960	UTSW	19	4626020	missense	probably benign	0.28
R6277:Gm960	UTSW	19	4627222	nonsense	probably null
R6348:Gm960	UTSW	19	4672078	missense	probably damaging	0.96
R7386:Gm960	UTSW	19	4663558	nonsense	probably null
R7673:Gm960	UTSW	19	4645633	missense	probably damaging	1.00

Posted On

2016-08-02