Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01529:Sergef'

89694

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sergef

Ensembl Gene

ENSMUSG00000030839

Gene Name

secretion regulating guanine nucleotide exchange factor

Synonyms

DelGEF, Gef, Gnefr

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.322) question?

Stock #

IGL01529

Quality Score

Status

Chromosome

Chromosomal Location

46092578-46289231 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 46092942 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 356 (W356R)

Ref Sequence

ENSEMBL: ENSMUSP00000033127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033127] [ENSMUST00000160433] [ENSMUST00000216505]

AlphaFold

Q80YD6

Predicted Effect

probably damaging
Transcript: ENSMUST00000033127
AA Change: W356R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033127
Gene: ENSMUSG00000030839
AA Change: W356R

Domain	Start	End	E-Value	Type
Pfam:RCC1	16	64	7.3e-13	PFAM
Pfam:RCC1_2	51	80	8e-8	PFAM
Pfam:RCC1	67	116	3.9e-11	PFAM
Pfam:RCC1_2	103	132	6.4e-11	PFAM
Pfam:RCC1	119	168	3.3e-10	PFAM
Pfam:RCC1_2	213	243	2.3e-10	PFAM
Pfam:RCC1	230	279	7.5e-8	PFAM
Pfam:RCC1	283	348	5.8e-12	PFAM
Pfam:RCC1	351	401	7.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156147

Predicted Effect

probably benign
Transcript: ENSMUST00000160433

SMART Domains

Protein: ENSMUSP00000124938
Gene: ENSMUSG00000058975

Domain	Start	End	E-Value	Type
BTB	8	112	2.29e-15	SMART
low complexity region	125	149	N/A	INTRINSIC
Pfam:Ion_trans	189	447	6.9e-47	PFAM
Pfam:Ion_trans_2	347	440	1.4e-12	PFAM
low complexity region	449	464	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000216505

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17c	A	T	7: 83,800,622 (GRCm39)	I144N	possibly damaging	Het
Adamts19	T	A	18: 59,096,535 (GRCm39)	H588Q	probably damaging	Het
Ankrd2	A	G	19: 42,028,349 (GRCm39)	K46E	probably damaging	Het
Arhgap10	A	C	8: 78,072,920 (GRCm39)	L513V	possibly damaging	Het
Arhgef12	C	A	9: 42,901,351 (GRCm39)	R817L	probably damaging	Het
Asxl3	T	A	18: 22,650,712 (GRCm39)	N900K	probably damaging	Het
Atp9b	A	T	18: 80,887,826 (GRCm39)		probably benign	Het
Cdc27	T	C	11: 104,398,042 (GRCm39)	N773D	probably damaging	Het
Cep97	A	G	16: 55,750,981 (GRCm39)		probably benign	Het
Dgkd	T	C	1: 87,808,133 (GRCm39)	F67S	probably damaging	Het
Dolk	T	C	2: 30,175,749 (GRCm39)	T99A	probably benign	Het
Egfr	A	T	11: 16,813,014 (GRCm39)	R165W	probably benign	Het
Fat2	T	A	11: 55,172,982 (GRCm39)	D2577V	probably damaging	Het
Hsph1	T	C	5: 149,559,499 (GRCm39)	I15V	probably benign	Het
Idh2	T	C	7: 79,747,693 (GRCm39)	T276A	probably benign	Het
Jag1	T	C	2: 136,926,897 (GRCm39)	Y954C	probably damaging	Het
Kat2a	A	T	11: 100,602,735 (GRCm39)	W118R	probably damaging	Het
Kcnh6	G	T	11: 105,911,522 (GRCm39)	R636L	probably benign	Het
Klk1b16	G	T	7: 43,790,163 (GRCm39)	K144N	probably benign	Het
Lrrk2	T	A	15: 91,696,516 (GRCm39)	L2435I	possibly damaging	Het
Ltbp3	A	G	19: 5,797,867 (GRCm39)	D502G	probably benign	Het
Ltn1	A	T	16: 87,178,359 (GRCm39)	N1623K	probably benign	Het
Mcm10	C	A	2: 5,013,439 (GRCm39)	E64D	probably benign	Het
Med13l	A	G	5: 118,880,400 (GRCm39)	N1164S	probably damaging	Het
Myo1a	A	G	10: 127,556,529 (GRCm39)	N1025D	probably benign	Het
Or2m12	A	T	16: 19,105,450 (GRCm39)	D14E	probably benign	Het
Or8g27	C	T	9: 39,129,427 (GRCm39)	T258I	probably benign	Het
Pdcd11	A	G	19: 47,098,068 (GRCm39)	N785D	probably benign	Het
Psmd8	A	T	7: 28,878,576 (GRCm39)	I81N	probably damaging	Het
Rigi	G	A	4: 40,225,685 (GRCm39)	H194Y	probably benign	Het
Ryr1	C	T	7: 28,774,652 (GRCm39)	G2330R	probably damaging	Het
Scrib	T	C	15: 75,921,084 (GRCm39)	T80A	possibly damaging	Het
Slc22a19	T	C	19: 7,660,300 (GRCm39)	N370S	probably damaging	Het
Syde1	A	G	10: 78,426,015 (GRCm39)	S51P	probably benign	Het
Umodl1	A	T	17: 31,215,233 (GRCm39)	D1019V	possibly damaging	Het
Vmn2r45	A	G	7: 8,486,493 (GRCm39)	M265T	probably benign	Het

Other mutations in Sergef

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Sergef	APN	7	46,284,844 (GRCm39)	critical splice donor site	probably null
IGL00864:Sergef	APN	7	46,165,087 (GRCm39)	splice site	probably null
G1patch:Sergef	UTSW	7	46,282,091 (GRCm39)	splice site	probably null
IGL03014:Sergef	UTSW	7	46,240,180 (GRCm39)	missense	probably damaging	1.00
R0472:Sergef	UTSW	7	46,283,170 (GRCm39)	splice site	probably benign
R1604:Sergef	UTSW	7	46,092,783 (GRCm39)	missense	probably benign	0.00
R1892:Sergef	UTSW	7	46,264,040 (GRCm39)	critical splice donor site	probably null
R3955:Sergef	UTSW	7	46,268,176 (GRCm39)	missense	possibly damaging	0.95
R4032:Sergef	UTSW	7	46,092,726 (GRCm39)	nonsense	probably null
R4953:Sergef	UTSW	7	46,283,259 (GRCm39)	missense	probably benign	0.01
R5140:Sergef	UTSW	7	46,285,026 (GRCm39)	intron	probably benign
R5533:Sergef	UTSW	7	46,264,200 (GRCm39)	missense	possibly damaging	0.94
R5697:Sergef	UTSW	7	46,288,683 (GRCm39)	intron	probably benign
R5930:Sergef	UTSW	7	46,092,888 (GRCm39)	missense	probably benign	0.03
R6477:Sergef	UTSW	7	46,283,250 (GRCm39)	missense	probably benign	0.19
R6725:Sergef	UTSW	7	46,282,091 (GRCm39)	splice site	probably null
R7511:Sergef	UTSW	7	46,264,170 (GRCm39)	missense	probably damaging	1.00
R8052:Sergef	UTSW	7	46,264,062 (GRCm39)	missense	probably damaging	1.00
R9729:Sergef	UTSW	7	46,284,913 (GRCm39)	missense	probably benign	0.00
Z1177:Sergef	UTSW	7	46,289,041 (GRCm39)	intron	probably benign

Posted On

2013-12-03