Mutagenetix > Incidental Mutation

Incidental Mutation 'R5697:Sergef'

501357

Institutional Source

Beutler Lab

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: 0.360) question?

Stock #

R5697 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46092578-46289231 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 46288683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150835 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033127] [ENSMUST00000135035] [ENSMUST00000216505]

AlphaFold

Q80YD6

Predicted Effect

probably benign
Transcript: ENSMUST00000033127

SMART Domains

Protein: ENSMUSP00000033127
Gene: ENSMUSG00000030839

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: ENSMUST00000125825

Predicted Effect

probably benign
Transcript: ENSMUST00000135035

SMART Domains

Protein: ENSMUSP00000116461
Gene: ENSMUSG00000030839

Domain	Start	End	E-Value	Type
Pfam:RCC1	78	121	1.5e-9	PFAM
Pfam:RCC1_2	108	137	1.8e-8	PFAM
Pfam:RCC1	124	173	2.2e-11	PFAM
Pfam:RCC1_2	160	189	4.4e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137988

Predicted Effect

probably benign
Transcript: ENSMUST00000216505

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	C	14: 29,713,630 (GRCm39)	F550S	possibly damaging	Het
Adam34l	A	T	8: 44,079,616 (GRCm39)	W203R	probably damaging	Het
Adamts15	G	A	9: 30,823,090 (GRCm39)	T326I	probably damaging	Het
Akap9	T	C	5: 4,010,170 (GRCm39)	L309P	possibly damaging	Het
Arfgef1	T	C	1: 10,231,063 (GRCm39)	M1149V	probably benign	Het
Atp6v0a4	C	T	6: 38,027,442 (GRCm39)		probably null	Het
Capn9	C	T	8: 125,315,810 (GRCm39)	H39Y	unknown	Het
Ccn2	A	G	10: 24,473,354 (GRCm39)	T298A	probably benign	Het
Celsr2	G	A	3: 108,311,237 (GRCm39)	Q1425*	probably null	Het
Chd6	A	G	2: 160,859,971 (GRCm39)	L610P	probably damaging	Het
Clasp2	A	T	9: 113,689,190 (GRCm39)	T424S	probably benign	Het
Clec5a	T	C	6: 40,559,204 (GRCm39)	D35G	probably benign	Het
Dnhd1	T	G	7: 105,323,395 (GRCm39)	V599G	probably damaging	Het
Enpep	T	C	3: 129,102,772 (GRCm39)	T395A	probably benign	Het
Evc2	G	T	5: 37,527,952 (GRCm39)	L320F	probably damaging	Het
H2bc22	C	T	13: 21,971,961 (GRCm39)		probably null	Het
Hivep3	C	T	4: 119,954,152 (GRCm39)	H823Y	possibly damaging	Het
Ighv1-59	C	T	12: 115,298,968 (GRCm39)	E29K	possibly damaging	Het
Itsn1	A	G	16: 91,598,477 (GRCm39)	I137V	possibly damaging	Het
Kntc1	A	G	5: 123,903,070 (GRCm39)	T316A	probably benign	Het
Map4k5	T	C	12: 69,877,210 (GRCm39)	T312A	probably benign	Het
Megf6	G	T	4: 154,342,686 (GRCm39)	A642S	probably null	Het
Mrgprb3	G	T	7: 48,292,673 (GRCm39)	L293M	probably damaging	Het
Nes	A	G	3: 87,885,155 (GRCm39)	E1138G	probably damaging	Het
Niban1	T	C	1: 151,576,012 (GRCm39)	F379L	probably damaging	Het
Pias2	A	G	18: 77,220,884 (GRCm39)	K373R	probably damaging	Het
Prss23	A	G	7: 89,159,190 (GRCm39)	F293S	probably damaging	Het
Pzp	A	G	6: 128,502,152 (GRCm39)	Y66H	probably benign	Het
Rnf213	A	G	11: 119,374,720 (GRCm39)	R5061G	possibly damaging	Het
Slc7a1	A	G	5: 148,270,792 (GRCm39)	V558A	probably benign	Het
Smc2	A	G	4: 52,459,045 (GRCm39)	E480G	probably benign	Het
Smyd3	T	G	1: 179,239,247 (GRCm39)	K111T	probably damaging	Het
Tchh	A	T	3: 93,352,350 (GRCm39)	R597*	probably null	Het
Ttc6	G	T	12: 57,724,000 (GRCm39)	V1043L	probably benign	Het
Vmn1r10	T	G	6: 57,090,474 (GRCm39)	L22R	probably damaging	Het
Vmn2r56	T	C	7: 12,449,917 (GRCm39)	D107G	probably damaging	Het
Zfp1005	C	T	2: 150,111,394 (GRCm39)	H695Y	possibly damaging	Het
Zfp365	A	G	10: 67,745,470 (GRCm39)	Y103H	probably benign	Het
Zfp39	G	T	11: 58,780,661 (GRCm39)	H700Q	probably benign	Het
Zfp982	A	T	4: 147,597,046 (GRCm39)	E134D	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
IGL01529:Sergef	APN	7	46,092,942 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- CATATGCATGCTGTCACGC -3'
(R):5'- GAGCAAAGCATCCATTCTGGG -3'

Sequencing Primer
(F):5'- GCATGCTGTCACGCATGTC -3'
(R):5'- ATCCATTCTGGGAAAGCGCTC -3'

Posted On

2017-12-01