Mutagenetix > Incidental Mutation

Incidental Mutation 'G1patch:Sergef'

660688

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 #

G1patch (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46092578-46289231 bp(-) (GRCm39)

Type of Mutation

splice site (15 bp from exon)

DNA Base Change (assembly)

G to A at 46282091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116461 (fasta)

Gene Model

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

AlphaFold

Q80YD6

Predicted Effect

probably benign
Transcript: ENSMUST00000033127
AA Change: A147V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033127
Gene: ENSMUSG00000030839
AA Change: A147V

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 null
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
AA Change: A147V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Meta Mutation Damage Score

0.0762

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.7%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 114,469,833 (GRCm39)	Y623C	probably damaging	Het
Adgrv1	T	C	13: 81,585,676 (GRCm39)	E4596G	probably damaging	Het
Adgrv1	A	T	13: 81,641,329 (GRCm39)	C3267S	probably damaging	Het
Ankrd40	T	G	11: 94,225,641 (GRCm39)	V224G	probably benign	Het
Ap3s2	C	T	7: 79,570,390 (GRCm39)		probably benign	Het
Apip	T	A	2: 102,922,870 (GRCm39)	D229E	possibly damaging	Het
Atp2b4	C	T	1: 133,634,725 (GRCm39)	R1168H	probably benign	Het
Bcan	T	C	3: 87,902,791 (GRCm39)	K329R	possibly damaging	Het
Camk1g	T	C	1: 193,032,628 (GRCm39)	D261G	possibly damaging	Het
Ccdc30	T	A	4: 119,188,796 (GRCm39)	Q490L	probably damaging	Het
Ccdc83	A	G	7: 89,896,261 (GRCm39)	W103R	probably damaging	Het
Ctsl	T	A	13: 64,514,437 (GRCm39)	R69*	probably null	Het
Dchs1	C	T	7: 105,408,000 (GRCm39)	R1944H	probably damaging	Het
Fgb	T	C	3: 82,951,098 (GRCm39)	Y305C	probably damaging	Het
Fras1	T	A	5: 96,929,199 (GRCm39)	Y3868N	possibly damaging	Het
Gal3st2	T	A	1: 93,801,424 (GRCm39)	S27T	probably benign	Het
Galnt13	A	G	2: 54,745,244 (GRCm39)	D228G	probably damaging	Het
Gk5	A	T	9: 96,037,523 (GRCm39)	T346S	probably benign	Het
Gnrhr	T	C	5: 86,333,172 (GRCm39)	I233V	probably damaging	Het
Greb1	T	C	12: 16,738,568 (GRCm39)	Y1465C	probably damaging	Het
H6pd	A	G	4: 150,080,815 (GRCm39)	L10P	probably damaging	Het
Hspg2	G	A	4: 137,242,618 (GRCm39)	G611E	probably damaging	Het
Ighv7-4	A	T	12: 114,186,489 (GRCm39)	D94E	probably damaging	Het
Lamb3	T	C	1: 192,986,890 (GRCm39)	Y59H	probably benign	Het
Msantd1	C	T	5: 35,078,765 (GRCm39)	T100I	probably damaging	Het
Msx3	T	A	7: 139,628,659 (GRCm39)		probably benign	Het
Mttp	C	A	3: 137,812,999 (GRCm39)	A559S	probably damaging	Het
Myh1	C	G	11: 67,092,719 (GRCm39)	D4E	probably damaging	Het
Or2ah1	A	G	2: 85,654,134 (GRCm39)	K273R	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or4k45	C	T	2: 111,395,252 (GRCm39)	C179Y	probably damaging	Het
Or52e19	A	T	7: 102,959,561 (GRCm39)	D211V	probably damaging	Het
Pcdhac1	T	C	18: 37,223,381 (GRCm39)	Y65H	probably damaging	Het
Pcdhga8	A	T	18: 37,860,315 (GRCm39)	Y457F	probably damaging	Het
Pi4ka	A	G	16: 17,194,846 (GRCm39)	L184P	possibly damaging	Het
Pja2	A	T	17: 64,596,962 (GRCm39)	M514K	probably damaging	Het
Plcxd2	T	C	16: 45,792,488 (GRCm39)	N284D	probably damaging	Het
Polr3d	A	T	14: 70,678,577 (GRCm39)	M129K	probably benign	Het
Ppp1r42	T	G	1: 10,069,732 (GRCm39)	E110A	probably damaging	Het
Prdm2	G	A	4: 142,859,471 (GRCm39)	T1273M	possibly damaging	Het
Prelid2	A	G	18: 42,045,514 (GRCm39)	I132T	possibly damaging	Het
Slc24a2	C	A	4: 87,145,119 (GRCm39)		probably null	Het
Stxbp3	A	T	3: 108,734,916 (GRCm39)	D24E	possibly damaging	Het
Tas2r123	A	T	6: 132,824,801 (GRCm39)	M233L	probably damaging	Het
Thsd7a	G	A	6: 12,555,630 (GRCm39)	H85Y	possibly damaging	Het
Tlr2	T	A	3: 83,745,603 (GRCm39)	E160V	probably benign	Het
Tmem171	A	T	13: 98,828,678 (GRCm39)	C157*	probably null	Het
Trpm3	T	C	19: 22,903,392 (GRCm39)	Y1051H	probably damaging	Het
Vmn2r28	A	G	7: 5,491,408 (GRCm39)	F280L	probably benign	Het
Xpo7	A	T	14: 70,914,253 (GRCm39)	Y748N	probably damaging	Het
Zan	T	C	5: 137,436,782 (GRCm39)	S2024G	unknown	Het
Zfhx2	A	T	14: 55,301,539 (GRCm39)	Y2148*	probably null	Het
Zscan4-ps1	T	C	7: 10,799,906 (GRCm39)	T328A	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
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

Predicted Primers

PCR Primer
(F):5'- AGCAGTGATCCCCTCAAACTG -3'
(R):5'- ATGTTCGGTCTGCAGGAATAAAAG -3'

Sequencing Primer
(F):5'- GTGATCCCCTCAAACTGATTTTTAAC -3'
(R):5'- CAGCCAGAAGGTTTTTGGGC -3'

Posted On

2021-02-01