Mutagenetix > Incidental Mutation

Incidental Mutation 'R6725:Sergef'

529821

Institutional Source

Beutler Lab

Gene Symbol

Sergef

Ensembl Gene

ENSMUSG00000030839

Gene Name

secretion regulating guanine nucleotide exchange factor

Synonyms

DelGEF, Gef, Gnefr

MMRRC Submission

044843-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.360) question?

Stock #

R6725 (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
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
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

2018-08-01