Mutagenetix > Incidental Mutation

Incidental Mutation 'R9729:Sergef'

731219

Institutional Source

Beutler Lab

Gene Symbol

Sergef

Ensembl Gene

ENSMUSG00000030839

Gene Name

secretion regulating guanine nucleotide exchange factor

Synonyms

DelGEF, Gef, Gnefr

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9729 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46092578-46289231 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46284913 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 43 (S43N)

Ref Sequence

ENSEMBL: ENSMUSP00000033127 (fasta)

Gene Model

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

AlphaFold

Q80YD6

Predicted Effect

probably benign
Transcript: ENSMUST00000033127
AA Change: S43N

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

SMART Domains

Protein: ENSMUSP00000033127
Gene: ENSMUSG00000030839
AA Change: S43N

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

probably benign
Transcript: ENSMUST00000135035
AA Change: S100N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000116461
Gene: ENSMUSG00000030839
AA Change: S100N

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

probably benign
Transcript: ENSMUST00000216505
AA Change: S43N

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	T	13: 54,700,519 (GRCm39)	M273K	probably benign	Het
Aar2	A	G	2: 156,393,361 (GRCm39)	D250G	probably benign	Het
Acly	T	A	11: 100,407,711 (GRCm39)	Y213F	probably benign	Het
Adgrg5	G	A	8: 95,668,133 (GRCm39)	M399I		Het
Adhfe1	T	C	1: 9,623,634 (GRCm39)	L95P	probably damaging	Het
Ano7	G	A	1: 93,322,180 (GRCm39)	C396Y	probably damaging	Het
Apob	T	A	12: 8,066,125 (GRCm39)	Y4365N	probably damaging	Het
Arfgap3	C	T	15: 83,192,366 (GRCm39)	R411H	probably damaging	Het
Bbs7	T	C	3: 36,661,818 (GRCm39)	Y127C	probably damaging	Het
Cadps2	T	C	6: 23,382,982 (GRCm39)	T793A	probably benign	Het
Casp8ap2	T	A	4: 32,643,807 (GRCm39)	V960E	possibly damaging	Het
Cd200l1	G	T	16: 45,264,237 (GRCm39)	T107N	possibly damaging	Het
Cdkl3	A	G	11: 51,895,770 (GRCm39)	T6A	probably benign	Het
Cdkn2aip	T	C	8: 48,166,654 (GRCm39)	D51G	probably benign	Het
Cdpf1	G	T	15: 85,692,527 (GRCm39)	S52*	probably null	Het
Celf5	T	A	10: 81,303,925 (GRCm39)	D177V	probably damaging	Het
Cep164	A	G	9: 45,682,897 (GRCm39)	V931A	probably damaging	Het
Cog6	T	C	3: 52,900,907 (GRCm39)	D457G	probably damaging	Het
Col4a2	G	T	8: 11,496,157 (GRCm39)	V1593L	probably benign	Het
Dlg5	C	G	14: 24,204,681 (GRCm39)	M1287I	probably benign	Het
Dmrt1	T	C	19: 25,523,362 (GRCm39)	S238P	probably benign	Het
Dpysl2	A	G	14: 67,099,927 (GRCm39)	M103T	probably benign	Het
Emsy	C	A	7: 98,262,256 (GRCm39)	A608S	probably benign	Het
Entr1	A	G	2: 26,278,645 (GRCm39)	F21S	unknown	Het
Entrep2	C	T	7: 64,806,056 (GRCm39)	G6S	probably benign	Het
Exoc5	A	T	14: 49,253,086 (GRCm39)	C576S	probably damaging	Het
F830016B08Rik	G	A	18: 60,433,558 (GRCm39)	V214M	possibly damaging	Het
Fignl1	A	G	11: 11,752,219 (GRCm39)	S279P	probably benign	Het
Gimap1	A	G	6: 48,719,386 (GRCm39)	R71G	unknown	Het
Gm26727	A	T	2: 67,263,263 (GRCm39)	M88K	probably damaging	Het
Gm45861	T	A	8: 28,045,436 (GRCm39)	W1066R	unknown	Het
Gpr15	A	G	16: 58,538,249 (GRCm39)	L280S	possibly damaging	Het
Grin1	C	T	2: 25,187,422 (GRCm39)	W629*	probably null	Het
Grk5	C	T	19: 61,078,467 (GRCm39)	P508L	possibly damaging	Het
Hgf	A	T	5: 16,766,029 (GRCm39)	D55V	probably damaging	Het
Hipk1	T	A	3: 103,668,890 (GRCm39)	D502V	probably damaging	Het
Kmt2c	T	C	5: 25,489,758 (GRCm39)	K4394E	probably damaging	Het
Llgl2	A	G	11: 115,740,467 (GRCm39)	T388A	probably damaging	Het
Lsm14a	G	T	7: 34,088,898 (GRCm39)	S2R	probably damaging	Het
Madd	A	T	2: 91,000,544 (GRCm39)	M507K	possibly damaging	Het
Map2k3	G	T	11: 60,837,472 (GRCm39)	V191L		Het
Mapk8ip1	A	G	2: 92,217,060 (GRCm39)	S421P	probably damaging	Het
Marchf7	C	T	2: 60,064,785 (GRCm39)	R354*	probably null	Het
Myc	T	G	15: 61,859,935 (GRCm39)	C204G	probably damaging	Het
Nampt	A	G	12: 32,900,528 (GRCm39)	H491R	possibly damaging	Het
Noct	C	T	3: 51,157,267 (GRCm39)	Q202*	probably null	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or10b1	T	A	10: 78,355,949 (GRCm39)	F169Y	probably damaging	Het
Osbpl10	G	A	9: 115,052,804 (GRCm39)	V451M	probably damaging	Het
Osr2	T	A	15: 35,303,061 (GRCm39)	F312Y	probably benign	Het
Parp16	A	T	9: 65,137,097 (GRCm39)	I108F	possibly damaging	Het
Parp4	A	G	14: 56,885,888 (GRCm39)	T1656A	unknown	Het
Pnpla8	A	G	12: 44,330,657 (GRCm39)	I374V	probably benign	Het
Prss23	T	C	7: 89,159,931 (GRCm39)	N46S	probably benign	Het
Ptger2	T	C	14: 45,226,476 (GRCm39)	W19R	possibly damaging	Het
Rbl2	T	C	8: 91,805,527 (GRCm39)	S195P	probably damaging	Het
Rnf169	C	T	7: 99,575,477 (GRCm39)	V373I	probably damaging	Het
Sclt1	C	A	3: 41,629,837 (GRCm39)	E325*	probably null	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,777 (GRCm39)		probably benign	Het
Slc3a2	T	C	19: 8,685,370 (GRCm39)	D472G	probably damaging	Het
Slc43a3	T	C	2: 84,780,800 (GRCm39)	F342L	probably benign	Het
Slc44a4	A	T	17: 35,140,670 (GRCm39)	I288F	probably benign	Het
Snupn	T	A	9: 56,877,915 (GRCm39)	N151K	possibly damaging	Het
Srbd1	A	T	17: 86,437,550 (GRCm39)	D264E	probably benign	Het
Srpra	A	T	9: 35,125,569 (GRCm39)	T378S	probably benign	Het
Stat4	A	G	1: 52,141,762 (GRCm39)	D613G	possibly damaging	Het
Sycp2l	C	T	13: 41,326,132 (GRCm39)	P246L		Het
Tcf20	T	C	15: 82,736,037 (GRCm39)	R1805G	probably benign	Het
Tob1	T	A	11: 94,104,880 (GRCm39)	F139I	probably damaging	Het
Traj9	A	G	14: 54,446,871 (GRCm39)	T8A	unknown	Het
Trank1	G	T	9: 111,220,537 (GRCm39)	D2425Y	probably damaging	Het
Ttn	G	A	2: 76,738,071 (GRCm39)	S4202L	unknown	Het
Ttn	A	T	2: 76,577,267 (GRCm39)	M24542K	probably damaging	Het
Vcam1	T	C	3: 115,911,105 (GRCm39)	Y431C	probably damaging	Het
Vcpkmt	G	A	12: 69,627,936 (GRCm39)	R175C	probably damaging	Het
Vmn2r51	A	T	7: 9,839,479 (GRCm39)	D36E	probably benign	Het
Vmn2r61	A	G	7: 41,949,917 (GRCm39)	E779G	probably damaging	Het
Zfp831	T	C	2: 174,487,938 (GRCm39)	L871P	possibly damaging	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
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
Z1177:Sergef	UTSW	7	46,289,041 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGCTCTCTGAGAAATGTCAAAG -3'
(R):5'- AATCGTGGCGCTCACAGATG -3'

Sequencing Primer
(F):5'- GACAAATGAATGGCAAGGTATCATCC -3'
(R):5'- CCTCCTGAGAGTGGCTACTGAAATG -3'

Posted On

2022-10-06