Mutagenetix > Incidental Mutation

Incidental Mutation 'R3946:Serbp1'

307705

Institutional Source

Beutler Lab

Gene Symbol

Serbp1

Ensembl Gene

ENSMUSG00000036371

Gene Name

serpine1 mRNA binding protein 1

Synonyms

MMRRC Submission

040827-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.767) question?

Stock #

R3946 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67238176-67297736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67272220 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 223 (D223E)

Ref Sequence

ENSEMBL: ENSMUSP00000144713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042990] [ENSMUST00000203077] [ENSMUST00000203233] [ENSMUST00000203436] [ENSMUST00000204293] [ENSMUST00000204294] [ENSMUST00000205091] [ENSMUST00000205106]

AlphaFold

Q9CY58

Predicted Effect

probably benign
Transcript: ENSMUST00000042990
AA Change: D229E

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039110
Gene: ENSMUSG00000036371
AA Change: D229E

Domain	Start	End	E-Value	Type
Pfam:IHABP4_N	5	152	7.4e-42	PFAM
HABP4_PAI-RBP1	189	313	2.73e-44	SMART
low complexity region	362	384	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203054

Predicted Effect

probably benign
Transcript: ENSMUST00000203077
AA Change: D229E

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000144913
Gene: ENSMUSG00000036371
AA Change: D229E

Domain	Start	End	E-Value	Type
Pfam:IHABP4_N	5	152	6.9e-42	PFAM
HABP4_PAI-RBP1	189	298	3.23e-46	SMART
low complexity region	347	369	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203167

Predicted Effect

probably benign
Transcript: ENSMUST00000203233

SMART Domains

Protein: ENSMUSP00000144754
Gene: ENSMUSG00000036371

Domain	Start	End	E-Value	Type
Pfam:IHABP4_N	5	149	1e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203402

Predicted Effect

probably benign
Transcript: ENSMUST00000203436
AA Change: D223E

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144713
Gene: ENSMUSG00000036371
AA Change: D223E

Domain	Start	End	E-Value	Type
Pfam:IHABP4_N	5	152	1e-41	PFAM
HABP4_PAI-RBP1	189	307	3.66e-45	SMART
low complexity region	356	378	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000204034
AA Change: D169E

Predicted Effect

probably benign
Transcript: ENSMUST00000204135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204206

Predicted Effect

probably benign
Transcript: ENSMUST00000204293
AA Change: D223E

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000145472
Gene: ENSMUSG00000036371
AA Change: D223E

Domain	Start	End	E-Value	Type
Pfam:IHABP4_N	5	152	9.6e-42	PFAM
HABP4_PAI-RBP1	189	292	7.04e-47	SMART
low complexity region	341	363	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204294

SMART Domains

Protein: ENSMUSP00000145517
Gene: ENSMUSG00000036371

Domain	Start	End	E-Value	Type
Pfam:IHABP4_N	5	152	1.4e-38	PFAM
low complexity region	155	190	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204810

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204944

Predicted Effect

probably benign
Transcript: ENSMUST00000205091

SMART Domains

Protein: ENSMUSP00000144772
Gene: ENSMUSG00000036371

Domain	Start	End	E-Value	Type
Pfam:IHABP4_N	5	146	1.3e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205106

SMART Domains

Protein: ENSMUSP00000144933
Gene: ENSMUSG00000036371

Domain	Start	End	E-Value	Type
Pfam:IHABP4_N	5	152	1e-38	PFAM
HABP4_PAI-RBP1	189	268	1.6e-31	SMART
low complexity region	317	339	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.1%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	T	C	13: 64,309,098	I104V	probably damaging	Het
Abi2	A	G	1: 60,453,754	Q328R	probably damaging	Het
Agr3	C	A	12: 35,947,513		probably benign	Het
Brca2	T	A	5: 150,536,704	S481R	probably damaging	Het
Cabin1	T	G	10: 75,745,259	Q411P	probably damaging	Het
Calr3	A	G	8: 72,443,620	Y22H	probably damaging	Het
Caprin1	T	A	2: 103,796,766	I59F	probably damaging	Het
Cdk5rap1	T	C	2: 154,348,716	T442A	probably damaging	Het
Chn2	T	C	6: 54,269,426		probably benign	Het
Cic	C	A	7: 25,272,346	R501S	possibly damaging	Het
Coch	A	G	12: 51,601,812		probably null	Het
Defa25	G	A	8: 21,084,490	V17I	probably null	Het
Dglucy	T	C	12: 100,838,700		probably null	Het
Dtx1	T	G	5: 120,681,286	T616P	possibly damaging	Het
Eef1g	T	C	19: 8,969,977	L171P	probably benign	Het
Fam135a	A	G	1: 24,030,394	S465P	probably damaging	Het
Gm14025	A	G	2: 129,039,601	L135P	probably damaging	Het
Gm14412	A	T	2: 177,314,685	C472*	probably null	Het
Gm7104	T	C	12: 88,286,042		noncoding transcript	Het
Got2	A	G	8: 95,888,230	S26P	probably benign	Het
H2-M11	A	G	17: 36,549,231	I329M	probably damaging	Het
Hmcn2	T	A	2: 31,382,394	D1295E	possibly damaging	Het
Hoxd12	G	T	2: 74,675,427	R114L	probably damaging	Het
Ilkap	A	C	1: 91,387,250	D124E	probably damaging	Het
Med6	T	C	12: 81,581,851	Y88C	probably damaging	Het
Mep1a	A	T	17: 43,475,041	L719*	probably null	Het
Mmp23	T	C	4: 155,652,023	Y187C	probably damaging	Het
Myo1g	A	G	11: 6,520,760	M32T	possibly damaging	Het
Ncstn	T	C	1: 172,067,494	E614G	probably benign	Het
Nr2c2	C	T	6: 92,163,138	R464W	probably damaging	Het
Olfr1309	G	A	2: 111,983,297	T259M	possibly damaging	Het
Otub2	T	A	12: 103,392,826	L58*	probably null	Het
Pcdhga12	G	A	18: 37,767,629	V505I	probably benign	Het
Pcdhga9	T	A	18: 37,737,844	V242D	probably damaging	Het
Pex1	C	T	5: 3,626,084	L891F	probably damaging	Het
Pgm1	C	T	5: 64,112,061	T497I	probably benign	Het
Pikfyve	T	C	1: 65,196,681	F171L	probably damaging	Het
Pilrb1	T	G	5: 137,857,392	K79T	probably benign	Het
Pin1	C	T	9: 20,655,364	R21W	probably damaging	Het
Ptprq	A	G	10: 107,686,392		probably benign	Het
Rad17	G	A	13: 100,622,863	A552V	possibly damaging	Het
Rbbp8	A	G	18: 11,718,868	T249A	probably benign	Het
Rtkn	A	T	6: 83,135,976	I10F	probably benign	Het
Scube2	T	A	7: 109,857,590	I103F	possibly damaging	Het
Sec23b	A	G	2: 144,581,973	H514R	probably benign	Het
Slc14a1	C	A	18: 78,111,392	V260L	probably benign	Het
Slc22a23	A	G	13: 34,183,126	I633T	probably damaging	Het
Stk19	A	T	17: 34,824,747		probably benign	Het
Svs2	T	C	2: 164,237,127	M287V	probably benign	Het
Syne3	T	A	12: 104,958,066	Q358L	probably damaging	Het
Synj1	A	G	16: 91,010,096	F58L	possibly damaging	Het
Tg	T	C	15: 66,674,023	V198A	probably damaging	Het
Tle4	A	T	19: 14,597,388	Y9N	probably damaging	Het
Tmem57	A	G	4: 134,804,481	Y626H	probably damaging	Het
Tmx3	G	A	18: 90,524,335	A186T	possibly damaging	Het
Traf3	G	A	12: 111,255,245	S280N	possibly damaging	Het
Trmt13	A	G	3: 116,581,518	F447S	probably damaging	Het
Trp53bp1	T	A	2: 121,228,626	H918L	probably damaging	Het
Ush2a	T	G	1: 188,728,504	V2654G	probably benign	Het
Vmn2r25	A	G	6: 123,840,098	Y175H	probably damaging	Het
Zfp335	T	C	2: 164,892,189	D1330G	probably damaging	Het

Other mutations in Serbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02962:Serbp1	APN	6	67,267,119 (GRCm38)	missense	probably damaging	1.00
IGL03131:Serbp1	APN	6	67,281,823 (GRCm38)	critical splice donor site	probably null
R0193:Serbp1	UTSW	6	67,272,884 (GRCm38)	makesense	probably null
R1448:Serbp1	UTSW	6	67,277,920 (GRCm38)	missense	probably damaging	1.00
R4980:Serbp1	UTSW	6	67,277,888 (GRCm38)	missense	probably benign	0.16
R5895:Serbp1	UTSW	6	67,272,886 (GRCm38)	makesense	probably null
R6210:Serbp1	UTSW	6	67,272,867 (GRCm38)	utr 3 prime	probably benign
R8702:Serbp1	UTSW	6	67,267,172 (GRCm38)	missense	probably damaging	1.00
R9191:Serbp1	UTSW	6	67,272,854 (GRCm38)	missense	probably benign
R9295:Serbp1	UTSW	6	67,271,224 (GRCm38)	missense	probably damaging	0.98
R9441:Serbp1	UTSW	6	67,267,041 (GRCm38)	start gained	probably benign
R9461:Serbp1	UTSW	6	67,267,329 (GRCm38)	missense	probably benign	0.12

Predicted Primers

PCR Primer
(F):5'- GCAAGCGTGAATTTGATAGGC -3'
(R):5'- TTCAGGCCTGTATACACATCC -3'

Sequencing Primer
(F):5'- CAAGCGTGAATTTGATAGGCATAGTG -3'
(R):5'- AGCAGTTTTGGTTTCACTG -3'

Posted On

2015-04-17