Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03131:Serbp1'

410362

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serbp1

Ensembl Gene

ENSMUSG00000036371

Gene Name

serpine1 mRNA binding protein 1

Synonyms

9330147J08Rik, 1200009K13Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.594) question?

Stock #

IGL03131

Quality Score

Status

Chromosome

Chromosomal Location

67243963-67266286 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 67258807 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144933 (fasta)

Gene Model

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

AlphaFold

Q9CY58

Predicted Effect

probably null
Transcript: ENSMUST00000042990

SMART Domains

Protein: ENSMUSP00000039110
Gene: ENSMUSG00000036371

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

probably null
Transcript: ENSMUST00000203077

SMART Domains

Protein: ENSMUSP00000144913
Gene: ENSMUSG00000036371

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

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

probably null
Transcript: ENSMUST00000203436

SMART Domains

Protein: ENSMUSP00000144713
Gene: ENSMUSG00000036371

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

probably benign
Transcript: ENSMUST00000204135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204206

Predicted Effect

probably null
Transcript: ENSMUST00000204293

SMART Domains

Protein: ENSMUSP00000145472
Gene: ENSMUSG00000036371

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 null
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

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 null
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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,473,251 (GRCm39)	R135S	unknown	Het
A1bg	T	C	15: 60,791,605 (GRCm39)	Y277C	probably damaging	Het
Abca12	A	T	1: 71,385,861 (GRCm39)	F252L	probably benign	Het
Abcd3	A	T	3: 121,575,640 (GRCm39)		probably benign	Het
Acvr2b	C	A	9: 119,260,350 (GRCm39)	F364L	possibly damaging	Het
Adamts12	T	C	15: 11,345,650 (GRCm39)	C1564R	probably damaging	Het
Agap3	A	G	5: 24,682,130 (GRCm39)	T392A	probably benign	Het
Ano1	A	G	7: 144,157,322 (GRCm39)	F767L	possibly damaging	Het
Atg10	C	A	13: 91,085,412 (GRCm39)	R179I	probably null	Het
Bsph1	A	T	7: 13,207,012 (GRCm39)	K129N	probably damaging	Het
Calml4	A	G	9: 62,782,765 (GRCm39)	D77G	probably benign	Het
Cc2d1a	T	A	8: 84,870,056 (GRCm39)	K153M	probably damaging	Het
Col4a2	G	A	8: 11,475,979 (GRCm39)	V672I	probably benign	Het
Crnkl1	T	C	2: 145,774,178 (GRCm39)	K95R	probably benign	Het
Crtap	T	C	9: 114,209,072 (GRCm39)	D324G	possibly damaging	Het
Csmd1	C	T	8: 16,138,231 (GRCm39)	G1607E	probably damaging	Het
Dcbld2	T	G	16: 58,272,051 (GRCm39)	I369R	probably benign	Het
Dmc1	T	A	15: 79,452,892 (GRCm39)	I246L	probably benign	Het
Dock1	G	T	7: 134,475,912 (GRCm39)	V896L	possibly damaging	Het
Eftud2	G	A	11: 102,761,009 (GRCm39)	T112M	probably damaging	Het
F5	A	T	1: 163,989,388 (GRCm39)	I97F	possibly damaging	Het
Fasn	C	T	11: 120,701,550 (GRCm39)	V1939M	possibly damaging	Het
Gpatch2l	T	C	12: 86,328,285 (GRCm39)	V414A	probably benign	Het
Gpd2	T	C	2: 57,228,855 (GRCm39)		probably benign	Het
Gria4	T	G	9: 4,432,876 (GRCm39)	N769T	probably damaging	Het
Gtf3c2	A	T	5: 31,314,964 (GRCm39)	F885I	probably damaging	Het
Ifi209	C	T	1: 173,468,800 (GRCm39)	T210I	possibly damaging	Het
Kmt2c	A	G	5: 25,520,359 (GRCm39)	V1917A	probably benign	Het
Mad1l1	G	A	5: 140,293,458 (GRCm39)	A120V	probably benign	Het
Mef2c	T	C	13: 83,810,494 (GRCm39)	I382T	probably damaging	Het
Ms4a14	A	T	19: 11,285,056 (GRCm39)	L171I	probably benign	Het
Myf6	T	A	10: 107,330,132 (GRCm39)	Q145L	probably damaging	Het
Myh3	G	A	11: 66,981,935 (GRCm39)		probably benign	Het
Nbas	A	G	12: 13,329,417 (GRCm39)	I121V	probably benign	Het
Ncoa2	A	T	1: 13,247,398 (GRCm39)	S342T	probably damaging	Het
Nlrp1b	C	T	11: 71,052,741 (GRCm39)	D896N	possibly damaging	Het
Prss41	A	G	17: 24,061,498 (GRCm39)	Y98H	probably benign	Het
Ptpn13	A	T	5: 103,665,425 (GRCm39)	T450S	probably benign	Het
Rab39	G	A	9: 53,597,861 (GRCm39)	R135C	probably damaging	Het
Radil	A	G	5: 142,481,097 (GRCm39)	V570A	probably damaging	Het
Sbno1	C	T	5: 124,526,668 (GRCm39)	R949Q	probably damaging	Het
Sec61a2	T	A	2: 5,887,689 (GRCm39)	K98*	probably null	Het
Serpinb3c	G	T	1: 107,199,457 (GRCm39)	Q355K	probably benign	Het
Slc34a3	T	G	2: 25,121,246 (GRCm39)	D307A	probably benign	Het
Smarcad1	T	A	6: 65,051,937 (GRCm39)	S357T	probably damaging	Het
Spag17	G	A	3: 99,918,075 (GRCm39)	D353N	possibly damaging	Het
Spdl1	T	A	11: 34,721,592 (GRCm39)	Q39L	possibly damaging	Het
Syne2	A	C	12: 76,104,264 (GRCm39)	Q5485P	probably damaging	Het
Synj1	C	A	16: 90,785,056 (GRCm39)	V227F	probably damaging	Het
Syt12	T	C	19: 4,506,882 (GRCm39)	T88A	probably benign	Het
Tasor	C	T	14: 27,183,136 (GRCm39)	Q532*	probably null	Het
Tlr12	A	G	4: 128,509,670 (GRCm39)	F860S	probably damaging	Het
Trdn	C	A	10: 33,274,410 (GRCm39)	S461*	probably null	Het
Trip4	G	A	9: 65,764,727 (GRCm39)	P413S	probably benign	Het
Wdr17	A	G	8: 55,149,302 (GRCm39)		probably null	Het
Wnt9a	T	C	11: 59,221,855 (GRCm39)	L251P	probably damaging	Het
Xrcc1	A	T	7: 24,272,719 (GRCm39)	K618*	probably null	Het
Zfp759	T	C	13: 67,286,728 (GRCm39)	L93P	probably damaging	Het

Other mutations in Serbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02962:Serbp1	APN	6	67,244,103 (GRCm39)	missense	probably damaging	1.00
R0193:Serbp1	UTSW	6	67,249,868 (GRCm39)	makesense	probably null
R1448:Serbp1	UTSW	6	67,254,904 (GRCm39)	missense	probably damaging	1.00
R3946:Serbp1	UTSW	6	67,249,204 (GRCm39)	missense	probably benign	0.39
R4980:Serbp1	UTSW	6	67,254,872 (GRCm39)	missense	probably benign	0.16
R5895:Serbp1	UTSW	6	67,249,870 (GRCm39)	makesense	probably null
R6210:Serbp1	UTSW	6	67,249,851 (GRCm39)	utr 3 prime	probably benign
R8702:Serbp1	UTSW	6	67,244,156 (GRCm39)	missense	probably damaging	1.00
R9191:Serbp1	UTSW	6	67,249,838 (GRCm39)	missense	probably benign
R9295:Serbp1	UTSW	6	67,248,208 (GRCm39)	missense	probably damaging	0.98
R9441:Serbp1	UTSW	6	67,244,025 (GRCm39)	start gained	probably benign
R9461:Serbp1	UTSW	6	67,244,313 (GRCm39)	missense	probably benign	0.12

Posted On

2016-08-02