Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02962:Serbp1'

365405

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 #

IGL02962

Quality Score

Status

Chromosome

Chromosomal Location

67243963-67266286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67244103 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 8 (G8D)

Ref Sequence

ENSEMBL: ENSMUSP00000144933 (fasta)

Gene Model

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

AlphaFold

Q9CY58

Predicted Effect

probably damaging
Transcript: ENSMUST00000042990
AA Change: G8D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000039110
Gene: ENSMUSG00000036371
AA Change: G8D

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 damaging
Transcript: ENSMUST00000203077
AA Change: G8D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144913
Gene: ENSMUSG00000036371
AA Change: G8D

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

possibly damaging
Transcript: ENSMUST00000203233
AA Change: G8D

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144754
Gene: ENSMUSG00000036371
AA Change: G8D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203402

Predicted Effect

probably damaging
Transcript: ENSMUST00000203436
AA Change: G8D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144713
Gene: ENSMUSG00000036371
AA Change: G8D

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 damaging
Transcript: ENSMUST00000205106
AA Change: G8D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144933
Gene: ENSMUSG00000036371
AA Change: G8D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000204294
AA Change: G8D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145517
Gene: ENSMUSG00000036371
AA Change: G8D

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

possibly damaging
Transcript: ENSMUST00000205091
AA Change: G8D

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144772
Gene: ENSMUSG00000036371
AA Change: G8D

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000204293
AA Change: G8D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145472
Gene: ENSMUSG00000036371
AA Change: G8D

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

noncoding transcript
Transcript: ENSMUST00000204944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204810

Predicted Effect

probably benign
Transcript: ENSMUST00000204135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204206

Predicted Effect

probably benign
Transcript: ENSMUST00000204034

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,446,455 (GRCm39)		probably null	Het
9530068E07Rik	T	C	11: 52,294,362 (GRCm39)	V209A	possibly damaging	Het
Abca3	T	A	17: 24,619,383 (GRCm39)	V907E	probably damaging	Het
Acvrl1	T	C	15: 101,033,382 (GRCm39)	Y90H	probably benign	Het
Aff3	T	C	1: 38,574,737 (GRCm39)	D81G	probably damaging	Het
Amn	G	T	12: 111,240,951 (GRCm39)	V152L	probably damaging	Het
Arhgap44	A	G	11: 64,957,987 (GRCm39)		probably benign	Het
Atad5	T	A	11: 79,999,405 (GRCm39)	V895D	possibly damaging	Het
Card9	T	G	2: 26,248,029 (GRCm39)		probably null	Het
Ccer1	T	C	10: 97,529,702 (GRCm39)	S122P	unknown	Het
Ccr2	A	G	9: 123,905,712 (GRCm39)		probably benign	Het
Dsg1a	T	A	18: 20,473,381 (GRCm39)	I818N	possibly damaging	Het
Ear10	G	T	14: 44,160,774 (GRCm39)	L18I	probably damaging	Het
Mertk	A	G	2: 128,619,374 (GRCm39)	Y544C	probably damaging	Het
Miga1	A	T	3: 151,990,978 (GRCm39)		probably benign	Het
Myo18a	T	C	11: 77,669,061 (GRCm39)	V307A	probably damaging	Het
Or5p64	A	T	7: 107,854,910 (GRCm39)	I145N	possibly damaging	Het
Or7a38	T	A	10: 78,752,773 (GRCm39)	L33H	probably damaging	Het
Pou2f3	T	C	9: 43,036,384 (GRCm39)		probably benign	Het
Pramel23	T	A	4: 143,423,910 (GRCm39)	E293V	probably benign	Het
Prickle2	A	C	6: 92,353,403 (GRCm39)	S744A	probably benign	Het
Prkcb	T	A	7: 122,024,270 (GRCm39)		probably null	Het
Prkd2	A	G	7: 16,603,757 (GRCm39)	T813A	probably benign	Het
Prkra	G	A	2: 76,463,891 (GRCm39)	T257M	probably damaging	Het
Rbm18	C	T	2: 36,012,886 (GRCm39)	R102Q	probably damaging	Het
Rbsn	A	G	6: 92,167,307 (GRCm39)	S446P	probably benign	Het
Rpgrip1l	A	T	8: 91,996,990 (GRCm39)	V28D	possibly damaging	Het
Sdccag8	A	T	1: 176,775,928 (GRCm39)	K613I	probably damaging	Het
Slc6a2	T	A	8: 93,699,390 (GRCm39)	Y139*	probably null	Het
Slc7a2	T	A	8: 41,358,621 (GRCm39)	F321L	probably damaging	Het
Slco1b2	G	A	6: 141,594,279 (GRCm39)	S48N	probably damaging	Het
Ssbp2	G	T	13: 91,790,490 (GRCm39)	V118L	possibly damaging	Het
Sugp1	T	A	8: 70,512,512 (GRCm39)		probably benign	Het
Taar5	C	A	10: 23,846,883 (GRCm39)	R94S	possibly damaging	Het
Tgs1	G	T	4: 3,586,181 (GRCm39)	A353S	probably benign	Het
Trav1	A	G	14: 52,666,099 (GRCm39)	E32G	probably damaging	Het
Trp53bp2	T	C	1: 182,259,160 (GRCm39)	V71A	probably benign	Het
Vmn2r50	T	C	7: 9,784,252 (GRCm39)	Y74C	probably damaging	Het
Wars1	A	T	12: 108,841,706 (GRCm39)	M147K	probably damaging	Het

Other mutations in Serbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03131:Serbp1	APN	6	67,258,807 (GRCm39)	critical splice donor site	probably null
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

2015-12-18