Mutagenetix > Incidental Mutation

Incidental Mutation 'R4980:Serbp1'

384741

Institutional Source

Beutler Lab

Gene Symbol

Serbp1

Ensembl Gene

ENSMUSG00000036371

Gene Name

serpine1 mRNA binding protein 1

Synonyms

9330147J08Rik, 1200009K13Rik

MMRRC Submission

042575-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.594) question?

Stock #

R4980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67243963-67266286 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67254872 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 294 (D294N)

Ref Sequence

ENSEMBL: ENSMUSP00000145472 (fasta)

Gene Model

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

AlphaFold

Q9CY58

Predicted Effect

probably benign
Transcript: ENSMUST00000042990
AA Change: D315N

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000039110
Gene: ENSMUSG00000036371
AA Change: D315N

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: D300N

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000144913
Gene: ENSMUSG00000036371
AA Change: D300N

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

probably benign
Transcript: ENSMUST00000203436
AA Change: D309N

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000144713
Gene: ENSMUSG00000036371
AA Change: D309N

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

probably benign
Transcript: ENSMUST00000204293
AA Change: D294N

PolyPhen 2 Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145472
Gene: ENSMUSG00000036371
AA Change: D294N

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: ENSMUST00000205106
AA Change: D270N

PolyPhen 2 Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000144933
Gene: ENSMUSG00000036371
AA Change: D270N

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 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: ENSMUST00000204206

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,885,292 (GRCm39)	C189S	probably damaging	Het
Abcd3	A	T	3: 121,562,917 (GRCm39)		probably null	Het
Adar	T	C	3: 89,638,121 (GRCm39)	S2P	probably benign	Het
Amhr2	T	A	15: 102,362,765 (GRCm39)	S511T	probably benign	Het
Atg16l1	T	C	1: 87,694,553 (GRCm39)	S77P	possibly damaging	Het
Bltp1	T	C	3: 36,997,461 (GRCm39)	S1173P	probably damaging	Het
Cacna1i	T	C	15: 80,232,650 (GRCm39)	F218L	probably damaging	Het
Cd5l	A	T	3: 87,274,908 (GRCm39)	H149L	probably benign	Het
Cdc14a	T	A	3: 116,186,506 (GRCm39)	R92*	probably null	Het
Col19a1	T	C	1: 24,565,564 (GRCm39)	T256A	unknown	Het
Col22a1	C	T	15: 71,673,792 (GRCm39)	A975T	unknown	Het
Cracd	A	T	5: 77,005,421 (GRCm39)	D594V	unknown	Het
Cyp20a1	T	C	1: 60,402,373 (GRCm39)	W153R	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dpyd	T	C	3: 118,710,767 (GRCm39)	S392P	probably damaging	Het
Dst	A	T	1: 34,295,369 (GRCm39)	L957F	probably damaging	Het
Emilin2	G	T	17: 71,560,066 (GRCm39)	D970E	possibly damaging	Het
Fbn2	T	C	18: 58,143,703 (GRCm39)	E2784G	probably benign	Het
Fbxw10	T	C	11: 62,738,583 (GRCm39)	I159T	possibly damaging	Het
Fgfr2	T	C	7: 129,802,810 (GRCm39)	Y192C	probably damaging	Het
Gm7298	A	G	6: 121,736,198 (GRCm39)		probably null	Het
Igf2r	C	T	17: 12,922,247 (GRCm39)		probably null	Het
Ints4	T	C	7: 97,151,057 (GRCm39)		probably null	Het
Kcnf1	A	G	12: 17,225,012 (GRCm39)	F403S	possibly damaging	Het
Kif11	C	T	19: 37,375,819 (GRCm39)	Q211*	probably null	Het
Kif13a	A	G	13: 46,906,222 (GRCm39)	S574P	possibly damaging	Het
Kifc3	T	A	8: 95,853,177 (GRCm39)	T60S	probably benign	Het
Krt82	T	C	15: 101,453,534 (GRCm39)	D284G	possibly damaging	Het
Lancl1	T	C	1: 67,043,968 (GRCm39)	Y344C	probably benign	Het
Ltbp3	A	T	19: 5,803,955 (GRCm39)		probably null	Het
Map3k4	A	G	17: 12,490,958 (GRCm39)	F158L	probably damaging	Het
Mast2	A	G	4: 116,174,948 (GRCm39)	Y469H	probably damaging	Het
Mcf2l	T	G	8: 13,034,883 (GRCm39)	F97C	probably damaging	Het
Mpeg1	T	C	19: 12,438,904 (GRCm39)	S121P	probably damaging	Het
Mycbp2	A	T	14: 103,497,821 (GRCm39)		probably null	Het
Myt1l	A	T	12: 29,877,038 (GRCm39)	T230S	unknown	Het
Naa15	T	C	3: 51,366,173 (GRCm39)		probably null	Het
Nans	G	A	4: 46,492,764 (GRCm39)	R64Q	probably benign	Het
Nbea	C	T	3: 55,554,772 (GRCm39)		probably null	Het
Nbea	T	C	3: 55,860,466 (GRCm39)	E1870G	probably benign	Het
Ncapd3	T	C	9: 26,974,591 (GRCm39)	S688P	probably damaging	Het
Nedd4l	G	T	18: 65,213,131 (GRCm39)	E96*	probably null	Het
Or56a5	T	A	7: 104,793,431 (GRCm39)	Y23F	probably benign	Het
Or5b21	A	T	19: 12,839,384 (GRCm39)	M82L	probably benign	Het
Pdxk	A	G	10: 78,287,318 (GRCm39)	L81P	probably damaging	Het
Plec	T	A	15: 76,077,495 (GRCm39)	R269*	probably null	Het
Plec	T	C	15: 76,090,065 (GRCm39)	I92V	probably damaging	Het
Ppara	T	C	15: 85,671,434 (GRCm39)	Y112H	probably damaging	Het
Ppp2r2c	A	T	5: 37,109,732 (GRCm39)	M364L	probably benign	Het
Prag1	A	C	8: 36,606,740 (GRCm39)	H827P	probably damaging	Het
Ptprg	A	G	14: 12,154,421 (GRCm38)	N714S	probably benign	Het
Rbp2	G	A	9: 98,380,894 (GRCm39)	V67I	probably benign	Het
Rictor	T	A	15: 6,811,141 (GRCm39)	Y835N	probably damaging	Het
Ripply2	A	G	9: 86,901,747 (GRCm39)	Q91R	probably damaging	Het
Sap130	C	A	18: 31,782,699 (GRCm39)	H203Q	possibly damaging	Het
Sema4d	T	C	13: 51,865,270 (GRCm39)	Y358C	probably damaging	Het
Slc16a10	A	G	10: 39,956,801 (GRCm39)	W113R	probably damaging	Het
Slc6a6	A	G	6: 91,703,041 (GRCm39)	Y138C	probably damaging	Het
Spag11a	T	C	8: 19,207,962 (GRCm39)	M1T	probably null	Het
Spata20	T	C	11: 94,375,435 (GRCm39)	M120V	probably damaging	Het
Stk32a	A	C	18: 43,447,113 (GRCm39)	K357Q	probably benign	Het
Tasor	T	A	14: 27,183,382 (GRCm39)	L614I	probably benign	Het
Trmo	A	T	4: 46,389,364 (GRCm39)	C10*	probably null	Het
Tsc22d1	T	G	14: 76,655,696 (GRCm39)	V643G	probably benign	Het
Vangl2	A	T	1: 171,837,132 (GRCm39)	L226I	probably damaging	Het
Vps35l	T	A	7: 118,406,232 (GRCm39)	D605E	probably damaging	Het
Wnt3a	A	T	11: 59,140,626 (GRCm39)	C297S	probably damaging	Het
Wwc1	T	C	11: 35,778,930 (GRCm39)	K301E	possibly damaging	Het
Zfhx4	C	T	3: 5,464,039 (GRCm39)	T1399I	possibly damaging	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- TACCAAGTCTGTCCGTGTTC -3'
(R):5'- CCTGAATGTTTTCCTTTCTGAGCAAG -3'

Sequencing Primer
(F):5'- ACCAAGTCTGTCCGTGTTCTTAAC -3'
(R):5'- CACCTATAAGGGGATCTGATGCC -3'

Posted On

2016-05-10