Mutagenetix > Incidental Mutation

Incidental Mutation 'R0552:Ssbp4'

45242

Institutional Source

Beutler Lab

Gene Symbol

Ssbp4

Ensembl Gene

ENSMUSG00000070003

Gene Name

single stranded DNA binding protein 4

Synonyms

Ssdp4, 1210002E11Rik

MMRRC Submission

038744-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.365) question?

Stock #

R0552 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71050135-71061084 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71052509 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 154 (I154T)

Ref Sequence

ENSEMBL: ENSMUSP00000148255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019283] [ENSMUST00000049908] [ENSMUST00000209285] [ENSMUST00000210005] [ENSMUST00000210369] [ENSMUST00000210580] [ENSMUST00000211117] [ENSMUST00000211197] [ENSMUST00000211608]

AlphaFold

Q3U4B1

Predicted Effect

probably benign
Transcript: ENSMUST00000019283

SMART Domains

Protein: ENSMUSP00000019283
Gene: ENSMUSG00000019139

Domain	Start	End	E-Value	Type
low complexity region	44	54	N/A	INTRINSIC
Pfam:NAD_binding_5	59	491	4.4e-141	PFAM
Pfam:Inos-1-P_synth	307	420	6.3e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049908
AA Change: I136T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059039
Gene: ENSMUSG00000070003
AA Change: I136T

Domain	Start	End	E-Value	Type
LisH	16	48	2.18e-3	SMART
Pfam:SSDP	81	123	6.7e-15	PFAM
Pfam:SSDP	121	338	1.3e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000209285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209430

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209751

Predicted Effect

probably benign
Transcript: ENSMUST00000210005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210006

Predicted Effect

probably benign
Transcript: ENSMUST00000210369
AA Change: I35T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000210580
AA Change: I154T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211134

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210382

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210699

Predicted Effect

probably benign
Transcript: ENSMUST00000211117

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211488

Predicted Effect

probably benign
Transcript: ENSMUST00000211197

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211153

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210878

Predicted Effect

probably benign
Transcript: ENSMUST00000211501

Predicted Effect

probably benign
Transcript: ENSMUST00000211608

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211773

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	T	8: 25,453,026 (GRCm39)	N760K	probably benign	Het
Ahcyl	T	A	16: 45,974,955 (GRCm39)	T141S	probably benign	Het
Akr1b10	A	G	6: 34,369,920 (GRCm39)	T216A	possibly damaging	Het
Arsj	A	G	3: 126,232,993 (GRCm39)	R580G	probably benign	Het
C9	A	T	15: 6,474,918 (GRCm39)	I26F	probably damaging	Het
Cacna2d1	A	G	5: 16,533,041 (GRCm39)	E578G	probably damaging	Het
Clca4b	C	T	3: 144,622,536 (GRCm39)	V510I	probably benign	Het
Dab2	C	T	15: 6,464,895 (GRCm39)	T561I	possibly damaging	Het
Golga5	A	T	12: 102,450,752 (GRCm39)	E12D	possibly damaging	Het
Hsd17b12	A	T	2: 93,874,280 (GRCm39)	F208I	probably damaging	Het
Inf2	A	G	12: 112,579,008 (GRCm39)		probably benign	Het
Kcnh3	T	A	15: 99,127,337 (GRCm39)	W378R	probably damaging	Het
Klhdc8b	G	C	9: 108,326,422 (GRCm39)	R158G	possibly damaging	Het
Klhl41	G	A	2: 69,500,554 (GRCm39)	R5Q	probably benign	Het
Lcn3	T	C	2: 25,656,421 (GRCm39)		probably null	Het
Mppe1	A	G	18: 67,370,419 (GRCm39)		probably null	Het
Muc20	G	A	16: 32,614,300 (GRCm39)	A359V	probably damaging	Het
Myh14	T	C	7: 44,263,105 (GRCm39)	D1765G	probably damaging	Het
Or10j2	T	C	1: 173,098,372 (GRCm39)	M210T	probably benign	Het
Or4c10b	C	T	2: 89,711,235 (GRCm39)	Q22*	probably null	Het
Or5p58	A	G	7: 107,693,985 (GRCm39)	M264T	probably benign	Het
Pbrm1	T	A	14: 30,757,916 (GRCm39)	L182Q	probably damaging	Het
Pde8a	A	G	7: 80,967,095 (GRCm39)	N412S	probably benign	Het
Phyh	A	G	2: 4,940,912 (GRCm39)	T271A	probably damaging	Het
Pkhd1l1	T	C	15: 44,352,942 (GRCm39)	S258P	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pyroxd1	A	G	6: 142,291,463 (GRCm39)	E2G	probably benign	Het
Ralgapa1	G	T	12: 55,723,550 (GRCm39)	Q2115K	probably benign	Het
Rufy3	A	G	5: 88,732,129 (GRCm39)	E44G	possibly damaging	Het
Slit2	A	T	5: 48,395,721 (GRCm39)	N712I	probably damaging	Het
Sptbn1	A	G	11: 30,095,985 (GRCm39)	M303T	possibly damaging	Het
Syne2	A	G	12: 75,977,778 (GRCm39)	K1409E	probably benign	Het
Tfap2b	T	C	1: 19,304,449 (GRCm39)	Y420H	probably damaging	Het
Tlr5	A	G	1: 182,803,261 (GRCm39)		probably null	Het
Tmprss15	C	T	16: 78,821,637 (GRCm39)		probably null	Het
Tns1	A	T	1: 73,959,722 (GRCm39)	I418N	probably damaging	Het
Txlna	A	T	4: 129,522,984 (GRCm39)	V452D	probably benign	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Zfp563	A	T	17: 33,323,659 (GRCm39)	S85C	possibly damaging	Het
Zfp764l1	A	T	7: 126,991,504 (GRCm39)	I161N	possibly damaging	Het

Other mutations in Ssbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1771:Ssbp4	UTSW	8	71,051,502 (GRCm39)	critical splice donor site	probably null
R4065:Ssbp4	UTSW	8	71,052,210 (GRCm39)	missense	possibly damaging	0.93
R6982:Ssbp4	UTSW	8	71,060,815 (GRCm39)	missense	possibly damaging	0.66
R7407:Ssbp4	UTSW	8	71,051,672 (GRCm39)	missense	probably damaging	1.00
R7409:Ssbp4	UTSW	8	71,050,617 (GRCm39)	missense	unknown
R8077:Ssbp4	UTSW	8	71,051,647 (GRCm39)	missense	probably damaging	1.00
R8279:Ssbp4	UTSW	8	71,054,955 (GRCm39)	missense	probably damaging	1.00
R8360:Ssbp4	UTSW	8	71,052,039 (GRCm39)	missense	probably benign	0.03
R8976:Ssbp4	UTSW	8	71,052,336 (GRCm39)	critical splice donor site	probably null
R9213:Ssbp4	UTSW	8	71,052,395 (GRCm39)	missense	probably benign	0.01
Z1088:Ssbp4	UTSW	8	71,052,485 (GRCm39)	intron	probably benign
Z1176:Ssbp4	UTSW	8	71,052,485 (GRCm39)	intron	probably benign
Z1177:Ssbp4	UTSW	8	71,052,485 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GGGTTAGTCAGAAAACCCAGGTGTG -3'
(R):5'- ACAAGATGTGTAGCCCCAGTGGTG -3'

Sequencing Primer
(F):5'- AAACCCAGGTGTGGCCTTTC -3'
(R):5'- ACCTCACAGCCAGGTAGTG -3'

Posted On

2013-06-11