Mutagenetix > Incidental Mutation

Incidental Mutation 'R7174:Ssbp3'

558476

Institutional Source

Beutler Lab

Gene Symbol

Ssbp3

Ensembl Gene

ENSMUSG00000061887

Gene Name

single-stranded DNA binding protein 3

Synonyms

2610200M23Rik, 2610021L12Rik, 5730488C10Rik

MMRRC Submission

045266-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7174 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106768667-106906891 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106894843 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 254 (N254S)

Ref Sequence

ENSEMBL: ENSMUSP00000030367 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030367] [ENSMUST00000072753] [ENSMUST00000097934] [ENSMUST00000149926]

AlphaFold

Q9D032

Predicted Effect

probably benign
Transcript: ENSMUST00000030367
AA Change: N254S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000030367
Gene: ENSMUSG00000061887
AA Change: N254S

Domain	Start	End	E-Value	Type
LisH	16	48	2.18e-3	SMART
Pfam:SSDP	81	365	8.2e-102	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072753
AA Change: N227S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000072536
Gene: ENSMUSG00000061887
AA Change: N227S

Domain	Start	End	E-Value	Type
LisH	16	48	2.18e-3	SMART
Pfam:SSDP	81	343	6.7e-112	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097934
AA Change: N234S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000095547
Gene: ENSMUSG00000061887
AA Change: N234S

Domain	Start	End	E-Value	Type
LisH	16	48	2.18e-3	SMART
Pfam:SSDP	81	151	6.3e-27	PFAM
Pfam:SSDP	148	350	8.4e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149926
AA Change: N207S

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000116248
Gene: ENSMUSG00000061887
AA Change: N207S

Domain	Start	End	E-Value	Type
LisH	16	48	2.18e-3	SMART
Pfam:SSDP	81	126	1.4e-19	PFAM
Pfam:SSDP	121	226	9.4e-42	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

97% (61/63)

MGI Phenotype

FUNCTION: This gene encodes a member of the Ssdp (sequence-specific single-stranded DNA binding protein) family of proteins. The encoded protein binds specifically to single-stranded pyrimidine-rich DNA elements. The encoded protein has been shown to be important for head development and may play a role in the differentiation of spinal interneurons. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Embryos homozygous for a gene trap mutation that deletes the proline-rich domain show a severe anterior truncation and a lethal headless phenotype (loss of fore- and midbrain). Embryos homozygous for a gene trap mutation which retains most of the proline-rich domain show normal head development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	A	5: 144,981,627 (GRCm39)	A154E	probably benign	Het
Adamts1	C	A	16: 85,596,060 (GRCm39)	A419S	probably benign	Het
Arap2	C	G	5: 62,761,621 (GRCm39)	V1702L	probably benign	Het
Arpc1a	C	T	5: 145,034,087 (GRCm39)	P152S	probably benign	Het
Bbs10	T	A	10: 111,136,628 (GRCm39)	C580*	probably null	Het
Bcam	A	G	7: 19,499,376 (GRCm39)	Y216H	probably damaging	Het
C2cd3	T	C	7: 100,081,405 (GRCm39)	S1016P		Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Ceacam5	T	A	7: 17,491,839 (GRCm39)		probably null	Het
Cfap57	A	G	4: 118,446,264 (GRCm39)	V666A	probably benign	Het
Cntn3	A	G	6: 102,142,305 (GRCm39)	F1021L	probably benign	Het
Cr1l	C	T	1: 194,811,497 (GRCm39)	G119D	probably benign	Het
Fgf10	A	T	13: 118,851,942 (GRCm39)	H8L	probably benign	Het
Fras1	T	A	5: 96,903,436 (GRCm39)		probably null	Het
Frem1	G	T	4: 82,840,493 (GRCm39)	T1811N	probably benign	Het
Fsd1	A	T	17: 56,298,356 (GRCm39)	Q227L	probably benign	Het
Galk2	A	G	2: 125,738,621 (GRCm39)	I138M	probably damaging	Het
Igkv8-30	A	G	6: 70,094,582 (GRCm39)	V7A	possibly damaging	Het
Katnb1	G	A	8: 95,824,069 (GRCm39)	A450T	probably benign	Het
Kif14	A	T	1: 136,448,995 (GRCm39)	E1465V	possibly damaging	Het
Klra3	A	T	6: 130,312,941 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lepr	A	G	4: 101,607,535 (GRCm39)	N251S	probably benign	Het
Lrp2	T	C	2: 69,263,416 (GRCm39)	M4379V	probably benign	Het
Lrriq1	T	C	10: 103,060,826 (GRCm39)	N92S	probably benign	Het
Map3k13	A	G	16: 21,745,006 (GRCm39)	N855S	probably damaging	Het
Marf1	T	A	16: 13,954,817 (GRCm39)	D900V	probably damaging	Het
Nckap5l	A	T	15: 99,321,884 (GRCm39)	M1087K	probably benign	Het
Nlrp9c	T	C	7: 26,084,722 (GRCm39)	N286D	probably benign	Het
Or12j4	T	C	7: 140,047,076 (GRCm39)	*321Q	probably null	Het
Or13c7d	C	T	4: 43,770,691 (GRCm39)	A107T	not run	Het
Or4k2	T	C	14: 50,424,153 (GRCm39)	I175V	probably benign	Het
Or51ah3	A	T	7: 103,210,598 (GRCm39)	R305*	probably null	Het
Or5g9	C	T	2: 85,552,297 (GRCm39)	P183S	possibly damaging	Het
Or5p72	T	A	7: 108,022,367 (GRCm39)	S196R	probably benign	Het
Pcdhga3	A	G	18: 37,808,980 (GRCm39)	T478A	probably benign	Het
Pdgfrb	T	C	18: 61,199,587 (GRCm39)	I385T	probably benign	Het
Poteg	C	T	8: 27,943,305 (GRCm39)	R192W	probably benign	Het
Prmt2	G	T	10: 76,061,173 (GRCm39)	D104E	probably benign	Het
Rgl2	T	C	17: 34,153,964 (GRCm39)	F457L	possibly damaging	Het
Rlbp1	T	C	7: 79,027,090 (GRCm39)	N190S	possibly damaging	Het
Ryr2	T	C	13: 11,816,063 (GRCm39)	D641G	possibly damaging	Het
Sh3gl1	A	T	17: 56,324,846 (GRCm39)	M303K	probably benign	Het
Slc26a5	A	G	5: 22,018,892 (GRCm39)	V649A	probably damaging	Het
Slco4c1	T	C	1: 96,765,323 (GRCm39)	N376D	possibly damaging	Het
Socs3	A	T	11: 117,858,553 (GRCm39)	Y168*	probably null	Het
Spata31d1d	A	T	13: 59,876,394 (GRCm39)	N380K	possibly damaging	Het
Speer1c	T	C	5: 10,295,237 (GRCm39)	K56E	probably damaging	Het
Stard10	C	T	7: 100,995,226 (GRCm39)	S326L	probably damaging	Het
Taf2	T	C	15: 54,912,135 (GRCm39)	D524G	possibly damaging	Het
Taf7	A	T	18: 37,776,053 (GRCm39)	S171R	probably damaging	Het
Tchh	C	T	3: 93,353,478 (GRCm39)	R973C	unknown	Het
Tmem67	T	C	4: 12,077,337 (GRCm39)	R172G	possibly damaging	Het
Top2a	C	A	11: 98,914,922 (GRCm39)		probably benign	Het
Ttc8	T	A	12: 98,940,960 (GRCm39)	N323K	possibly damaging	Het
Txnl1	T	C	18: 63,804,667 (GRCm39)	N276D	probably benign	Het
Usp24	T	G	4: 106,219,878 (GRCm39)		probably null	Het
Vmn1r18	A	C	6: 57,366,609 (GRCm39)		probably null	Het
Vmn2r53	A	T	7: 12,315,628 (GRCm39)	H730Q	probably benign	Het
Wnk1	A	C	6: 119,947,939 (GRCm39)	I500M	probably damaging	Het
Zfp335	A	T	2: 164,744,423 (GRCm39)	Y451N	probably damaging	Het
Zfp683	T	A	4: 133,783,064 (GRCm39)	I176N	probably damaging	Het

Other mutations in Ssbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01470:Ssbp3	APN	4	106,894,855 (GRCm39)	splice site	probably benign
R0179:Ssbp3	UTSW	4	106,903,585 (GRCm39)	missense	probably damaging	1.00
R1751:Ssbp3	UTSW	4	106,904,612 (GRCm39)	missense	probably damaging	1.00
R1767:Ssbp3	UTSW	4	106,904,612 (GRCm39)	missense	probably damaging	1.00
R4110:Ssbp3	UTSW	4	106,904,393 (GRCm39)	intron	probably benign
R5219:Ssbp3	UTSW	4	106,904,655 (GRCm39)	missense	probably damaging	1.00
R5906:Ssbp3	UTSW	4	106,867,018 (GRCm39)	intron	probably benign
R6288:Ssbp3	UTSW	4	106,903,277 (GRCm39)	splice site	probably null
R9630:Ssbp3	UTSW	4	106,895,426 (GRCm39)	missense	probably damaging	1.00
R9781:Ssbp3	UTSW	4	106,905,224 (GRCm39)	missense	probably damaging	1.00
Z1176:Ssbp3	UTSW	4	106,894,828 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTCCGTGGAACTACCCATTGC -3'
(R):5'- AGCTCTTAGCCAGCCGATAG -3'

Sequencing Primer
(F):5'- ATTGCTACCCCAGAGTCAGATGG -3'
(R):5'- ATAGCTCAGGGCAGGACCAC -3'

Posted On

2019-06-26