Mutagenetix > Incidental Mutation

Incidental Mutation 'R2291:Ssrp1'

244324

Institutional Source

Beutler Lab

Gene Symbol

Ssrp1

Ensembl Gene

ENSMUSG00000027067

Gene Name

structure specific recognition protein 1

Synonyms

Hmgox, Hmgi-rs3, Hmg1-rs1, T160

MMRRC Submission

040290-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84867578-84877453 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 84872660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077798] [ENSMUST00000111613] [ENSMUST00000130729] [ENSMUST00000168266]

AlphaFold

Q08943

Predicted Effect

probably null
Transcript: ENSMUST00000077798

SMART Domains

Protein: ENSMUSP00000076971
Gene: ENSMUSG00000027067

Domain	Start	End	E-Value	Type
Pfam:SSrecog	74	285	1.7e-105	PFAM
Rtt106	338	428	4.76e-41	SMART
low complexity region	469	481	N/A	INTRINSIC
low complexity region	486	514	N/A	INTRINSIC
low complexity region	521	542	N/A	INTRINSIC
HMG	546	616	1.9e-27	SMART
low complexity region	621	691	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111613

SMART Domains

Protein: ENSMUSP00000107240
Gene: ENSMUSG00000027071

Domain	Start	End	E-Value	Type
Pfam:P2X_receptor	8	372	4.7e-162	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127069

Predicted Effect

probably null
Transcript: ENSMUST00000130729

SMART Domains

Protein: ENSMUSP00000121639
Gene: ENSMUSG00000027067

Domain	Start	End	E-Value	Type
Pfam:SSrecog	74	285	5.7e-106	PFAM
Rtt106	338	428	4.76e-41	SMART
low complexity region	469	481	N/A	INTRINSIC
low complexity region	486	514	N/A	INTRINSIC
low complexity region	521	542	N/A	INTRINSIC
HMG	546	616	1.9e-27	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142359

Predicted Effect

probably null
Transcript: ENSMUST00000168266

SMART Domains

Protein: ENSMUSP00000127058
Gene: ENSMUSG00000027067

Domain	Start	End	E-Value	Type
Pfam:SSrecog	75	284	8.8e-91	PFAM
Rtt106	338	428	4.76e-41	SMART
low complexity region	469	481	N/A	INTRINSIC
low complexity region	486	514	N/A	INTRINSIC
low complexity region	521	542	N/A	INTRINSIC
HMG	546	616	1.9e-27	SMART
low complexity region	621	691	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146530

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this gene has been described, but its full-length nature is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Disruption of this gene is lethal resulting in death at some point between implantation and E5.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,207,450 (GRCm39)	I247N	probably damaging	Het
Afdn	A	G	17: 14,109,153 (GRCm39)	K1559E	probably damaging	Het
Ankhd1	C	T	18: 36,777,386 (GRCm39)	T1523I	probably benign	Het
Apc	T	A	18: 34,445,544 (GRCm39)	N795K	probably benign	Het
Arhgap26	G	T	18: 39,490,751 (GRCm39)		probably benign	Het
Atm	C	T	9: 53,402,209 (GRCm39)		probably null	Het
Atp1a4	T	C	1: 172,072,473 (GRCm39)	N394D	probably damaging	Het
Brinp3	T	A	1: 146,776,812 (GRCm39)	S420T	possibly damaging	Het
Cacna1d	G	T	14: 29,764,299 (GRCm39)	R2078S	probably damaging	Het
Cacna1e	T	C	1: 154,279,429 (GRCm39)	D1720G	probably damaging	Het
Camk2a	T	A	18: 61,097,031 (GRCm39)	V38E	probably damaging	Het
Camk4	G	A	18: 33,240,996 (GRCm39)		probably null	Het
Ccr7	G	A	11: 99,036,161 (GRCm39)	R254C	probably damaging	Het
Celf5	C	T	10: 81,302,881 (GRCm39)	G267D	probably damaging	Het
Cfap65	G	A	1: 74,965,634 (GRCm39)	P459S	probably damaging	Het
Chd1l	T	C	3: 97,498,599 (GRCm39)	K267E	probably damaging	Het
Chl1	T	A	6: 103,692,354 (GRCm39)	Y331N	probably damaging	Het
Cltc	G	A	11: 86,624,448 (GRCm39)	T158I	probably benign	Het
Col16a1	T	A	4: 129,960,833 (GRCm39)	D430E	unknown	Het
Cspg4	T	C	9: 56,800,027 (GRCm39)	V1597A	probably damaging	Het
Cstf2t	T	A	19: 31,062,264 (GRCm39)	L600H	probably benign	Het
Cyp27b1	T	C	10: 126,884,163 (GRCm39)	V5A	possibly damaging	Het
Depdc5	C	A	5: 33,136,746 (GRCm39)	Q1339K	probably damaging	Het
Diaph3	G	T	14: 87,203,882 (GRCm39)	P592Q	probably damaging	Het
Dync2i1	A	T	12: 116,193,191 (GRCm39)		probably null	Het
Epha8	T	C	4: 136,660,658 (GRCm39)	M687V	probably damaging	Het
Fhod1	T	A	8: 106,063,596 (GRCm39)		probably benign	Het
Gls2	C	A	10: 128,043,479 (GRCm39)	S73*	probably null	Het
Gm3604	T	A	13: 62,519,657 (GRCm39)	M33L	probably damaging	Het
Gpr39	A	G	1: 125,605,278 (GRCm39)	T69A	probably benign	Het
Hal	T	C	10: 93,339,398 (GRCm39)	F496L	probably damaging	Het
Hipk1	T	C	3: 103,668,926 (GRCm39)	E490G	probably damaging	Het
Ints7	T	G	1: 191,338,315 (GRCm39)		probably null	Het
Itpr3	A	G	17: 27,332,553 (GRCm39)	E1799G	possibly damaging	Het
Kif11	T	A	19: 37,395,451 (GRCm39)	M570K	probably benign	Het
Kif18b	G	T	11: 102,799,096 (GRCm39)	Q702K	probably damaging	Het
Kif19a	A	G	11: 114,681,019 (GRCm39)	T247A	probably damaging	Het
Lama3	A	G	18: 12,658,136 (GRCm39)	E360G	probably damaging	Het
Loxl3	G	T	6: 83,014,469 (GRCm39)	A126S	probably benign	Het
Mc5r	C	T	18: 68,472,435 (GRCm39)	R265W	probably damaging	Het
Mpl	A	G	4: 118,306,197 (GRCm39)	V340A	probably benign	Het
Mrpl13	G	T	15: 55,411,615 (GRCm39)	H56Q	probably damaging	Het
Msr1	T	C	8: 40,077,263 (GRCm39)	T116A	probably benign	Het
N4bp3	T	C	11: 51,536,930 (GRCm39)	K48E	probably damaging	Het
Naaladl1	A	G	19: 6,156,225 (GRCm39)	T104A	probably benign	Het
Neu1	C	T	17: 35,151,742 (GRCm39)	R179W	probably damaging	Het
Or10d5	T	C	9: 39,861,630 (GRCm39)	T146A	probably benign	Het
Or8k21	A	T	2: 86,145,524 (GRCm39)	Y35*	probably null	Het
Osbp	G	T	19: 11,951,198 (GRCm39)	E248*	probably null	Het
Otx1	T	A	11: 21,946,634 (GRCm39)		probably benign	Het
Parp4	A	T	14: 56,851,274 (GRCm39)	Q759L	probably damaging	Het
Pax6	A	C	2: 105,516,228 (GRCm39)	S169R	probably benign	Het
Pigg	T	G	5: 108,480,783 (GRCm39)	I389M	probably damaging	Het
Pla2g4a	C	A	1: 149,776,940 (GRCm39)	V59F	probably damaging	Het
Plcb4	A	T	2: 135,781,903 (GRCm39)	Q241H	probably benign	Het
Plpp6	A	G	19: 28,941,720 (GRCm39)	D107G	probably damaging	Het
Ppp6r2	T	A	15: 89,159,690 (GRCm39)	L459Q	probably damaging	Het
Prss55	A	T	14: 64,313,171 (GRCm39)	W238R	probably damaging	Het
Rgl1	C	T	1: 152,412,032 (GRCm39)	E446K	probably damaging	Het
Ric3	C	T	7: 108,638,090 (GRCm39)	G221D	probably damaging	Het
Rnf167	T	C	11: 70,540,129 (GRCm39)	F83S	probably damaging	Het
Ryr1	C	T	7: 28,798,202 (GRCm39)	V947M	probably damaging	Het
Scn1a	A	G	2: 66,119,312 (GRCm39)	L1397P	probably benign	Het
Sh3bp1	T	A	15: 78,802,519 (GRCm39)	V251E	possibly damaging	Het
Slc25a10	A	T	11: 120,387,900 (GRCm39)	I198L	probably benign	Het
Smoc2	A	T	17: 14,589,233 (GRCm39)	N234I	possibly damaging	Het
Spdl1	T	A	11: 34,710,136 (GRCm39)	K382*	probably null	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Triqk	T	A	4: 12,974,817 (GRCm39)		probably null	Het
Ttc19	T	C	11: 62,174,519 (GRCm39)	Y128H	probably damaging	Het
Vmn1r15	T	C	6: 57,235,677 (GRCm39)	S182P	possibly damaging	Het
Vmn1r226	A	G	17: 20,908,475 (GRCm39)	I236V	probably damaging	Het
Vmn2r120	A	C	17: 57,816,479 (GRCm39)	N625K	probably damaging	Het
Vmn2r78	T	C	7: 86,569,362 (GRCm39)	I85T	probably damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Wnt7a	C	T	6: 91,371,468 (GRCm39)	V165I	probably benign	Het
Zbtb40	A	T	4: 136,712,328 (GRCm39)	Y1127N	possibly damaging	Het
Zfyve1	A	T	12: 83,594,705 (GRCm39)	H762Q	probably damaging	Het

Other mutations in Ssrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Ssrp1	APN	2	84,871,443 (GRCm39)	splice site	probably benign
IGL01935:Ssrp1	APN	2	84,877,056 (GRCm39)	makesense	probably null
IGL02226:Ssrp1	APN	2	84,870,705 (GRCm39)	missense	probably damaging	1.00
IGL02793:Ssrp1	APN	2	84,871,264 (GRCm39)	missense	probably damaging	1.00
IGL02875:Ssrp1	APN	2	84,871,264 (GRCm39)	missense	probably damaging	1.00
Dickcissel	UTSW	2	84,871,978 (GRCm39)	missense	probably damaging	0.96
Meadowlark	UTSW	2	84,871,450 (GRCm39)	critical splice acceptor site	probably null
PIT4131001:Ssrp1	UTSW	2	84,868,760 (GRCm39)	missense	probably damaging	1.00
R0313:Ssrp1	UTSW	2	84,871,898 (GRCm39)	missense	probably damaging	1.00
R0363:Ssrp1	UTSW	2	84,871,018 (GRCm39)	missense	probably damaging	0.99
R1234:Ssrp1	UTSW	2	84,872,607 (GRCm39)	missense	probably damaging	1.00
R1643:Ssrp1	UTSW	2	84,871,529 (GRCm39)	missense	possibly damaging	0.89
R1713:Ssrp1	UTSW	2	84,871,104 (GRCm39)	missense	probably damaging	0.99
R2049:Ssrp1	UTSW	2	84,871,771 (GRCm39)	splice site	probably benign
R2113:Ssrp1	UTSW	2	84,873,350 (GRCm39)	splice site	probably null
R2471:Ssrp1	UTSW	2	84,872,642 (GRCm39)	missense	possibly damaging	0.95
R2965:Ssrp1	UTSW	2	84,871,930 (GRCm39)	missense	possibly damaging	0.46
R3552:Ssrp1	UTSW	2	84,874,736 (GRCm39)	missense	probably benign
R4060:Ssrp1	UTSW	2	84,871,978 (GRCm39)	missense	probably damaging	0.96
R4075:Ssrp1	UTSW	2	84,875,912 (GRCm39)	missense	possibly damaging	0.68
R4131:Ssrp1	UTSW	2	84,874,791 (GRCm39)	missense	probably null	0.28
R4326:Ssrp1	UTSW	2	84,870,561 (GRCm39)	intron	probably benign
R4357:Ssrp1	UTSW	2	84,871,495 (GRCm39)	missense	probably benign	0.22
R4400:Ssrp1	UTSW	2	84,868,285 (GRCm39)	missense	probably damaging	0.97
R4797:Ssrp1	UTSW	2	84,876,066 (GRCm39)	nonsense	probably null
R5293:Ssrp1	UTSW	2	84,872,596 (GRCm39)	nonsense	probably null
R5571:Ssrp1	UTSW	2	84,874,669 (GRCm39)	missense	probably damaging	0.99
R5592:Ssrp1	UTSW	2	84,875,863 (GRCm39)	missense	probably benign	0.00
R5743:Ssrp1	UTSW	2	84,871,512 (GRCm39)	nonsense	probably null
R5991:Ssrp1	UTSW	2	84,872,640 (GRCm39)	missense	possibly damaging	0.94
R6019:Ssrp1	UTSW	2	84,875,796 (GRCm39)	missense	probably damaging	1.00
R6133:Ssrp1	UTSW	2	84,875,683 (GRCm39)	intron	probably benign
R6157:Ssrp1	UTSW	2	84,871,072 (GRCm39)	missense	probably damaging	0.99
R6225:Ssrp1	UTSW	2	84,873,158 (GRCm39)	missense	probably benign	0.02
R6551:Ssrp1	UTSW	2	84,871,450 (GRCm39)	critical splice acceptor site	probably null
R6886:Ssrp1	UTSW	2	84,870,280 (GRCm39)	missense	probably benign	0.04
R7189:Ssrp1	UTSW	2	84,875,906 (GRCm39)	missense	probably benign	0.00
R7681:Ssrp1	UTSW	2	84,876,092 (GRCm39)	missense	probably benign
R7789:Ssrp1	UTSW	2	84,871,525 (GRCm39)	missense	probably damaging	1.00
R9074:Ssrp1	UTSW	2	84,875,811 (GRCm39)	missense	probably damaging	1.00
R9268:Ssrp1	UTSW	2	84,870,606 (GRCm39)	splice site	probably benign
R9467:Ssrp1	UTSW	2	84,872,610 (GRCm39)	missense	probably damaging	1.00
X0023:Ssrp1	UTSW	2	84,875,819 (GRCm39)	missense	probably benign	0.06
Z1088:Ssrp1	UTSW	2	84,870,997 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTACTGATGTCCTGCGTAG -3'
(R):5'- AGACTGATCTAAGGCCATGC -3'

Sequencing Primer
(F):5'- AGTATAGTCATGAGTTCTAGCCCCAC -3'
(R):5'- CATGCAGAGAGAACCTGCTCAG -3'

Posted On

2014-10-30