Mutagenetix > Incidental Mutations

Incidental Mutation 'R3552:Ssrp1'

268970

Institutional Source

Beutler Lab

Gene Symbol

Ssrp1

Ensembl Gene

ENSMUSG00000027067

Gene Name

structure specific recognition protein 1

Synonyms

Hmgi-rs3, T160, Hmgox, Hmg1-rs1

MMRRC Submission

040669-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85037234-85047109 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 85044392 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 519 (Q519K)

Ref Sequence

ENSEMBL: ENSMUSP00000127058 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000077798
AA Change: Q519K

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

SMART Domains

Protein: ENSMUSP00000076971
Gene: ENSMUSG00000027067
AA Change: Q519K

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

noncoding transcript
Transcript: ENSMUST00000127069

Predicted Effect

probably benign
Transcript: ENSMUST00000130729
AA Change: Q519K

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

SMART Domains

Protein: ENSMUSP00000121639
Gene: ENSMUSG00000027067
AA Change: Q519K

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: ENSMUST00000139915

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142359

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151092

Predicted Effect

probably benign
Transcript: ENSMUST00000168266
AA Change: Q519K

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

SMART Domains

Protein: ENSMUSP00000127058
Gene: ENSMUSG00000027067
AA Change: Q519K

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

Meta Mutation Damage Score

0.0581

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Akna	T	C	4: 63,398,124	M1V	probably null	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,310,766	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,720,791	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Megf11	A	G	9: 64,695,463	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,893,878	K1140M	probably damaging	Het
Oc90	T	C	15: 65,878,801	Q365R	possibly damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Oplah	C	T	15: 76,302,094	D734N	possibly damaging	Het
Pbx1	G	A	1: 168,158,793	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,975,038	Y615C	probably benign	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slc5a4b	A	G	10: 76,081,524	V226A	probably damaging	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Smyd5	G	A	6: 85,442,211	E292K	probably damaging	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc2	A	G	6: 116,220,568	D168G	probably damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,711,241	S337*	probably null	Het

Other mutations in Ssrp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01636:Ssrp1	APN	2	85041099	splice site	probably benign
IGL01935:Ssrp1	APN	2	85046712	makesense	probably null
IGL02226:Ssrp1	APN	2	85040361	missense	probably damaging	1.00
IGL02793:Ssrp1	APN	2	85040920	missense	probably damaging	1.00
IGL02875:Ssrp1	APN	2	85040920	missense	probably damaging	1.00
Dickcissel	UTSW	2	85041634	missense	probably damaging	0.96
Meadowlark	UTSW	2	85041106	critical splice acceptor site	probably null
PIT4131001:Ssrp1	UTSW	2	85038416	missense	probably damaging	1.00
R0313:Ssrp1	UTSW	2	85041554	missense	probably damaging	1.00
R0363:Ssrp1	UTSW	2	85040674	missense	probably damaging	0.99
R1234:Ssrp1	UTSW	2	85042263	missense	probably damaging	1.00
R1643:Ssrp1	UTSW	2	85041185	missense	possibly damaging	0.89
R1713:Ssrp1	UTSW	2	85040760	missense	probably damaging	0.99
R2049:Ssrp1	UTSW	2	85041427	splice site	probably benign
R2113:Ssrp1	UTSW	2	85043006	splice site	probably null
R2291:Ssrp1	UTSW	2	85042316	critical splice donor site	probably null
R2471:Ssrp1	UTSW	2	85042298	missense	possibly damaging	0.95
R2965:Ssrp1	UTSW	2	85041586	missense	possibly damaging	0.46
R4060:Ssrp1	UTSW	2	85041634	missense	probably damaging	0.96
R4075:Ssrp1	UTSW	2	85045568	missense	possibly damaging	0.68
R4131:Ssrp1	UTSW	2	85044447	missense	probably null	0.28
R4326:Ssrp1	UTSW	2	85040217	intron	probably benign
R4357:Ssrp1	UTSW	2	85041151	missense	probably benign	0.22
R4400:Ssrp1	UTSW	2	85037941	missense	probably damaging	0.97
R4797:Ssrp1	UTSW	2	85045722	nonsense	probably null
R5293:Ssrp1	UTSW	2	85042252	nonsense	probably null
R5571:Ssrp1	UTSW	2	85044325	missense	probably damaging	0.99
R5592:Ssrp1	UTSW	2	85045519	missense	probably benign	0.00
R5743:Ssrp1	UTSW	2	85041168	nonsense	probably null
R5991:Ssrp1	UTSW	2	85042296	missense	possibly damaging	0.94
R6019:Ssrp1	UTSW	2	85045452	missense	probably damaging	1.00
R6133:Ssrp1	UTSW	2	85045339	intron	probably benign
R6157:Ssrp1	UTSW	2	85040728	missense	probably damaging	0.99
R6225:Ssrp1	UTSW	2	85042814	missense	probably benign	0.02
R6551:Ssrp1	UTSW	2	85041106	critical splice acceptor site	probably null
R6886:Ssrp1	UTSW	2	85039936	missense	probably benign	0.04
R7189:Ssrp1	UTSW	2	85045562	missense	probably benign	0.00
R7681:Ssrp1	UTSW	2	85045748	missense	probably benign
R7789:Ssrp1	UTSW	2	85041181	missense	probably damaging	1.00
X0023:Ssrp1	UTSW	2	85045475	missense	probably benign	0.06
Z1088:Ssrp1	UTSW	2	85040653	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATGGTGGTGGAAGCTGTC -3'
(R):5'- TCCTCAAGAAACAAAGTATCCTAGG -3'

Sequencing Primer
(F):5'- CTGAGTCTAAGCCTCGTT -3'
(R):5'- CTTAAGAAAATACCTACTGGGCCGG -3'

Posted On

2015-02-19