Mutagenetix > Incidental Mutation

Incidental Mutation 'R4074:Srp72'

316451

Institutional Source

Beutler Lab

Gene Symbol

Srp72

Ensembl Gene

ENSMUSG00000036323

Gene Name

signal recognition particle 72

Synonyms

72kDa, 5730576P14Rik

MMRRC Submission

040855-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R4074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76974683-76999937 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76998251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 633 (T633K)

Ref Sequence

ENSEMBL: ENSMUSP00000098648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101087] [ENSMUST00000120550]

AlphaFold

F8VQC1

Predicted Effect

probably benign
Transcript: ENSMUST00000101087
AA Change: T633K

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000098648
Gene: ENSMUSG00000036323
AA Change: T633K

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:TPR_9	19	70	2.7e-2	PFAM
Pfam:SRP_TPR_like	30	157	5.5e-25	PFAM
Pfam:TPR_8	176	208	2.3e-3	PFAM
Pfam:TPR_1	226	259	2.4e-4	PFAM
Pfam:TPR_2	226	259	4.9e-5	PFAM
Pfam:TPR_8	226	259	1.1e-2	PFAM
Pfam:TPR_9	412	490	1.3e-3	PFAM
Pfam:SRP72	531	588	6.2e-26	PFAM
low complexity region	630	639	N/A	INTRINSIC
low complexity region	647	668	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120550
AA Change: T572K

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113312
Gene: ENSMUSG00000036323
AA Change: T572K

Domain	Start	End	E-Value	Type
low complexity region	3	11	N/A	INTRINSIC
Pfam:TPR_9	19	72	2.5e-2	PFAM
Blast:TPR	109	142	2e-11	BLAST
Blast:TPR	176	209	5e-10	BLAST
Pfam:TPR_6	280	310	2.5e-3	PFAM
Pfam:TPR_9	351	429	1.4e-3	PFAM
Pfam:SRP72	465	527	5.8e-24	PFAM
low complexity region	569	578	N/A	INTRINSIC
low complexity region	586	607	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125732

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141873

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144741

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146167

Meta Mutation Damage Score

0.1820

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

95% (63/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	T	C	2: 19,480,590	E422G	probably damaging	Het
5830473C10Rik	T	A	5: 90,592,868		probably null	Het
8430408G22Rik	A	G	6: 116,652,068	N124S	possibly damaging	Het
Ace3	A	G	11: 105,997,214	Y287C	probably damaging	Het
Arfgap3	C	T	15: 83,303,129	A510T	probably damaging	Het
Atg12	A	G	18: 46,737,424	F92L	probably benign	Het
Axl	A	G	7: 25,763,911		probably benign	Het
Chgb	C	A	2: 132,793,927	D596E	possibly damaging	Het
Cmtr2	T	A	8: 110,221,217	F53Y	possibly damaging	Het
Cnot10	A	G	9: 114,622,947	F254L	possibly damaging	Het
Crb2	G	T	2: 37,786,843	C251F	probably damaging	Het
Crybg3	A	T	16: 59,555,757		probably benign	Het
Cytl1	A	G	5: 37,735,596	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,656,218		probably benign	Het
Dnah11	A	G	12: 118,045,678	M2083T	probably benign	Het
Dst	A	G	1: 34,192,269	E2656G	probably benign	Het
Dst	T	C	1: 34,228,461	F4995L	probably damaging	Het
Egf	C	T	3: 129,735,969	R264Q	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962	I201T	possibly damaging	Het
Ero1l	A	T	14: 45,292,436		probably null	Het
Etl4	T	C	2: 20,809,219		probably benign	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,794,127	D289G	probably damaging	Het
Gm16427	A	T	5: 93,485,198	M50K	probably damaging	Het
Gm5134	T	A	10: 76,008,531	W574R	probably damaging	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Gm5414	T	C	15: 101,625,553	N332D	probably benign	Het
Gnb3	T	A	6: 124,836,979	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,817,401		noncoding transcript	Het
Ighv1-4	A	G	12: 114,487,527	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,725,521	Y74*	probably null	Het
Il17f	G	A	1: 20,777,763		probably benign	Het
Itpr2	C	T	6: 146,373,244		probably null	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,914,890	F85Y	probably benign	Het
Lrig3	C	T	10: 126,013,408	T999I	probably benign	Het
Myh7b	T	C	2: 155,618,758	I277T	probably damaging	Het
Myo3b	T	C	2: 70,289,464	F984S	probably damaging	Het
Naip5	G	A	13: 100,246,064	R46W	probably damaging	Het
Nup205	T	A	6: 35,192,040		probably null	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Pde11a	C	T	2: 76,337,898	R237H	probably damaging	Het
Pdk4	T	C	6: 5,491,865	N69S	probably benign	Het
Pot1a	T	C	6: 25,752,357		probably null	Het
Psg23	A	T	7: 18,607,118	S404T	possibly damaging	Het
Rev1	T	G	1: 38,054,238	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,963,110	Q1045P	probably benign	Het
Scg2	A	C	1: 79,436,857	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,154,287	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,268,224	I57K	possibly damaging	Het
Swt1	A	G	1: 151,394,769	V565A	probably benign	Het
Tesk1	A	G	4: 43,443,606	I58V	possibly damaging	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,671,871	N396S	probably benign	Het
Tuba8	T	A	6: 121,222,797	S147T	probably damaging	Het
Usp8	A	G	2: 126,752,370	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,156,700	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,787,415	H417L	possibly damaging	Het
Zfp608	A	T	18: 54,898,108	V920E	probably damaging	Het
Zmym2	T	C	14: 56,903,004	L100P	probably damaging	Het

Other mutations in Srp72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Srp72	APN	5	76984176	missense	probably damaging	1.00
IGL00915:Srp72	APN	5	76978613	nonsense	probably null
IGL02731:Srp72	APN	5	76994215	missense	probably damaging	0.98
PIT4468001:Srp72	UTSW	5	76994206	missense	probably benign
R0009:Srp72	UTSW	5	76987885	missense	probably damaging	0.98
R0318:Srp72	UTSW	5	76984200	missense	probably benign	0.27
R1645:Srp72	UTSW	5	76998278	missense	probably benign	0.05
R1678:Srp72	UTSW	5	76980307	missense	probably damaging	1.00
R1682:Srp72	UTSW	5	76987870	missense	possibly damaging	0.95
R2037:Srp72	UTSW	5	76976491	missense	probably damaging	1.00
R2364:Srp72	UTSW	5	76984362	missense	probably benign	0.00
R2876:Srp72	UTSW	5	76995920	splice site	probably benign
R4072:Srp72	UTSW	5	76998251	missense	probably benign	0.24
R4073:Srp72	UTSW	5	76998251	missense	probably benign	0.24
R4638:Srp72	UTSW	5	76990295	missense	probably benign	0.00
R4803:Srp72	UTSW	5	76984384	missense	probably damaging	0.97
R4864:Srp72	UTSW	5	76984162	missense	probably benign	0.35
R5188:Srp72	UTSW	5	76974751	missense	possibly damaging	0.54
R5217:Srp72	UTSW	5	76980528	missense	probably damaging	1.00
R5459:Srp72	UTSW	5	76984338	missense	probably benign	0.16
R5616:Srp72	UTSW	5	76987934	missense	probably damaging	1.00
R6460:Srp72	UTSW	5	76987991	missense	probably damaging	1.00
R6595:Srp72	UTSW	5	76984200	missense	probably benign	0.27
R6959:Srp72	UTSW	5	76994223	missense	possibly damaging	0.91
R6986:Srp72	UTSW	5	76994876	missense	probably benign	0.16
R7674:Srp72	UTSW	5	76974826	missense	probably damaging	0.98
R8729:Srp72	UTSW	5	76994158	missense	probably benign	0.11
R9402:Srp72	UTSW	5	76976482	nonsense	probably null
R9533:Srp72	UTSW	5	76980427	missense	probably benign	0.00
Z1177:Srp72	UTSW	5	76998353	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACACGTGGGAAATTATTAGGTATGG -3'
(R):5'- ATCATTTCAGGACTATGGGGATGG -3'

Sequencing Primer
(F):5'- TGGAAAGTTAAATCCACGCACATACG -3'
(R):5'- AGGAGGGAGCTCTGTGC -3'

Posted On

2015-05-15