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

5730576P14Rik, 72kDa

MMRRC Submission

040855-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R4074 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

77122548-77147782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 77146098 bp (GRCm39)

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: 19,485,401 (GRCm39)	E422G	probably damaging	Het
Ace3	A	G	11: 105,888,040 (GRCm39)	Y287C	probably damaging	Het
Adam34l	A	T	8: 44,079,387 (GRCm39)	F279Y	probably damaging	Het
Albfm1	T	A	5: 90,740,727 (GRCm39)		probably null	Het
Arfgap3	C	T	15: 83,187,330 (GRCm39)	A510T	probably damaging	Het
Atg12	A	G	18: 46,870,491 (GRCm39)	F92L	probably benign	Het
Axl	A	G	7: 25,463,336 (GRCm39)		probably benign	Het
Chgb	C	A	2: 132,635,847 (GRCm39)	D596E	possibly damaging	Het
Cmtr2	T	A	8: 110,947,849 (GRCm39)	F53Y	possibly damaging	Het
Cnot10	A	G	9: 114,452,015 (GRCm39)	F254L	possibly damaging	Het
Crb2	G	T	2: 37,676,855 (GRCm39)	C251F	probably damaging	Het
Crybg3	A	T	16: 59,376,120 (GRCm39)		probably benign	Het
Cytl1	A	G	5: 37,892,940 (GRCm39)	I17V	unknown	Het
D930020B18Rik	A	G	10: 121,492,123 (GRCm39)		probably benign	Het
Depp1	A	G	6: 116,629,029 (GRCm39)	N124S	possibly damaging	Het
Dnah11	A	G	12: 118,009,413 (GRCm39)	M2083T	probably benign	Het
Dst	A	G	1: 34,231,350 (GRCm39)	E2656G	probably benign	Het
Dst	T	C	1: 34,267,542 (GRCm39)	F4995L	probably damaging	Het
Egf	C	T	3: 129,529,618 (GRCm39)	R264Q	probably benign	Het
Eps15l1	A	G	8: 73,134,128 (GRCm39)	I482T	probably damaging	Het
Eqtn	A	G	4: 94,808,199 (GRCm39)	I201T	possibly damaging	Het
Ero1a	A	T	14: 45,529,893 (GRCm39)		probably null	Het
Etl4	T	C	2: 20,814,030 (GRCm39)		probably benign	Het
Fcho1	T	C	8: 72,163,013 (GRCm39)	H672R	probably damaging	Het
Glt6d1	T	C	2: 25,684,139 (GRCm39)	D289G	probably damaging	Het
Gm5134	T	A	10: 75,844,365 (GRCm39)	W574R	probably damaging	Het
Gm5414	T	C	15: 101,533,988 (GRCm39)	N332D	probably benign	Het
Gnb3	T	A	6: 124,813,942 (GRCm39)	E215D	probably benign	Het
Ighv1-30	C	T	12: 114,781,021 (GRCm39)		noncoding transcript	Het
Ighv1-4	A	G	12: 114,451,147 (GRCm39)	S15P	possibly damaging	Het
Igkv1-133	T	G	6: 67,702,505 (GRCm39)	Y74*	probably null	Het
Il17f	G	A	1: 20,847,987 (GRCm39)		probably benign	Het
Itpr2	C	T	6: 146,274,742 (GRCm39)		probably null	Het
Krtap31-1	T	C	11: 99,799,058 (GRCm39)	I87T	possibly damaging	Het
Lilra6	A	T	7: 3,917,889 (GRCm39)	F85Y	probably benign	Het
Lrig3	C	T	10: 125,849,277 (GRCm39)	T999I	probably benign	Het
Myh7b	T	C	2: 155,460,678 (GRCm39)	I277T	probably damaging	Het
Myo3b	T	C	2: 70,119,808 (GRCm39)	F984S	probably damaging	Het
Naip5	G	A	13: 100,382,572 (GRCm39)	R46W	probably damaging	Het
Nup205	T	A	6: 35,168,975 (GRCm39)		probably null	Het
Or52e18	A	T	7: 104,609,923 (GRCm39)	N5K	probably damaging	Het
Pde11a	C	T	2: 76,168,242 (GRCm39)	R237H	probably damaging	Het
Pdk4	T	C	6: 5,491,865 (GRCm39)	N69S	probably benign	Het
Pot1a	T	C	6: 25,752,356 (GRCm39)		probably null	Het
Pramel33	A	T	5: 93,633,057 (GRCm39)	M50K	probably damaging	Het
Psg23	A	T	7: 18,341,043 (GRCm39)	S404T	possibly damaging	Het
Rev1	T	G	1: 38,093,319 (GRCm39)	K1075T	possibly damaging	Het
Rrbp1	T	G	2: 143,805,030 (GRCm39)	Q1045P	probably benign	Het
Scg2	A	C	1: 79,414,574 (GRCm39)	F50V	probably damaging	Het
Sel1l3	A	G	5: 53,311,629 (GRCm39)	Y619H	probably damaging	Het
Slco1a5	A	T	6: 142,213,950 (GRCm39)	I57K	possibly damaging	Het
Swt1	A	G	1: 151,270,520 (GRCm39)	V565A	probably benign	Het
Tesk1	A	G	4: 43,443,606 (GRCm39)	I58V	possibly damaging	Het
Tm2d3	T	A	7: 65,347,498 (GRCm39)	L49*	probably null	Het
Tmprss11e	T	C	5: 86,863,502 (GRCm39)	T188A	possibly damaging	Het
Tnxb	A	G	17: 34,890,845 (GRCm39)	N396S	probably benign	Het
Tuba8	T	A	6: 121,199,756 (GRCm39)	S147T	probably damaging	Het
Usp8	A	G	2: 126,594,290 (GRCm39)	D822G	probably damaging	Het
Vmn2r13	T	A	5: 109,304,566 (GRCm39)	I622F	probably damaging	Het
Vmn2r24	A	T	6: 123,764,374 (GRCm39)	H417L	possibly damaging	Het
Zfp608	A	T	18: 55,031,180 (GRCm39)	V920E	probably damaging	Het
Zmym2	T	C	14: 57,140,461 (GRCm39)	L100P	probably damaging	Het

Other mutations in Srp72

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Srp72	APN	5	77,132,023 (GRCm39)	missense	probably damaging	1.00
IGL00915:Srp72	APN	5	77,126,460 (GRCm39)	nonsense	probably null
IGL02731:Srp72	APN	5	77,142,062 (GRCm39)	missense	probably damaging	0.98
PIT4468001:Srp72	UTSW	5	77,142,053 (GRCm39)	missense	probably benign
R0009:Srp72	UTSW	5	77,135,732 (GRCm39)	missense	probably damaging	0.98
R0318:Srp72	UTSW	5	77,132,047 (GRCm39)	missense	probably benign	0.27
R1645:Srp72	UTSW	5	77,146,125 (GRCm39)	missense	probably benign	0.05
R1678:Srp72	UTSW	5	77,128,154 (GRCm39)	missense	probably damaging	1.00
R1682:Srp72	UTSW	5	77,135,717 (GRCm39)	missense	possibly damaging	0.95
R2037:Srp72	UTSW	5	77,124,338 (GRCm39)	missense	probably damaging	1.00
R2364:Srp72	UTSW	5	77,132,209 (GRCm39)	missense	probably benign	0.00
R2876:Srp72	UTSW	5	77,143,767 (GRCm39)	splice site	probably benign
R4072:Srp72	UTSW	5	77,146,098 (GRCm39)	missense	probably benign	0.24
R4073:Srp72	UTSW	5	77,146,098 (GRCm39)	missense	probably benign	0.24
R4638:Srp72	UTSW	5	77,138,142 (GRCm39)	missense	probably benign	0.00
R4803:Srp72	UTSW	5	77,132,231 (GRCm39)	missense	probably damaging	0.97
R4864:Srp72	UTSW	5	77,132,009 (GRCm39)	missense	probably benign	0.35
R5188:Srp72	UTSW	5	77,122,598 (GRCm39)	missense	possibly damaging	0.54
R5217:Srp72	UTSW	5	77,128,375 (GRCm39)	missense	probably damaging	1.00
R5459:Srp72	UTSW	5	77,132,185 (GRCm39)	missense	probably benign	0.16
R5616:Srp72	UTSW	5	77,135,781 (GRCm39)	missense	probably damaging	1.00
R6460:Srp72	UTSW	5	77,135,838 (GRCm39)	missense	probably damaging	1.00
R6595:Srp72	UTSW	5	77,132,047 (GRCm39)	missense	probably benign	0.27
R6959:Srp72	UTSW	5	77,142,070 (GRCm39)	missense	possibly damaging	0.91
R6986:Srp72	UTSW	5	77,142,723 (GRCm39)	missense	probably benign	0.16
R7674:Srp72	UTSW	5	77,122,673 (GRCm39)	missense	probably damaging	0.98
R8729:Srp72	UTSW	5	77,142,005 (GRCm39)	missense	probably benign	0.11
R9402:Srp72	UTSW	5	77,124,329 (GRCm39)	nonsense	probably null
R9533:Srp72	UTSW	5	77,128,274 (GRCm39)	missense	probably benign	0.00
Z1177:Srp72	UTSW	5	77,146,200 (GRCm39)	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