Mutagenetix > Incidental Mutation

Incidental Mutation 'R4682:Srrm2'

350091

Institutional Source

Beutler Lab

Gene Symbol

Srrm2

Ensembl Gene

ENSMUSG00000039218

Gene Name

serine/arginine repetitive matrix 2

Synonyms

5033413A03Rik, SRm300

MMRRC Submission

041934-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R4682 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24009506-24043715 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24034666 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 533 (S533T)

Ref Sequence

ENSEMBL: ENSMUSP00000139842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088621] [ENSMUST00000190686]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000088621
AA Change: S437T

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218
AA Change: S437T

Domain	Start	End	E-Value	Type
low complexity region	82	157	N/A	INTRINSIC
low complexity region	161	188	N/A	INTRINSIC
low complexity region	223	238	N/A	INTRINSIC
internal_repeat_4	248	305	2.93e-5	PROSPERO
internal_repeat_5	259	388	2.93e-5	PROSPERO
low complexity region	407	423	N/A	INTRINSIC
CTD	464	584	5.25e-14	SMART
low complexity region	652	682	N/A	INTRINSIC
low complexity region	689	721	N/A	INTRINSIC
internal_repeat_6	732	778	4.88e-5	PROSPERO
low complexity region	779	795	N/A	INTRINSIC
low complexity region	802	824	N/A	INTRINSIC
low complexity region	839	853	N/A	INTRINSIC
internal_repeat_2	859	1124	6.34e-6	PROSPERO
internal_repeat_1	1055	1183	3.81e-6	PROSPERO
internal_repeat_4	1113	1166	2.93e-5	PROSPERO
internal_repeat_6	1169	1213	4.88e-5	PROSPERO
low complexity region	1236	1244	N/A	INTRINSIC
low complexity region	1275	1286	N/A	INTRINSIC
low complexity region	1290	1312	N/A	INTRINSIC
internal_repeat_2	1313	1485	6.34e-6	PROSPERO
low complexity region	1493	1525	N/A	INTRINSIC
low complexity region	1545	1555	N/A	INTRINSIC
low complexity region	1559	1720	N/A	INTRINSIC
low complexity region	1734	1919	N/A	INTRINSIC
low complexity region	1926	1951	N/A	INTRINSIC
low complexity region	1966	1980	N/A	INTRINSIC
low complexity region	2079	2105	N/A	INTRINSIC
internal_repeat_3	2107	2118	1.06e-5	PROSPERO
internal_repeat_3	2135	2146	1.06e-5	PROSPERO
low complexity region	2153	2172	N/A	INTRINSIC
internal_repeat_5	2182	2320	2.93e-5	PROSPERO
internal_repeat_1	2224	2368	3.81e-6	PROSPERO
low complexity region	2390	2425	N/A	INTRINSIC
low complexity region	2518	2539	N/A	INTRINSIC
low complexity region	2541	2550	N/A	INTRINSIC
low complexity region	2552	2571	N/A	INTRINSIC
low complexity region	2594	2607	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000186045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189977

Predicted Effect

probably benign
Transcript: ENSMUST00000190686
AA Change: S533T

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: S533T

Domain	Start	End	E-Value	Type
Pfam:cwf21	58	102	1.5e-13	PFAM
low complexity region	178	253	N/A	INTRINSIC
low complexity region	257	284	N/A	INTRINSIC
low complexity region	319	334	N/A	INTRINSIC
internal_repeat_4	344	401	3.07e-5	PROSPERO
internal_repeat_5	355	484	3.07e-5	PROSPERO
low complexity region	503	519	N/A	INTRINSIC
CTD	560	680	5.25e-14	SMART
low complexity region	748	778	N/A	INTRINSIC
low complexity region	785	817	N/A	INTRINSIC
internal_repeat_6	828	874	5.11e-5	PROSPERO
low complexity region	875	891	N/A	INTRINSIC
low complexity region	898	920	N/A	INTRINSIC
low complexity region	935	949	N/A	INTRINSIC
internal_repeat_2	955	1220	6.62e-6	PROSPERO
internal_repeat_1	1151	1279	3.97e-6	PROSPERO
internal_repeat_4	1209	1262	3.07e-5	PROSPERO
internal_repeat_6	1265	1309	5.11e-5	PROSPERO
low complexity region	1332	1340	N/A	INTRINSIC
low complexity region	1371	1382	N/A	INTRINSIC
low complexity region	1386	1408	N/A	INTRINSIC
internal_repeat_2	1409	1581	6.62e-6	PROSPERO
low complexity region	1589	1621	N/A	INTRINSIC
low complexity region	1641	1651	N/A	INTRINSIC
low complexity region	1655	1816	N/A	INTRINSIC
low complexity region	1830	2015	N/A	INTRINSIC
low complexity region	2022	2047	N/A	INTRINSIC
low complexity region	2062	2076	N/A	INTRINSIC
low complexity region	2175	2201	N/A	INTRINSIC
internal_repeat_3	2203	2214	1.1e-5	PROSPERO
internal_repeat_3	2231	2242	1.1e-5	PROSPERO
low complexity region	2249	2268	N/A	INTRINSIC
internal_repeat_5	2278	2416	3.07e-5	PROSPERO
internal_repeat_1	2320	2464	3.97e-6	PROSPERO
low complexity region	2486	2521	N/A	INTRINSIC
low complexity region	2614	2635	N/A	INTRINSIC
low complexity region	2637	2646	N/A	INTRINSIC
low complexity region	2648	2667	N/A	INTRINSIC
low complexity region	2690	2703	N/A	INTRINSIC

Meta Mutation Damage Score

0.0700

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (45/48)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc1	A	G	2: 128,505,925 (GRCm39)	V637A	probably benign	Het
Aurkc	G	A	7: 6,998,538 (GRCm39)	V33M	probably null	Het
Crybg2	CTTCCAGAGCCATGGACCCATCTTTTCCA	CTTCCA	4: 133,800,029 (GRCm39)		probably null	Het
Dapk1	T	A	13: 60,898,961 (GRCm39)	S810R	probably benign	Het
Dpm2	C	T	2: 32,462,290 (GRCm39)		probably benign	Het
Fgb	A	T	3: 82,950,572 (GRCm39)	F394Y	probably benign	Het
Fry	A	G	5: 150,346,219 (GRCm39)	Y1576C	probably damaging	Het
Gabra4	T	C	5: 71,815,152 (GRCm39)	M1V	probably null	Het
Grhl1	T	G	12: 24,658,432 (GRCm39)	V359G	probably benign	Het
Hdac5	T	C	11: 102,097,456 (GRCm39)	S158G	probably null	Het
Hdgfl1	T	C	13: 26,953,230 (GRCm39)	E281G	possibly damaging	Het
Igfn1	T	C	1: 135,926,363 (GRCm39)	E29G	probably benign	Het
Inpp1	T	C	1: 52,833,760 (GRCm39)	N112S	probably benign	Het
Itih1	C	A	14: 30,659,800 (GRCm39)	A279S	probably damaging	Het
Mad1l1	A	T	5: 140,286,007 (GRCm39)	M296K	possibly damaging	Het
Mark4	T	C	7: 19,179,097 (GRCm39)		probably null	Het
Mrpl48	T	A	7: 100,198,576 (GRCm39)	D192V	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Nckap5	A	T	1: 126,030,279 (GRCm39)		probably null	Het
Nlrp4d	T	C	7: 10,108,879 (GRCm39)	T731A	noncoding transcript	Het
Or4d6	T	C	19: 12,086,049 (GRCm39)	Y287C	probably damaging	Het
Pcyt1b	C	A	X: 92,789,970 (GRCm39)	P318H	probably damaging	Het
Plekhm3	T	C	1: 64,977,086 (GRCm39)	D128G	possibly damaging	Het
Ppp1r9a	A	G	6: 4,905,477 (GRCm39)	T11A	possibly damaging	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Rnf138	T	A	18: 21,143,791 (GRCm39)	Y112N	probably damaging	Het
Scn9a	A	T	2: 66,377,362 (GRCm39)	V442E	probably benign	Het
Slc36a4	C	A	9: 15,638,144 (GRCm39)	S190*	probably null	Het
Slc46a1	A	G	11: 78,359,502 (GRCm39)	K378R	possibly damaging	Het
Snai2	T	C	16: 14,526,150 (GRCm39)	V267A	probably benign	Het
St6galnac4	T	A	2: 32,484,111 (GRCm39)	M103K	probably damaging	Het
Tap2	C	A	17: 34,433,006 (GRCm39)	Y429*	probably null	Het
Traf7	T	C	17: 24,732,348 (GRCm39)	K159E	probably damaging	Het
Zfp111	T	G	7: 23,898,563 (GRCm39)	K349N	probably damaging	Het
Zfp462	A	G	4: 55,011,376 (GRCm39)	Y1114C	probably damaging	Het

Other mutations in Srrm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Srrm2	APN	17	24,031,452 (GRCm39)	missense	probably benign	0.23
IGL00484:Srrm2	APN	17	24,037,492 (GRCm39)	missense	probably benign	0.23
IGL01413:Srrm2	APN	17	24,034,999 (GRCm39)	unclassified	probably benign
IGL02272:Srrm2	APN	17	24,034,756 (GRCm39)	unclassified	probably benign
IGL02279:Srrm2	APN	17	24,034,306 (GRCm39)	unclassified	probably benign
IGL02325:Srrm2	APN	17	24,029,453 (GRCm39)	unclassified	probably benign
IGL02947:Srrm2	APN	17	24,029,720 (GRCm39)	missense	probably benign	0.23
IGL03002:Srrm2	APN	17	24,034,708 (GRCm39)	unclassified	probably benign
BB009:Srrm2	UTSW	17	24,037,501 (GRCm39)	missense	probably benign	0.23
BB019:Srrm2	UTSW	17	24,037,501 (GRCm39)	missense	probably benign	0.23
R0173:Srrm2	UTSW	17	24,034,103 (GRCm39)	unclassified	probably benign
R1018:Srrm2	UTSW	17	24,041,514 (GRCm39)	missense	probably damaging	0.98
R1109:Srrm2	UTSW	17	24,038,591 (GRCm39)	unclassified	probably benign
R1199:Srrm2	UTSW	17	24,036,725 (GRCm39)	unclassified	probably benign
R1471:Srrm2	UTSW	17	24,039,770 (GRCm39)	missense	probably damaging	1.00
R1478:Srrm2	UTSW	17	24,034,876 (GRCm39)	missense	probably benign	0.23
R1618:Srrm2	UTSW	17	24,037,906 (GRCm39)	unclassified	probably benign
R1678:Srrm2	UTSW	17	24,037,960 (GRCm39)	missense	probably benign	0.23
R1853:Srrm2	UTSW	17	24,039,499 (GRCm39)	missense	probably damaging	1.00
R1968:Srrm2	UTSW	17	24,040,465 (GRCm39)	missense	probably damaging	1.00
R2094:Srrm2	UTSW	17	24,031,403 (GRCm39)	unclassified	probably benign
R2102:Srrm2	UTSW	17	24,036,722 (GRCm39)	unclassified	probably benign
R2156:Srrm2	UTSW	17	24,037,237 (GRCm39)	missense	probably benign	0.23
R2214:Srrm2	UTSW	17	24,035,719 (GRCm39)	unclassified	probably benign
R2913:Srrm2	UTSW	17	24,034,658 (GRCm39)	unclassified	probably benign
R3721:Srrm2	UTSW	17	24,041,549 (GRCm39)	small deletion	probably benign
R4411:Srrm2	UTSW	17	24,029,442 (GRCm39)	unclassified	probably benign
R4412:Srrm2	UTSW	17	24,029,442 (GRCm39)	unclassified	probably benign
R4413:Srrm2	UTSW	17	24,029,442 (GRCm39)	unclassified	probably benign
R4583:Srrm2	UTSW	17	24,038,593 (GRCm39)	unclassified	probably benign
R4910:Srrm2	UTSW	17	24,034,362 (GRCm39)	unclassified	probably benign
R4943:Srrm2	UTSW	17	24,041,389 (GRCm39)	missense	possibly damaging	0.94
R5023:Srrm2	UTSW	17	24,038,291 (GRCm39)	unclassified	probably benign
R5033:Srrm2	UTSW	17	24,039,592 (GRCm39)	missense	probably damaging	1.00
R5163:Srrm2	UTSW	17	24,038,524 (GRCm39)	unclassified	probably benign
R5186:Srrm2	UTSW	17	24,035,561 (GRCm39)	missense	probably benign	0.23
R5197:Srrm2	UTSW	17	24,036,358 (GRCm39)	missense	probably benign	0.23
R5366:Srrm2	UTSW	17	24,037,678 (GRCm39)	missense	probably benign	0.23
R5483:Srrm2	UTSW	17	24,040,246 (GRCm39)	missense	probably damaging	0.96
R5551:Srrm2	UTSW	17	24,037,450 (GRCm39)	unclassified	probably benign
R5602:Srrm2	UTSW	17	24,038,311 (GRCm39)	unclassified	probably benign
R5733:Srrm2	UTSW	17	24,040,360 (GRCm39)	missense	probably damaging	0.98
R5774:Srrm2	UTSW	17	24,037,249 (GRCm39)	unclassified	probably benign
R5909:Srrm2	UTSW	17	24,040,291 (GRCm39)	missense	probably benign	0.27
R5961:Srrm2	UTSW	17	24,039,083 (GRCm39)	unclassified	probably benign
R6122:Srrm2	UTSW	17	24,039,330 (GRCm39)	missense	possibly damaging	0.58
R6906:Srrm2	UTSW	17	24,039,337 (GRCm39)	missense	probably damaging	0.97
R7084:Srrm2	UTSW	17	24,039,290 (GRCm39)	missense	probably damaging	0.99
R7177:Srrm2	UTSW	17	24,035,747 (GRCm39)	missense	unknown
R7197:Srrm2	UTSW	17	24,037,198 (GRCm39)	missense	unknown
R7442:Srrm2	UTSW	17	24,039,091 (GRCm39)	missense	unknown
R7644:Srrm2	UTSW	17	24,038,294 (GRCm39)	missense	unknown
R7664:Srrm2	UTSW	17	24,039,955 (GRCm39)	missense	probably damaging	0.99
R7874:Srrm2	UTSW	17	24,034,652 (GRCm39)	missense	unknown
R7932:Srrm2	UTSW	17	24,037,501 (GRCm39)	missense	probably benign	0.23
R7950:Srrm2	UTSW	17	24,027,084 (GRCm39)	missense	unknown
R7958:Srrm2	UTSW	17	24,040,286 (GRCm39)	missense	probably benign	0.25
R8081:Srrm2	UTSW	17	24,039,219 (GRCm39)	missense	probably damaging	1.00
R8118:Srrm2	UTSW	17	24,027,057 (GRCm39)	missense	unknown
R8174:Srrm2	UTSW	17	24,034,297 (GRCm39)	missense	unknown
R8191:Srrm2	UTSW	17	24,039,219 (GRCm39)	missense	probably damaging	1.00
R8334:Srrm2	UTSW	17	24,027,330 (GRCm39)	missense	unknown
R8523:Srrm2	UTSW	17	24,027,489 (GRCm39)	unclassified	probably benign
R8728:Srrm2	UTSW	17	24,038,831 (GRCm39)	missense	unknown
R8912:Srrm2	UTSW	17	24,038,575 (GRCm39)	missense	probably benign	0.23
R9209:Srrm2	UTSW	17	24,039,880 (GRCm39)	missense	probably benign	0.05
RF006:Srrm2	UTSW	17	24,031,562 (GRCm39)	missense	unknown
Z1176:Srrm2	UTSW	17	24,036,157 (GRCm39)	missense	unknown
Z1177:Srrm2	UTSW	17	24,036,484 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATACCCCATCTCATAGAGCAGG -3'
(R):5'- TGGTGTTCTAGACCGAGACC -3'

Sequencing Primer
(F):5'- CCATCTCATAGAGCAGGGAGGTC -3'
(R):5'- TGTTCTAGACCGAGACCTACGC -3'

Posted On

2015-10-08