Mutagenetix > Incidental Mutation

Incidental Mutation 'R5551:Srrm2'

435156

Institutional Source

Beutler Lab

Gene Symbol

Srrm2

Ensembl Gene

ENSMUSG00000039218

Gene Name

serine/arginine repetitive matrix 2

Synonyms

5033413A03Rik, SRm300

MMRRC Submission

043108-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R5551 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24009506-24043715 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 24037450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000088621
AA Change: R1365S

SMART Domains

Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218
AA Change: R1365S

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

noncoding transcript
Transcript: ENSMUST00000175240

Predicted Effect

probably benign
Transcript: ENSMUST00000186259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189977

Predicted Effect

unknown
Transcript: ENSMUST00000190686
AA Change: R1461S

SMART Domains

Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: R1461S

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB041806	G	T	4: 138,123,312 (GRCm39)	P3T	probably damaging	Het
Abl1	C	T	2: 31,691,682 (GRCm39)	A1048V	probably benign	Het
Acap2	A	G	16: 30,923,726 (GRCm39)	V659A	probably damaging	Het
Acox1	A	G	11: 116,080,317 (GRCm39)	S29P	possibly damaging	Het
Adamts1	A	G	16: 85,594,634 (GRCm39)	I405T	probably benign	Het
Afm	A	T	5: 90,679,511 (GRCm39)	E335V	probably null	Het
Akap6	C	T	12: 52,842,747 (GRCm39)	P32S	probably damaging	Het
Alk	T	C	17: 72,182,028 (GRCm39)	M1332V	possibly damaging	Het
Ankrd39	C	T	1: 36,581,062 (GRCm39)	G96R	probably damaging	Het
Atp2c1	C	A	9: 105,336,936 (GRCm39)	A16S	probably damaging	Het
Ccdc141	T	C	2: 76,844,753 (GRCm39)	E1438G	probably damaging	Het
Csmd2	T	C	4: 128,404,741 (GRCm39)	Y2376H	possibly damaging	Het
Csmd3	T	C	15: 48,177,492 (GRCm39)	T349A	probably benign	Het
Ctsr	A	T	13: 61,307,357 (GRCm39)	M313K	probably damaging	Het
Dot1l	CCAGCCCCACCCTCAGCC	CCAGCC	10: 80,619,462 (GRCm39)		probably benign	Het
Dync2h1	A	G	9: 7,031,718 (GRCm39)	S3516P	possibly damaging	Het
Ehd4	A	G	2: 119,958,100 (GRCm39)	S162P	possibly damaging	Het
Ets2	T	C	16: 95,513,165 (GRCm39)	W114R	probably damaging	Het
Fignl1	A	T	11: 11,751,603 (GRCm39)	V484E	probably damaging	Het
Golph3	C	A	15: 12,321,922 (GRCm39)	S35R	probably benign	Het
Gzf1	T	C	2: 148,526,248 (GRCm39)	Y240H	probably damaging	Het
Hook3	A	G	8: 26,558,639 (GRCm39)	F75S	possibly damaging	Het
Ifi209	T	A	1: 173,468,763 (GRCm39)	S198T	probably benign	Het
Iqch	A	T	9: 63,403,535 (GRCm39)		probably null	Het
Katnip	T	C	7: 125,419,249 (GRCm39)	F472S	probably damaging	Het
Lrrk2	C	T	15: 91,696,553 (GRCm39)	T2447I	probably benign	Het
Mesp2	T	C	7: 79,461,367 (GRCm39)	S231P	probably benign	Het
Muc5b	T	C	7: 141,422,240 (GRCm39)	C4459R	possibly damaging	Het
Myh10	A	G	11: 68,659,113 (GRCm39)	E497G	possibly damaging	Het
Nalcn	A	T	14: 123,515,698 (GRCm39)	V1701E	possibly damaging	Het
Nat8f1	T	C	6: 85,887,891 (GRCm39)	D23G	probably damaging	Het
Nfia	G	A	4: 97,902,497 (GRCm39)	E250K	probably damaging	Het
Nup155	A	G	15: 8,177,817 (GRCm39)	M1067V	probably benign	Het
Or4k36	T	C	2: 111,145,916 (GRCm39)	F31L	possibly damaging	Het
Pde4d	T	A	13: 110,084,930 (GRCm39)		probably null	Het
Rtn4	G	A	11: 29,691,011 (GRCm39)	V1101I	probably damaging	Het
Sema4c	A	G	1: 36,591,398 (GRCm39)	Y348H	probably damaging	Het
Sema6a	A	G	18: 47,381,595 (GRCm39)	V958A	possibly damaging	Het
Sez6l2	A	G	7: 126,566,002 (GRCm39)	Y677C	probably damaging	Het
Smad5	T	C	13: 56,883,654 (GRCm39)	C347R	probably damaging	Het
Smim19	A	G	8: 22,953,383 (GRCm39)	Y95H	probably benign	Het
Ssb	A	G	2: 69,701,474 (GRCm39)	K390E	probably damaging	Het
Tars1	G	A	15: 11,392,068 (GRCm39)	T248M	probably damaging	Het
Tcirg1	A	T	19: 3,948,858 (GRCm39)	F442L	probably damaging	Het
Tex55	A	G	16: 38,648,336 (GRCm39)	Y258H	probably benign	Het
Tlk2	A	G	11: 105,112,133 (GRCm39)	E162G	probably benign	Het
Tmc6	A	G	11: 117,660,271 (GRCm39)	C656R	probably damaging	Het
Ttn	G	T	2: 76,719,406 (GRCm39)		probably benign	Het
Uqcrc2	C	T	7: 120,244,461 (GRCm39)	T201I	probably damaging	Het
Zfp282	G	T	6: 47,867,579 (GRCm39)	A252S	possibly damaging	Het
Zfp473	G	C	7: 44,383,575 (GRCm39)	P253A	probably benign	Het
Zfp541	A	G	7: 15,824,786 (GRCm39)	N1068D	probably damaging	Het
Zfp946	A	G	17: 22,674,365 (GRCm39)	Q373R	probably damaging	Het
Zmat2	G	A	18: 36,927,010 (GRCm39)	G6R	probably benign	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
R4682:Srrm2	UTSW	17	24,034,666 (GRCm39)	missense	probably benign	0.23
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
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'- TAGAGATGGGTCTGGGACTC -3'
(R):5'- TCCAGAGTGACTCCTCTGTCTG -3'

Sequencing Primer
(F):5'- CTGGGACTCCTTCTAGGCATAG -3'
(R):5'- TTGGAATCTGGAGAAGAGTCTGACTC -3'

Posted On

2016-10-24