Mutagenetix > Incidental Mutation

Incidental Mutation 'R2214:Srrm2'

241047

Institutional Source

Beutler Lab

Gene Symbol

Srrm2

Ensembl Gene

ENSMUSG00000039218

Gene Name

serine/arginine repetitive matrix 2

Synonyms

5033413A03Rik, SRm300

MMRRC Submission

040216-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R2214 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24009506-24043715 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 24035719 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: S788P

SMART Domains

Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218
AA Change: S788P

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

probably benign
Transcript: ENSMUST00000186259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186914

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189977

Predicted Effect

unknown
Transcript: ENSMUST00000190686
AA Change: S884P

SMART Domains

Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: S884P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,926,946 (GRCm39)	Y516C	probably benign	Het
Adam22	C	T	5: 8,186,805 (GRCm39)		probably null	Het
Akap8l	T	C	17: 32,557,799 (GRCm39)		probably null	Het
Casr	T	C	16: 36,336,120 (GRCm39)	Y63C	probably damaging	Het
Ccdc178	T	C	18: 22,048,047 (GRCm39)	D781G	possibly damaging	Het
Col9a1	C	A	1: 24,247,283 (GRCm39)	P168Q	probably damaging	Het
Dnm2	T	C	9: 21,397,019 (GRCm39)		probably null	Het
Dst	C	T	1: 34,310,482 (GRCm39)	T6325M	probably damaging	Het
Ercc4	C	A	16: 12,927,888 (GRCm39)	D19E	probably damaging	Het
Gm1110	C	A	9: 26,813,786 (GRCm39)	V198L	probably benign	Het
Gm8674	T	A	13: 50,055,396 (GRCm39)		noncoding transcript	Het
Grm7	A	T	6: 111,335,958 (GRCm39)	I790F	probably damaging	Het
Habp2	A	G	19: 56,306,249 (GRCm39)	D445G	possibly damaging	Het
Kat7	G	A	11: 95,166,631 (GRCm39)	T517I	probably damaging	Het
Kbtbd11	T	A	8: 15,079,178 (GRCm39)	D592E	possibly damaging	Het
Lgals8	T	A	13: 12,469,713 (GRCm39)	Q82L	probably benign	Het
Lmtk3	A	G	7: 45,444,277 (GRCm39)		probably benign	Het
Map2	A	T	1: 66,459,345 (GRCm39)	D1530V	probably damaging	Het
Map2k6	G	A	11: 110,387,167 (GRCm39)	V180I	probably damaging	Het
Map3k5	T	A	10: 19,902,035 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,623,327 (GRCm39)	E2059G	probably benign	Het
Myh10	A	G	11: 68,673,953 (GRCm39)	D660G	probably damaging	Het
Myo16	T	A	8: 10,488,803 (GRCm39)	V658E	probably damaging	Het
Nckap5	A	T	1: 125,953,487 (GRCm39)	S1090T	possibly damaging	Het
Nhlrc3	T	C	3: 53,363,875 (GRCm39)	H217R	probably damaging	Het
Ntrk3	T	A	7: 78,166,520 (GRCm39)	I118F	probably damaging	Het
Or14a259	T	A	7: 86,013,414 (GRCm39)	I44F	probably benign	Het
Or1e29	A	T	11: 73,667,655 (GRCm39)	L166*	probably null	Het
Or4p20	C	T	2: 88,253,461 (GRCm39)	V303M	probably benign	Het
Paxip1	T	C	5: 27,947,499 (GRCm39)	Y1053C	probably damaging	Het
Pfkfb4	T	A	9: 108,834,677 (GRCm39)	F117I	probably benign	Het
Pp2d1	T	C	17: 53,822,424 (GRCm39)	Y214C	probably benign	Het
Prr7	C	A	13: 55,620,613 (GRCm39)	S207*	probably null	Het
Ptprh	T	A	7: 4,555,921 (GRCm39)	Q715L	possibly damaging	Het
Rasgrp1	A	T	2: 117,115,646 (GRCm39)	D647E	probably damaging	Het
Rnf20	T	A	4: 49,648,344 (GRCm39)	M384K	possibly damaging	Het
Rps6kb1	A	T	11: 86,424,896 (GRCm39)	C37S	possibly damaging	Het
Serpinb9f	C	A	13: 33,518,592 (GRCm39)	T364K	probably benign	Het
Sorbs1	C	T	19: 40,285,075 (GRCm39)	A641T	probably damaging	Het
Stag3	C	T	5: 138,299,528 (GRCm39)	S849L	possibly damaging	Het
Syt15	A	T	14: 33,944,989 (GRCm39)	S179C	probably damaging	Het
Tapbp	T	C	17: 34,139,300 (GRCm39)	F90L	possibly damaging	Het
Timm23	A	T	14: 31,920,944 (GRCm39)	D49E	probably damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tmem174	A	C	13: 98,773,757 (GRCm39)	S24R	possibly damaging	Het
Tmem63a	A	G	1: 180,788,679 (GRCm39)	S339G	probably benign	Het
Tsc22d2	A	G	3: 58,323,627 (GRCm39)	Y173C	probably damaging	Het
Ubap2	A	G	4: 41,199,714 (GRCm39)		probably null	Het
Upp1	T	A	11: 9,086,033 (GRCm39)	V290E	probably benign	Het
Uqcc4	T	C	17: 25,403,699 (GRCm39)	V13A	probably benign	Het
Usp17lb	A	T	7: 104,490,639 (GRCm39)	M96K	probably benign	Het
Wdr20rt	A	G	12: 65,274,187 (GRCm39)	E449G	probably damaging	Het
Zkscan8	A	T	13: 21,705,082 (GRCm39)	S286T	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
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
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'- ACCAGGGTCTGTAACAAACATGC -3'
(R):5'- AGTGTCTCAGTGGTGTTCCC -3'

Sequencing Primer
(F):5'- TCTGTAACAAACATGCAGGCTG -3'
(R):5'- GGATCTAGAACGGCTATGTCTTAATC -3'

Posted On

2014-10-15