Mutagenetix > Incidental Mutation

Incidental Mutation 'R1618:Srrm2'

174473

Institutional Source

Beutler Lab

Gene Symbol

Srrm2

Ensembl Gene

ENSMUSG00000039218

Gene Name

serine/arginine repetitive matrix 2

Synonyms

5033413A03Rik, SRm300

MMRRC Submission

039655-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R1618 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24009506-24043715 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 24037906 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: S1517T

SMART Domains

Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218
AA Change: S1517T

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

noncoding transcript
Transcript: ENSMUST00000190568

Predicted Effect

unknown
Transcript: ENSMUST00000190686
AA Change: S1613T

SMART Domains

Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: S1613T

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

0.0601

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.3%
20x: 89.1%

Validation Efficiency

96% (79/82)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449E01Rik	T	C	14: 105,736,380 (GRCm39)		noncoding transcript	Het
Abca8b	A	T	11: 109,840,714 (GRCm39)		probably benign	Het
Akp3	G	A	1: 87,055,593 (GRCm39)	G547R	unknown	Het
Anln	A	G	9: 22,262,214 (GRCm39)		probably null	Het
Anpep	T	G	7: 79,485,165 (GRCm39)	Q607P	probably benign	Het
Arl13b	A	C	16: 62,633,640 (GRCm39)		probably null	Het
Asxl3	T	C	18: 22,650,044 (GRCm39)	S678P	probably damaging	Het
Atf6b	C	T	17: 34,866,702 (GRCm39)	Q58*	probably null	Het
Camsap3	A	G	8: 3,648,740 (GRCm39)	T20A	probably benign	Het
Cfap46	T	A	7: 139,232,726 (GRCm39)	M782L	probably benign	Het
Cngb3	T	C	4: 19,364,260 (GRCm39)	S155P	probably benign	Het
Coro1a	T	C	7: 126,300,719 (GRCm39)	I162V	probably benign	Het
Cry1	T	A	10: 84,982,318 (GRCm39)	I343F	probably damaging	Het
Csnk1e	A	T	15: 79,309,050 (GRCm39)	M292K	probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cul9	A	T	17: 46,836,818 (GRCm39)	M1069K	probably benign	Het
Cyp2c67	C	A	19: 39,631,708 (GRCm39)		probably benign	Het
Dnah11	T	C	12: 117,979,200 (GRCm39)	I2633V	probably damaging	Het
Eif4g3	C	A	4: 137,933,369 (GRCm39)	D1731E	probably damaging	Het
Epb41l4b	T	C	4: 57,032,204 (GRCm39)	T592A	probably benign	Het
Evi5	T	C	5: 107,946,984 (GRCm39)		probably benign	Het
Exo1	T	A	1: 175,728,952 (GRCm39)	M672K	probably benign	Het
Fcho1	T	C	8: 72,163,047 (GRCm39)	S661G	probably damaging	Het
Fnip2	A	G	3: 79,415,475 (GRCm39)	Y188H	possibly damaging	Het
Foxb1	T	C	9: 69,667,293 (GRCm39)	D79G	probably damaging	Het
Fyco1	T	C	9: 123,658,346 (GRCm39)	Y610C	probably damaging	Het
Gm3095	T	A	14: 15,170,441 (GRCm39)	Y97N	probably damaging	Het
Gm3095	C	A	14: 15,170,440 (GRCm39)	N96K	probably damaging	Het
Gmfb	A	T	14: 47,049,237 (GRCm39)	L128*	probably null	Het
Gprc5c	T	A	11: 114,755,220 (GRCm39)	V299D	possibly damaging	Het
Hsfy2	C	T	1: 56,676,388 (GRCm39)	V50I	probably benign	Het
Hspa12b	A	C	2: 130,982,849 (GRCm39)	K236Q	probably benign	Het
Impg2	A	G	16: 56,080,221 (GRCm39)	Y566C	probably damaging	Het
Itpr3	A	C	17: 27,335,581 (GRCm39)		probably null	Het
Kprp	G	A	3: 92,732,783 (GRCm39)	T89I	probably damaging	Het
Lcmt2	T	C	2: 120,969,133 (GRCm39)	E650G	probably damaging	Het
Lrch1	T	C	14: 75,051,144 (GRCm39)	D331G	probably damaging	Het
Mroh9	T	A	1: 162,852,110 (GRCm39)	I860F	probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myt1l	A	G	12: 29,877,396 (GRCm39)	D349G	unknown	Het
Ndufs2	T	C	1: 171,073,690 (GRCm39)	T31A	probably benign	Het
Ndufs3	A	T	2: 90,729,016 (GRCm39)	S157T	probably benign	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Noct	T	A	3: 51,155,251 (GRCm39)	S6R	probably damaging	Het
Npas2	T	A	1: 39,339,808 (GRCm39)	H119Q	probably damaging	Het
Oprl1	A	T	2: 181,360,646 (GRCm39)	Y207F	probably benign	Het
Or2n1e	G	A	17: 38,586,557 (GRCm39)		probably null	Het
Or4c11	A	G	2: 88,695,871 (GRCm39)		probably null	Het
Or8k30	T	G	2: 86,339,193 (GRCm39)	L130R	probably damaging	Het
Palm3	G	T	8: 84,756,291 (GRCm39)	S601I	possibly damaging	Het
Plscr1	T	A	9: 92,148,548 (GRCm39)	C163S	probably damaging	Het
Ptprk	A	T	10: 28,369,166 (GRCm39)	M713L	probably benign	Het
Rdm1	A	G	11: 101,519,217 (GRCm39)	D72G	possibly damaging	Het
Reln	T	C	5: 22,265,366 (GRCm39)	D442G	probably benign	Het
Rims4	C	T	2: 163,705,849 (GRCm39)	V262M	possibly damaging	Het
Sbno1	T	C	5: 124,542,279 (GRCm39)	Y338C	probably damaging	Het
Seh1l	T	G	18: 67,921,806 (GRCm39)	V222G	probably damaging	Het
Septin12	T	C	16: 4,814,340 (GRCm39)	K43R	probably damaging	Het
Slc25a18	A	C	6: 120,763,303 (GRCm39)		probably benign	Het
Slc33a1	T	C	3: 63,855,650 (GRCm39)	T332A	possibly damaging	Het
Slc35d3	A	G	10: 19,724,909 (GRCm39)	S316P	probably benign	Het
Spmip7	A	G	11: 11,438,641 (GRCm39)		probably benign	Het
Srsf12	C	T	4: 33,230,974 (GRCm39)	S156L	probably damaging	Het
Syce3	A	G	15: 89,274,606 (GRCm39)	M49T	probably benign	Het
Tjp3	T	C	10: 81,112,094 (GRCm39)		probably benign	Het
Tnks	G	T	8: 35,342,430 (GRCm39)	N373K	probably damaging	Het
Togaram1	A	G	12: 65,013,847 (GRCm39)	N366S	possibly damaging	Het
Trpm1	G	A	7: 63,890,283 (GRCm39)	R962H	probably damaging	Het
Trpm6	A	T	19: 18,854,995 (GRCm39)	M1885L	possibly damaging	Het
Tshz3	A	G	7: 36,471,221 (GRCm39)	D1070G	probably damaging	Het
Ush2a	T	C	1: 188,546,421 (GRCm39)	M3399T	probably benign	Het
Utp15	G	A	13: 98,393,695 (GRCm39)	T196I	probably benign	Het
Vmn1r168	T	C	7: 23,240,725 (GRCm39)	I194T	probably benign	Het
Vmn2r73	C	T	7: 85,525,120 (GRCm39)	W9*	probably null	Het
Wdr17	T	C	8: 55,092,930 (GRCm39)	Y1076C	probably damaging	Het
Zan	T	C	5: 137,382,092 (GRCm39)	T5152A	unknown	Het
Zbtb46	A	T	2: 181,066,042 (GRCm39)	V36E	possibly damaging	Het
Zfp558	T	C	9: 18,380,579 (GRCm39)	I9M	possibly damaging	Het
Zscan2	T	A	7: 80,525,534 (GRCm39)	Y418*	probably null	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
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
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'- AGGTTGACAGCAAATCTCGACACTC -3'
(R):5'- ACTGAAGGACTTCTTCTGCGTCTTG -3'

Sequencing Primer
(F):5'- GCTCAGTAGGTCTGGCTCATC -3'
(R):5'- AGCGGATTTCTGGTGATGAG -3'

Posted On

2014-04-24