Mutagenetix > Incidental Mutation

Incidental Mutation 'R4412:Srrm2'

327989

Institutional Source

Beutler Lab

Gene Symbol

Srrm2

Ensembl Gene

ENSMUSG00000039218

Gene Name

serine/arginine repetitive matrix 2

Synonyms

5033413A03Rik, SRm300

MMRRC Submission

041135-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.949) question?

Stock #

R4412 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24009506-24043715 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 24029442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139901 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088621] [ENSMUST00000186961] [ENSMUST00000190686] [ENSMUST00000191385]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000088621
AA Change: K121E

SMART Domains

Protein: ENSMUSP00000085993
Gene: ENSMUSG00000039218
AA Change: K121E

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: ENSMUST00000186961

SMART Domains

Protein: ENSMUSP00000140813
Gene: ENSMUSG00000039218

Domain	Start	End	E-Value	Type
cwf21	58	103	5.6e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190293

Predicted Effect

unknown
Transcript: ENSMUST00000190686
AA Change: K217E

SMART Domains

Protein: ENSMUSP00000139842
Gene: ENSMUSG00000039218
AA Change: K217E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000191385

Meta Mutation Damage Score

0.0850

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,449,302 (GRCm39)		probably benign	Het
Adprhl1	T	C	8: 13,296,114 (GRCm39)	K144E	probably benign	Het
Alpl	A	G	4: 137,485,939 (GRCm39)	I2T	possibly damaging	Het
Chdh	G	T	14: 29,753,672 (GRCm39)	G194C	probably damaging	Het
Cp	A	T	3: 20,020,517 (GRCm39)	D170V	probably damaging	Het
Cpne9	A	G	6: 113,266,962 (GRCm39)	K132E	possibly damaging	Het
Cyp2b9	T	G	7: 25,897,868 (GRCm39)	L224R	probably damaging	Het
Dmxl1	A	G	18: 49,981,828 (GRCm39)	N153S	probably benign	Het
Dnah17	T	C	11: 117,964,509 (GRCm39)	Y2423C	probably damaging	Het
Dnajc14	G	T	10: 128,642,074 (GRCm39)		probably benign	Het
Eipr1	A	T	12: 28,909,372 (GRCm39)	D213V	probably damaging	Het
Fat1	T	C	8: 45,476,636 (GRCm39)	V1894A	probably damaging	Het
Flrt2	G	A	12: 95,747,047 (GRCm39)	V462I	probably benign	Het
Gigyf2	A	G	1: 87,364,582 (GRCm39)	E954G	probably damaging	Het
Glis1	A	G	4: 107,491,915 (GRCm39)	H593R	probably damaging	Het
Gpr21	C	G	2: 37,407,444 (GRCm39)		probably benign	Het
Gsdmc3	A	G	15: 63,738,645 (GRCm39)	M139T	probably benign	Het
Hydin	C	T	8: 111,142,368 (GRCm39)	T749I	probably damaging	Het
Ilf3	C	T	9: 21,310,856 (GRCm39)	P620S	possibly damaging	Het
Khdc3	A	G	9: 73,010,156 (GRCm39)	T71A	possibly damaging	Het
Ms4a12	T	C	19: 11,207,807 (GRCm39)	N33S	probably benign	Het
Nisch	A	G	14: 30,908,615 (GRCm39)		probably benign	Het
Npr2	G	A	4: 43,644,150 (GRCm39)	C593Y	probably damaging	Het
Npr3	G	C	15: 11,905,235 (GRCm39)	T164R	probably benign	Het
Or4c1	A	G	2: 89,133,684 (GRCm39)	I84T	probably benign	Het
Palld	A	G	8: 62,140,406 (GRCm39)	Y534H	probably damaging	Het
Pcdhb10	TC	T	18: 37,547,194 (GRCm39)		probably null	Het
Plekhg3	A	C	12: 76,624,538 (GRCm39)	T1127P	probably damaging	Het
Podnl1	A	T	8: 84,857,294 (GRCm39)	H301L	probably benign	Het
Ripk2	A	G	4: 16,124,511 (GRCm39)	V399A	probably benign	Het
Rpp30	T	A	19: 36,077,655 (GRCm39)	N172K	possibly damaging	Het
Sin3b	C	T	8: 73,466,407 (GRCm39)	A291V	probably benign	Het
Slc12a6	A	T	2: 112,166,233 (GRCm39)	Q204L	possibly damaging	Het
Snx9	C	T	17: 5,958,669 (GRCm39)	T249M	probably damaging	Het
Sohlh2	C	A	3: 55,104,423 (GRCm39)	T264K	probably damaging	Het
Syne2	T	A	12: 76,152,834 (GRCm39)	H6674Q	probably benign	Het
Tyw1	T	A	5: 130,364,073 (GRCm39)		probably null	Het
Vmn1r115	C	T	7: 20,578,207 (GRCm39)	R235K	probably benign	Het
Vmn2r50	A	C	7: 9,784,235 (GRCm39)	F80V	probably damaging	Het
Yme1l1	G	A	2: 23,065,199 (GRCm39)	R236H	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
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'- TCATTGATTATGTAGCCCAGCC -3'
(R):5'- ACCCTTCAATTTAAGAGCTACCTC -3'

Sequencing Primer
(F):5'- AAAAGGAAGCAGTATTTTGGATTTG -3'
(R):5'- GAACTTCCACCTTAGCCAGAGGTG -3'

Posted On

2015-07-07