Mutagenetix > Incidental Mutation

Incidental Mutation 'R5394:Mms22l'

426018

Institutional Source

Beutler Lab

Gene Symbol

Mms22l

Ensembl Gene

ENSMUSG00000045751

Gene Name

MMS22-like, DNA repair protein

Synonyms

F730047E07Rik

MMRRC Submission

042966-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24496451-24602950 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24517115 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 222 (D222G)

Ref Sequence

ENSEMBL: ENSMUSP00000133658 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050446] [ENSMUST00000108222] [ENSMUST00000172622]

AlphaFold

B1AUR6

Predicted Effect

probably benign
Transcript: ENSMUST00000050446
AA Change: D332G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000057715
Gene: ENSMUSG00000045751
AA Change: D332G

Domain	Start	End	E-Value	Type
Pfam:MMS22L_N	26	395	1.1e-199	PFAM
Pfam:MMS22L_N	392	690	4.6e-155	PFAM
low complexity region	698	711	N/A	INTRINSIC
low complexity region	761	770	N/A	INTRINSIC
Pfam:MMS22L_C	809	1186	2.3e-133	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108222
AA Change: D332G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103857
Gene: ENSMUSG00000045751
AA Change: D332G

Domain	Start	End	E-Value	Type
Pfam:MMS22L_N	26	730	N/A	PFAM
low complexity region	738	751	N/A	INTRINSIC
low complexity region	801	810	N/A	INTRINSIC
Pfam:MMS22L_C	849	1225	1.4e-142	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000131282
AA Change: D60G

SMART Domains

Protein: ENSMUSP00000133800
Gene: ENSMUSG00000045751
AA Change: D60G

Domain	Start	End	E-Value	Type
Pfam:MMS22L_N	1	459	1.3e-239	PFAM
low complexity region	467	480	N/A	INTRINSIC
low complexity region	530	539	N/A	INTRINSIC
Pfam:MMS22L_C	578	733	1.9e-58	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154349

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172622
AA Change: D222G

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133658
Gene: ENSMUSG00000045751
AA Change: D222G

Domain	Start	End	E-Value	Type
Pfam:MMS22L_N	1	204	2.5e-112	PFAM
Pfam:MMS22L_N	202	323	2.2e-61	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173079

Meta Mutation Damage Score

0.0627

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

97% (96/99)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants exist for this gene, but the full-length nature of only one has been determined to date. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null mutation die prenatally. Heterozygous mice exhibit defects in pinna responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	G	3: 146,356,363 (GRCm39)	F182L	probably damaging	Het
4930503B20Rik	T	C	3: 146,356,713 (GRCm39)	Y65C	probably damaging	Het
4930590J08Rik	A	G	6: 91,896,174 (GRCm39)	T341A	probably benign	Het
Adamts13	G	A	2: 26,876,570 (GRCm39)	V495I	probably benign	Het
Alms1	C	A	6: 85,600,070 (GRCm39)	T2101K	probably benign	Het
Als2	T	C	1: 59,214,105 (GRCm39)	D1361G	probably benign	Het
Ankdd1a	A	T	9: 65,412,496 (GRCm39)	M275K	probably benign	Het
Arfip2	A	T	7: 105,286,183 (GRCm39)	Y161*	probably null	Het
Asap3	A	T	4: 135,968,570 (GRCm39)	E707D	probably benign	Het
Atm	C	T	9: 53,419,077 (GRCm39)		probably null	Het
Atp9b	A	T	18: 80,820,052 (GRCm39)	S577R	probably benign	Het
Bltp1	G	T	3: 36,971,817 (GRCm39)	V517F	probably damaging	Het
Camk1d	G	C	2: 5,308,177 (GRCm39)	D274E	probably benign	Het
Cebpz	C	T	17: 79,229,634 (GRCm39)	D907N	probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cnst	T	A	1: 179,429,301 (GRCm39)		probably benign	Het
Cog2	G	T	8: 125,259,268 (GRCm39)	V196L	probably benign	Het
Col11a1	A	G	3: 113,987,833 (GRCm39)		probably null	Het
Cops6	T	A	5: 138,161,762 (GRCm39)		probably null	Het
Cspg4	A	G	9: 56,797,484 (GRCm39)	E1316G	probably damaging	Het
Cwc22	G	C	2: 77,759,683 (GRCm39)	D122E	possibly damaging	Het
Dapk2	G	A	9: 66,176,000 (GRCm39)	V300M	probably benign	Het
Dcp1b	C	A	6: 119,152,328 (GRCm39)	D25E	probably damaging	Het
Ddx10	A	T	9: 53,145,157 (GRCm39)	Y273*	probably null	Het
Dhx58	T	C	11: 100,589,034 (GRCm39)	E504G	probably benign	Het
Dync2h1	C	T	9: 7,120,899 (GRCm39)	W2129*	probably null	Het
Egr4	A	T	6: 85,489,442 (GRCm39)	L206Q	probably damaging	Het
Eif4g3	A	G	4: 137,830,709 (GRCm39)		probably null	Het
Fbxo46	A	G	7: 18,870,541 (GRCm39)	N387D	possibly damaging	Het
Fpr-rs3	T	G	17: 20,844,470 (GRCm39)	M224L	probably benign	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gxylt2	A	G	6: 100,682,075 (GRCm39)	K91E	probably benign	Het
Hecw1	A	T	13: 14,497,174 (GRCm39)	V278E	probably damaging	Het
Hydin	A	G	8: 111,266,474 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,875,641 (GRCm39)	L776P	probably damaging	Het
Kcnh2	T	A	5: 24,537,039 (GRCm39)	T182S	probably benign	Het
Kplce	T	C	3: 92,776,005 (GRCm39)	E226G	probably damaging	Het
Lats2	T	G	14: 57,928,810 (GRCm39)	S1022R	probably benign	Het
Lef1	C	T	3: 130,988,308 (GRCm39)	P264S	probably damaging	Het
Lyrm1	A	C	7: 119,513,471 (GRCm39)	I79L	possibly damaging	Het
Macroh2a2	G	A	10: 61,587,466 (GRCm39)	T156M	possibly damaging	Het
Man2b2	T	G	5: 36,971,862 (GRCm39)	Q618P	probably benign	Het
Mei1	T	C	15: 81,976,957 (GRCm39)	V180A	possibly damaging	Het
Mmp15	A	T	8: 96,093,032 (GRCm39)	N137I	probably damaging	Het
Mmut	T	A	17: 41,258,075 (GRCm39)	S414T	probably benign	Het
Myo18a	T	C	11: 77,744,176 (GRCm39)	M1846T	probably benign	Het
Neo1	A	T	9: 58,897,517 (GRCm39)	N146K	probably benign	Het
Nos3	A	G	5: 24,588,888 (GRCm39)	T1174A	probably benign	Het
Or10d4b	A	T	9: 39,534,430 (GRCm39)	T4S	probably benign	Het
Or10x1	T	C	1: 174,196,836 (GRCm39)	Y118H	probably damaging	Het
Or4c125	A	T	2: 89,169,806 (GRCm39)	I280N	probably damaging	Het
Or51f1	A	T	7: 102,505,686 (GRCm39)	S268T	probably damaging	Het
Pax8	A	T	2: 24,332,922 (GRCm39)		probably benign	Het
Pde5a	G	A	3: 122,611,658 (GRCm39)	C532Y	probably damaging	Het
Pigq	T	C	17: 26,150,446 (GRCm39)	D442G	possibly damaging	Het
Pik3c2g	T	C	6: 139,665,808 (GRCm39)	V43A	probably benign	Het
Pik3cb	T	C	9: 98,970,716 (GRCm39)	N325S	probably benign	Het
Pot1b	T	C	17: 56,007,063 (GRCm39)	K18R	probably benign	Het
Ppp1r42	A	T	1: 10,069,630 (GRCm39)	L144Q	probably damaging	Het
Prdm13	T	A	4: 21,679,455 (GRCm39)	Q345L	unknown	Het
Pyroxd2	T	A	19: 42,728,898 (GRCm39)	K167N	probably benign	Het
Rnf123	T	C	9: 107,947,930 (GRCm39)	Y131C	probably damaging	Het
Rnf25	T	C	1: 74,634,411 (GRCm39)	D204G	probably damaging	Het
Rpf2	G	A	10: 40,109,181 (GRCm39)	T60I	possibly damaging	Het
Scaf11	T	C	15: 96,317,339 (GRCm39)	N742D	probably benign	Het
Shank1	G	A	7: 44,002,075 (GRCm39)	D1257N	possibly damaging	Het
Shc2	A	G	10: 79,465,933 (GRCm39)	V168A	probably damaging	Het
Slc16a4	G	A	3: 107,199,758 (GRCm39)	V2M	probably benign	Het
Slc24a3	T	C	2: 145,455,494 (GRCm39)	V461A	probably benign	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slc4a4	T	A	5: 89,345,623 (GRCm39)		probably null	Het
Snx30	T	A	4: 59,879,329 (GRCm39)	D189E	probably benign	Het
Sspo	A	G	6: 48,472,194 (GRCm39)	Q4653R	possibly damaging	Het
Tpte	G	T	8: 22,817,806 (GRCm39)	R264I	probably damaging	Het
Tsc22d4	T	A	5: 137,757,036 (GRCm39)		probably benign	Het
Ubn1	T	C	16: 4,892,233 (GRCm39)	L585P	possibly damaging	Het
Usp24	A	T	4: 106,265,210 (GRCm39)	D1781V	probably damaging	Het
Utp20	A	T	10: 88,608,777 (GRCm39)	Y1514*	probably null	Het
Vmn1r55	A	T	7: 5,149,995 (GRCm39)	Y143N	probably damaging	Het
Vmn2r65	A	G	7: 84,595,862 (GRCm39)	V274A	probably benign	Het
Wdr17	A	G	8: 55,092,524 (GRCm39)	S1087P	possibly damaging	Het
Wnt5b	C	A	6: 119,417,283 (GRCm39)	R156L	probably damaging	Het
Zan	T	C	5: 137,433,896 (GRCm39)	D2279G	unknown	Het
Zan	T	C	5: 137,462,336 (GRCm39)	T948A	unknown	Het
Zfp758	T	C	17: 22,591,049 (GRCm39)	S4P	probably damaging	Het
Zfp839	A	G	12: 110,822,020 (GRCm39)	E278G	probably benign	Het
Zfp994	T	A	17: 22,419,506 (GRCm39)	H481L	probably damaging	Het
Zswim9	G	A	7: 12,994,909 (GRCm39)	R416C	probably damaging	Het

Other mutations in Mms22l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01648:Mms22l	APN	4	24,502,805 (GRCm39)	missense	probably damaging	1.00
IGL02158:Mms22l	APN	4	24,505,349 (GRCm39)	missense	probably damaging	0.98
IGL02533:Mms22l	APN	4	24,581,099 (GRCm39)	splice site	probably benign
IGL02612:Mms22l	APN	4	24,508,482 (GRCm39)	missense	probably benign	0.03
IGL02685:Mms22l	APN	4	24,591,133 (GRCm39)	missense	probably benign
IGL03000:Mms22l	APN	4	24,581,161 (GRCm39)	missense	probably damaging	0.99
IGL03006:Mms22l	APN	4	24,521,253 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Mms22l	UTSW	4	24,581,149 (GRCm39)	missense	probably benign	0.08
R0157:Mms22l	UTSW	4	24,588,224 (GRCm39)	missense	probably damaging	1.00
R0279:Mms22l	UTSW	4	24,497,867 (GRCm39)	missense	probably damaging	1.00
R0669:Mms22l	UTSW	4	24,517,223 (GRCm39)	missense	probably benign	0.00
R1056:Mms22l	UTSW	4	24,586,344 (GRCm39)	critical splice donor site	probably null
R1232:Mms22l	UTSW	4	24,536,274 (GRCm39)	missense	probably benign	0.24
R1389:Mms22l	UTSW	4	24,591,076 (GRCm39)	missense	probably damaging	1.00
R1543:Mms22l	UTSW	4	24,591,084 (GRCm39)	missense	probably benign	0.41
R1604:Mms22l	UTSW	4	24,502,804 (GRCm39)	missense	probably damaging	1.00
R1872:Mms22l	UTSW	4	24,598,807 (GRCm39)	missense	probably damaging	0.99
R1929:Mms22l	UTSW	4	24,535,936 (GRCm39)	unclassified	probably benign
R2024:Mms22l	UTSW	4	24,588,365 (GRCm39)	missense	probably damaging	1.00
R2081:Mms22l	UTSW	4	24,536,150 (GRCm39)	missense	probably damaging	1.00
R2104:Mms22l	UTSW	4	24,591,084 (GRCm39)	missense	probably benign	0.41
R2147:Mms22l	UTSW	4	24,580,063 (GRCm39)	nonsense	probably null
R2379:Mms22l	UTSW	4	24,496,929 (GRCm39)	missense	possibly damaging	0.87
R2496:Mms22l	UTSW	4	24,521,269 (GRCm39)	missense	probably benign	0.31
R3508:Mms22l	UTSW	4	24,586,224 (GRCm39)	missense	probably benign	0.01
R3625:Mms22l	UTSW	4	24,505,357 (GRCm39)	missense	probably damaging	1.00
R3789:Mms22l	UTSW	4	24,517,115 (GRCm39)	missense	possibly damaging	0.75
R4422:Mms22l	UTSW	4	24,503,008 (GRCm39)	missense	probably damaging	1.00
R4623:Mms22l	UTSW	4	24,502,792 (GRCm39)	nonsense	probably null
R4799:Mms22l	UTSW	4	24,580,052 (GRCm39)	critical splice acceptor site	probably null
R4825:Mms22l	UTSW	4	24,536,226 (GRCm39)	missense	probably damaging	1.00
R5236:Mms22l	UTSW	4	24,588,347 (GRCm39)	missense	probably benign	0.02
R5276:Mms22l	UTSW	4	24,578,774 (GRCm39)	missense	probably damaging	1.00
R5364:Mms22l	UTSW	4	24,496,882 (GRCm39)	unclassified	probably benign
R6905:Mms22l	UTSW	4	24,503,107 (GRCm39)	missense	probably benign	0.00
R7206:Mms22l	UTSW	4	24,591,146 (GRCm39)	missense	probably benign	0.00
R7290:Mms22l	UTSW	4	24,517,139 (GRCm39)	missense	probably benign
R7425:Mms22l	UTSW	4	24,596,287 (GRCm39)	missense	probably benign	0.15
R7524:Mms22l	UTSW	4	24,536,138 (GRCm39)	missense	possibly damaging	0.89
R7536:Mms22l	UTSW	4	24,581,240 (GRCm39)	missense	probably damaging	0.99
R7722:Mms22l	UTSW	4	24,517,201 (GRCm39)	missense	probably damaging	1.00
R7757:Mms22l	UTSW	4	24,598,884 (GRCm39)	critical splice donor site	probably null
R7764:Mms22l	UTSW	4	24,598,842 (GRCm39)	missense	probably damaging	1.00
R7947:Mms22l	UTSW	4	24,505,373 (GRCm39)	missense	probably damaging	1.00
R8220:Mms22l	UTSW	4	24,536,375 (GRCm39)	missense	probably damaging	1.00
R8316:Mms22l	UTSW	4	24,578,855 (GRCm39)	missense	probably damaging	0.98
R8472:Mms22l	UTSW	4	24,502,943 (GRCm39)	missense	possibly damaging	0.86
R8495:Mms22l	UTSW	4	24,496,908 (GRCm39)	start codon destroyed	probably null	0.96
R8699:Mms22l	UTSW	4	24,507,363 (GRCm39)	missense	possibly damaging	0.72
R8795:Mms22l	UTSW	4	24,536,245 (GRCm39)	missense	probably benign	0.21
R8932:Mms22l	UTSW	4	24,533,029 (GRCm39)	missense	probably damaging	1.00
R8979:Mms22l	UTSW	4	24,580,070 (GRCm39)	missense	probably benign	0.01
R8996:Mms22l	UTSW	4	24,598,884 (GRCm39)	critical splice donor site	probably null
R9184:Mms22l	UTSW	4	24,596,182 (GRCm39)	missense	probably damaging	1.00
R9194:Mms22l	UTSW	4	24,600,185 (GRCm39)	nonsense	probably null
R9204:Mms22l	UTSW	4	24,581,153 (GRCm39)	missense	probably damaging	1.00
R9258:Mms22l	UTSW	4	24,588,238 (GRCm39)	missense	probably damaging	1.00
R9266:Mms22l	UTSW	4	24,578,878 (GRCm39)	missense	probably damaging	1.00
R9403:Mms22l	UTSW	4	24,580,204 (GRCm39)	critical splice donor site	probably null
R9788:Mms22l	UTSW	4	24,586,204 (GRCm39)	missense	probably benign	0.08
RF005:Mms22l	UTSW	4	24,517,207 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- ATCAGTGTTCATAATTGATGCTCTG -3'
(R):5'- ACATGATTCCCCTTAGACACTC -3'

Sequencing Primer
(F):5'- ATGCTCTGTTTTGTGTATTTTAACG -3'
(R):5'- CTTTGGAGCAATGCAAACCATG -3'

Posted On

2016-08-04