Mutagenetix > Incidental Mutation

Incidental Mutation 'R1991:Blm'

225139

Institutional Source

Beutler Lab

Gene Symbol

Blm

Ensembl Gene

ENSMUSG00000030528

Gene Name

Bloom syndrome, RecQ like helicase

Synonyms

MMRRC Submission

040002-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 80505949 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081314] [ENSMUST00000170315]

AlphaFold

O88700

Predicted Effect

probably null
Transcript: ENSMUST00000081314

SMART Domains

Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528

Domain	Start	End	E-Value	Type
low complexity region	46	54	N/A	INTRINSIC
low complexity region	118	132	N/A	INTRINSIC
low complexity region	142	169	N/A	INTRINSIC
low complexity region	219	231	N/A	INTRINSIC
low complexity region	318	335	N/A	INTRINSIC
Pfam:BDHCT	376	416	5.5e-27	PFAM
low complexity region	557	574	N/A	INTRINSIC
DEXDc	672	873	1.59e-29	SMART
HELICc	910	992	1.29e-24	SMART
RQC	1084	1198	1.43e-15	SMART
HRDC	1217	1297	9.4e-20	SMART
low complexity region	1357	1371	N/A	INTRINSIC
low complexity region	1378	1392	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166096

Predicted Effect

probably null
Transcript: ENSMUST00000170315

SMART Domains

Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528

Domain	Start	End	E-Value	Type
Pfam:BLM_N	4	375	1.1e-161	PFAM
Pfam:BDHCT	380	419	6.4e-25	PFAM
Pfam:BDHCT_assoc	433	658	8.8e-108	PFAM
DEXDc	675	876	1.59e-29	SMART
HELICc	913	995	1.29e-24	SMART
Pfam:RecQ_Zn_bind	1006	1078	1.5e-19	PFAM
RQC	1087	1201	1.43e-15	SMART
HRDC	1220	1300	9.4e-20	SMART
low complexity region	1360	1374	N/A	INTRINSIC
low complexity region	1381	1395	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205263

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (124/124)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are developmentally delayed, with increased apopotosis in the epiblast and severe anemia, dying at embyronic day 13.5; but homozygotes for a cre mediated recombinant allele are viable Bloom syndrome-like mice prone to a wide variety of cancers and showing increased rates of LOH. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 138,065,658 (GRCm38)	R203*	probably null	Het
Abcc2	A	T	19: 43,807,142 (GRCm38)	I446F	probably damaging	Het
Afap1l2	A	T	19: 57,002,267 (GRCm38)	I18N	possibly damaging	Het
Aida	A	T	1: 183,313,692 (GRCm38)	E107D	probably benign	Het
Amer2	A	G	14: 60,379,820 (GRCm38)	Y362C	probably damaging	Het
Amigo1	T	C	3: 108,187,328 (GRCm38)	S48P	probably benign	Het
Ano5	A	G	7: 51,537,813 (GRCm38)	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,483,816 (GRCm38)	D95V	probably damaging	Het
Arhgap22	A	G	14: 33,366,959 (GRCm38)	N466D	probably damaging	Het
Armc3	T	C	2: 19,293,142 (GRCm38)	Y575H	probably damaging	Het
Ascc2	A	G	11: 4,679,257 (GRCm38)	E523G	probably benign	Het
B3galt5	A	T	16: 96,316,025 (GRCm38)	K286M	probably damaging	Het
Bag3	C	T	7: 128,545,683 (GRCm38)	H341Y	probably benign	Het
Cacna1b	G	A	2: 24,732,306 (GRCm38)	P222L	probably damaging	Het
Cap2	T	A	13: 46,637,881 (GRCm38)	Y175N	possibly damaging	Het
Cd81	G	T	7: 143,067,201 (GRCm38)	G206*	probably null	Het
Cep290	T	A	10: 100,531,184 (GRCm38)	S1132R	possibly damaging	Het
Cluh	C	A	11: 74,659,529 (GRCm38)	C222*	probably null	Het
Col14a1	A	T	15: 55,449,940 (GRCm38)	D1320V	unknown	Het
Col18a1	T	C	10: 77,081,154 (GRCm38)	I114V	unknown	Het
Cped1	A	G	6: 22,233,927 (GRCm38)	T847A	probably damaging	Het
Cpne7	A	G	8: 123,127,437 (GRCm38)	K288E	possibly damaging	Het
Cr2	G	A	1: 195,154,150 (GRCm38)	P1278S	possibly damaging	Het
Creb3	C	A	4: 43,565,327 (GRCm38)	R202S	probably damaging	Het
Cyp2j9	T	A	4: 96,571,964 (GRCm38)	K434M	probably damaging	Het
Dpp10	A	T	1: 123,905,106 (GRCm38)	V48E	probably null	Het
Dsg2	A	G	18: 20,601,473 (GRCm38)	K836R	probably damaging	Het
Dst	A	G	1: 34,190,258 (GRCm38)	T1986A	probably benign	Het
Dvl1	G	A	4: 155,847,816 (GRCm38)	V28I	possibly damaging	Het
Ecm2	A	G	13: 49,530,256 (GRCm38)	D570G	probably benign	Het
Efhc1	T	A	1: 20,989,560 (GRCm38)	C611*	probably null	Het
Epop	T	C	11: 97,628,654 (GRCm38)	T210A	probably benign	Het
Erc2	A	G	14: 28,011,636 (GRCm38)	I556V	probably benign	Het
Fdxacb1	A	T	9: 50,771,646 (GRCm38)	N101I	probably benign	Het
Fhad1	T	C	4: 141,982,162 (GRCm38)	S294G	possibly damaging	Het
Galnt16	A	G	12: 80,583,656 (GRCm38)	D262G	probably damaging	Het
Gm9573	A	T	17: 35,618,708 (GRCm38)	S1529T	probably benign	Het
Gorab	A	G	1: 163,397,056 (GRCm38)	S59P	probably damaging	Het
Gpr161	G	T	1: 165,306,563 (GRCm38)	M131I	probably damaging	Het
Gpr22	T	A	12: 31,709,203 (GRCm38)	M270L	probably benign	Het
Grin3b	C	T	10: 79,974,646 (GRCm38)	A662V	probably damaging	Het
Grin3b	C	A	10: 79,970,912 (GRCm38)	Q5K	probably benign	Het
Gsdmc	A	G	15: 63,801,899 (GRCm38)	I179T	probably benign	Het
Gsdmc2	T	A	15: 63,828,237 (GRCm38)	M229L	probably benign	Het
H2-Eb2	A	G	17: 34,334,304 (GRCm38)	I155V	probably benign	Het
Hoga1	A	C	19: 42,060,020 (GRCm38)		probably null	Het
Hs3st5	A	G	10: 36,832,886 (GRCm38)	Y139C	probably damaging	Het
Il10ra	C	A	9: 45,255,811 (GRCm38)	A481S	probably benign	Het
Ints2	T	A	11: 86,248,934 (GRCm38)	H278L	possibly damaging	Het
Kalrn	T	G	16: 33,975,738 (GRCm38)	L1222F	probably damaging	Het
Klhl25	T	A	7: 75,866,732 (GRCm38)	V157D	probably damaging	Het
Klk1b26	A	T	7: 44,016,900 (GRCm38)	T256S	probably damaging	Het
Krt81	T	C	15: 101,462,554 (GRCm38)	Q184R	probably benign	Het
Lce1k	A	T	3: 92,806,818 (GRCm38)	C20S	unknown	Het
Letm1	A	AG	5: 33,769,515 (GRCm38)		probably null	Het
Lin54	A	G	5: 100,485,801 (GRCm38)		probably null	Het
Lrrc37a	T	C	11: 103,500,261 (GRCm38)	E1446G	probably benign	Het
Macf1	A	G	4: 123,456,695 (GRCm38)	S3792P	probably damaging	Het
Manba	T	A	3: 135,551,191 (GRCm38)	D538E	probably benign	Het
Mcc	C	A	18: 44,491,315 (GRCm38)	E213*	probably null	Het
Mfap4	T	C	11: 61,485,807 (GRCm38)		probably null	Het
Nebl	T	A	2: 17,452,510 (GRCm38)	I80F	probably damaging	Het
Nek4	A	G	14: 30,956,953 (GRCm38)	I145V	probably damaging	Het
Nlrp14	T	C	7: 107,196,200 (GRCm38)	V230A	probably benign	Het
Nxf3	G	A	X: 136,075,834 (GRCm38)	P380S	possibly damaging	Het
Olfr1451	T	C	19: 12,999,502 (GRCm38)	V172A	possibly damaging	Het
Olfr403	T	C	11: 74,196,163 (GRCm38)	V220A	probably damaging	Het
Olfr421-ps1	C	T	1: 174,152,121 (GRCm38)	H202Y	probably damaging	Het
Olfr490	C	A	7: 108,286,359 (GRCm38)	G256*	probably null	Het
Olfr745	G	A	14: 50,642,866 (GRCm38)	C195Y	possibly damaging	Het
Pcdhb13	C	T	18: 37,443,859 (GRCm38)	T430I	possibly damaging	Het
Piezo2	A	T	18: 63,074,662 (GRCm38)	L1426Q	probably null	Het
Pigk	T	A	3: 152,744,494 (GRCm38)	Y212N	probably damaging	Het
Pigm	T	G	1: 172,377,261 (GRCm38)	L188R	probably damaging	Het
Plce1	T	C	19: 38,777,924 (GRCm38)	F2117S	probably damaging	Het
Plec	A	G	15: 76,173,543 (GRCm38)	F4055L	probably damaging	Het
Plk5	C	T	10: 80,363,102 (GRCm38)	S435L	possibly damaging	Het
Pms1	G	A	1: 53,282,042 (GRCm38)	L11F	probably damaging	Het
Prl3b1	C	T	13: 27,247,912 (GRCm38)	T140I	possibly damaging	Het
Prl7a1	T	G	13: 27,633,672 (GRCm38)	D203A	probably damaging	Het
Psg17	A	G	7: 18,814,652 (GRCm38)	V398A	probably benign	Het
Pum1	T	A	4: 130,718,218 (GRCm38)	I166K	possibly damaging	Het
R3hdm1	T	A	1: 128,169,016 (GRCm38)	D108E	probably damaging	Het
Reln	A	T	5: 21,969,360 (GRCm38)	D1948E	possibly damaging	Het
Rnf112	C	T	11: 61,452,426 (GRCm38)	R141Q	probably damaging	Het
Rnf145	T	C	11: 44,561,466 (GRCm38)	V424A	possibly damaging	Het
Serpina3m	C	A	12: 104,389,699 (GRCm38)	Y208*	probably null	Het
Serpind1	T	C	16: 17,342,944 (GRCm38)	V446A	probably benign	Het
Shc3	T	A	13: 51,442,836 (GRCm38)	M384L	probably benign	Het
Slc38a11	A	G	2: 65,330,339 (GRCm38)	F304L	probably benign	Het
Slpi	C	T	2: 164,355,543 (GRCm38)	C28Y	probably damaging	Het
Specc1	C	A	11: 62,029,294 (GRCm38)	P7T	possibly damaging	Het
Spib	T	C	7: 44,528,857 (GRCm38)	E180G	probably benign	Het
Spint5	T	C	2: 164,716,983 (GRCm38)		probably benign	Het
Ssr2	T	A	3: 88,576,867 (GRCm38)		probably benign	Het
Tbrg1	T	C	9: 37,649,419 (GRCm38)	D387G	probably benign	Het
Tex14	T	G	11: 87,549,470 (GRCm38)	L1367R	probably damaging	Het
Tfpi	A	C	2: 84,458,016 (GRCm38)		probably benign	Het
Tlr5	T	A	1: 182,974,347 (GRCm38)	D405E	probably damaging	Het
Tnnt3	C	T	7: 142,511,525 (GRCm38)	R131C	possibly damaging	Het
Tnxb	T	C	17: 34,671,904 (GRCm38)	V407A	probably damaging	Het
Tnxb	A	G	17: 34,682,251 (GRCm38)	Y1013C	probably damaging	Het
Tpx2	T	A	2: 152,890,624 (GRCm38)	M606K	probably benign	Het
Trim30a	T	A	7: 104,430,230 (GRCm38)		probably benign	Het
Trim46	A	T	3: 89,237,701 (GRCm38)	Y489N	probably damaging	Het
Trpm6	A	T	19: 18,796,284 (GRCm38)	H380L	probably benign	Het
Tstd2	A	G	4: 46,120,563 (GRCm38)	I279T	probably benign	Het
Ttn	C	T	2: 76,946,391 (GRCm38)		probably null	Het
Txnl1	T	C	18: 63,679,514 (GRCm38)	T70A	probably benign	Het
Ush2a	C	T	1: 188,578,532 (GRCm38)		probably benign	Het
Usp1	A	G	4: 98,934,294 (GRCm38)	D615G	probably benign	Het
Virma	T	A	4: 11,519,242 (GRCm38)	C830S	probably benign	Het
Vmn1r7	A	T	6: 57,024,868 (GRCm38)	S136T	probably benign	Het
Vmn2r9	A	G	5: 108,846,439 (GRCm38)	V448A	probably damaging	Het
Vps11	G	A	9: 44,359,227 (GRCm38)	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,467,468 (GRCm38)	T476A	possibly damaging	Het
Wdr63	G	T	3: 146,063,480 (GRCm38)	T522K	possibly damaging	Het
Whamm	C	T	7: 81,591,771 (GRCm38)	R277*	probably null	Het
Wnt8a	A	G	18: 34,544,884 (GRCm38)	D115G	probably damaging	Het
Xndc1	T	A	7: 102,073,191 (GRCm38)	V21E	probably damaging	Het
Zc3hav1	C	A	6: 38,336,517 (GRCm38)	V198L	probably damaging	Het
Zfp874a	T	A	13: 67,442,504 (GRCm38)	I354F	probably benign	Het
Zfr2	A	T	10: 81,242,852 (GRCm38)	D306V	possibly damaging	Het

Other mutations in Blm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Blm	APN	7	80,474,071 (GRCm38)	missense	probably damaging	1.00
IGL01658:Blm	APN	7	80,463,941 (GRCm38)	missense	probably damaging	0.98
IGL02048:Blm	APN	7	80,502,961 (GRCm38)	splice site	probably benign
IGL02060:Blm	APN	7	80,514,580 (GRCm38)	splice site	probably benign
IGL02063:Blm	APN	7	80,509,419 (GRCm38)	nonsense	probably null
IGL02102:Blm	APN	7	80,469,756 (GRCm38)	missense	probably damaging	1.00
IGL02420:Blm	APN	7	80,496,006 (GRCm38)	missense	probably damaging	1.00
IGL02452:Blm	APN	7	80,503,377 (GRCm38)	splice site	probably null
IGL02566:Blm	APN	7	80,474,196 (GRCm38)	missense	probably damaging	1.00
IGL03387:Blm	APN	7	80,494,147 (GRCm38)	missense	probably damaging	1.00
FR4304:Blm	UTSW	7	80,512,919 (GRCm38)	small insertion	probably benign
FR4304:Blm	UTSW	7	80,463,773 (GRCm38)	frame shift	probably null
FR4340:Blm	UTSW	7	80,512,910 (GRCm38)	small insertion	probably benign
FR4340:Blm	UTSW	7	80,512,907 (GRCm38)	small insertion	probably benign
FR4340:Blm	UTSW	7	80,463,767 (GRCm38)	unclassified	probably benign
FR4449:Blm	UTSW	7	80,512,908 (GRCm38)	small insertion	probably benign
FR4548:Blm	UTSW	7	80,463,769 (GRCm38)	frame shift	probably null
FR4589:Blm	UTSW	7	80,463,770 (GRCm38)	frame shift	probably null
FR4737:Blm	UTSW	7	80,463,774 (GRCm38)	frame shift	probably null
FR4737:Blm	UTSW	7	80,463,771 (GRCm38)	frame shift	probably null
FR4976:Blm	UTSW	7	80,512,907 (GRCm38)	small insertion	probably benign
FR4976:Blm	UTSW	7	80,463,767 (GRCm38)	unclassified	probably benign
R0133:Blm	UTSW	7	80,502,367 (GRCm38)	missense	possibly damaging	0.93
R0194:Blm	UTSW	7	80,464,946 (GRCm38)	unclassified	probably benign
R0526:Blm	UTSW	7	80,505,893 (GRCm38)	nonsense	probably null
R0673:Blm	UTSW	7	80,499,751 (GRCm38)	critical splice donor site	probably null
R0972:Blm	UTSW	7	80,513,370 (GRCm38)	missense	probably benign
R0980:Blm	UTSW	7	80,499,958 (GRCm38)	splice site	probably null
R1120:Blm	UTSW	7	80,481,466 (GRCm38)	missense	probably damaging	1.00
R1301:Blm	UTSW	7	80,455,417 (GRCm38)	nonsense	probably null
R1769:Blm	UTSW	7	80,513,370 (GRCm38)	missense	probably benign
R1866:Blm	UTSW	7	80,494,114 (GRCm38)	missense	probably benign	0.08
R1874:Blm	UTSW	7	80,497,418 (GRCm38)	missense	probably damaging	1.00
R1966:Blm	UTSW	7	80,513,186 (GRCm38)	missense	possibly damaging	0.86
R2013:Blm	UTSW	7	80,502,399 (GRCm38)	missense	probably damaging	0.99
R2014:Blm	UTSW	7	80,502,399 (GRCm38)	missense	probably damaging	0.99
R2015:Blm	UTSW	7	80,502,399 (GRCm38)	missense	probably damaging	0.99
R2016:Blm	UTSW	7	80,505,926 (GRCm38)	missense	probably benign	0.26
R2103:Blm	UTSW	7	80,505,949 (GRCm38)	splice site	probably null
R2161:Blm	UTSW	7	80,481,370 (GRCm38)	splice site	probably null
R2215:Blm	UTSW	7	80,499,847 (GRCm38)	missense	possibly damaging	0.69
R3689:Blm	UTSW	7	80,513,079 (GRCm38)	missense	possibly damaging	0.56
R4049:Blm	UTSW	7	80,502,862 (GRCm38)	missense	probably benign	0.04
R4155:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R4695:Blm	UTSW	7	80,494,228 (GRCm38)	missense	probably damaging	1.00
R4774:Blm	UTSW	7	80,463,848 (GRCm38)	missense	probably damaging	1.00
R4833:Blm	UTSW	7	80,466,826 (GRCm38)	missense	probably benign
R4835:Blm	UTSW	7	80,509,546 (GRCm38)	missense	probably benign	0.41
R4994:Blm	UTSW	7	80,458,825 (GRCm38)	missense	probably benign	0.00
R5039:Blm	UTSW	7	80,505,873 (GRCm38)	missense	possibly damaging	0.50
R5330:Blm	UTSW	7	80,458,936 (GRCm38)	missense	possibly damaging	0.73
R5375:Blm	UTSW	7	80,513,229 (GRCm38)	missense	probably benign	0.00
R5408:Blm	UTSW	7	80,502,622 (GRCm38)	missense	probably benign	0.01
R5574:Blm	UTSW	7	80,499,773 (GRCm38)	missense	probably damaging	1.00
R5606:Blm	UTSW	7	80,460,832 (GRCm38)	splice site	probably null
R5702:Blm	UTSW	7	80,458,927 (GRCm38)	missense	probably benign	0.13
R5809:Blm	UTSW	7	80,464,844 (GRCm38)	missense	probably damaging	1.00
R6114:Blm	UTSW	7	80,513,487 (GRCm38)	missense	probably damaging	1.00
R6157:Blm	UTSW	7	80,512,985 (GRCm38)	missense	probably benign	0.18
R6163:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R6254:Blm	UTSW	7	80,480,342 (GRCm38)	missense	probably benign	0.04
R6266:Blm	UTSW	7	80,499,940 (GRCm38)	missense	probably benign	0.03
R6364:Blm	UTSW	7	80,494,526 (GRCm38)	nonsense	probably null
R6446:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R6502:Blm	UTSW	7	80,481,475 (GRCm38)	missense	probably damaging	0.98
R6700:Blm	UTSW	7	80,463,850 (GRCm38)	missense	possibly damaging	0.91
R7002:Blm	UTSW	7	80,469,753 (GRCm38)	missense	probably benign	0.00
R7105:Blm	UTSW	7	80,499,768 (GRCm38)	missense	probably benign	0.44
R7320:Blm	UTSW	7	80,455,354 (GRCm38)	nonsense	probably null
R7465:Blm	UTSW	7	80,513,115 (GRCm38)	missense	probably benign	0.02
R7561:Blm	UTSW	7	80,502,528 (GRCm38)	missense	probably damaging	0.99
R8500:Blm	UTSW	7	80,455,284 (GRCm38)	missense	probably damaging	1.00
R8543:Blm	UTSW	7	80,494,216 (GRCm38)	missense	probably damaging	0.98
R8774-TAIL:Blm	UTSW	7	80,512,907 (GRCm38)	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80,512,918 (GRCm38)	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80,512,919 (GRCm38)	small insertion	probably benign
R8775-TAIL:Blm	UTSW	7	80,512,931 (GRCm38)	small insertion	probably benign
R8860:Blm	UTSW	7	80,494,528 (GRCm38)	missense	probably benign	0.30
R8928:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R9089:Blm	UTSW	7	80,513,119 (GRCm38)	missense	probably damaging	1.00
R9363:Blm	UTSW	7	80,458,915 (GRCm38)	missense	probably damaging	1.00
RF001:Blm	UTSW	7	80,512,927 (GRCm38)	small insertion	probably benign
RF001:Blm	UTSW	7	80,512,906 (GRCm38)	small insertion	probably benign
RF001:Blm	UTSW	7	80,512,903 (GRCm38)	small insertion	probably benign
RF002:Blm	UTSW	7	80,512,927 (GRCm38)	small insertion	probably benign
RF002:Blm	UTSW	7	80,512,905 (GRCm38)	small insertion	probably benign
RF007:Blm	UTSW	7	80,512,933 (GRCm38)	nonsense	probably null
RF016:Blm	UTSW	7	80,512,926 (GRCm38)	nonsense	probably null
RF018:Blm	UTSW	7	80,512,926 (GRCm38)	nonsense	probably null
RF027:Blm	UTSW	7	80,512,914 (GRCm38)	frame shift	probably null
RF028:Blm	UTSW	7	80,512,905 (GRCm38)	nonsense	probably null
RF031:Blm	UTSW	7	80,512,923 (GRCm38)	small insertion	probably benign
RF031:Blm	UTSW	7	80,512,906 (GRCm38)	small insertion	probably benign
RF032:Blm	UTSW	7	80,512,930 (GRCm38)	small insertion	probably benign
RF036:Blm	UTSW	7	80,512,914 (GRCm38)	nonsense	probably null
RF044:Blm	UTSW	7	80,512,930 (GRCm38)	small insertion	probably benign
RF053:Blm	UTSW	7	80,512,921 (GRCm38)	small insertion	probably benign
RF064:Blm	UTSW	7	80,512,923 (GRCm38)	nonsense	probably null
X0061:Blm	UTSW	7	80,458,850 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GAGTTGAATGATCTAAACGTCACTG -3'
(R):5'- TCTCTTGGGACCAGAAGACG -3'

Sequencing Primer
(F):5'- AGACTTGAAAGATGCGTGTGTG -3'
(R):5'- CGAGAATGTAATCTCAGCGCTTG -3'

Posted On

2014-08-25